Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 162952 Orphanet classification of rare immunological diseases 98004 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98004 Rare immune disease Category 39812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39812 Graft versus host disease Disease 99920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99920 Acute graft versus host disease Clinical subtype 99921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99921 Chronic graft versus host disease Clinical subtype 95431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95431 Twin to twin transfusion syndrome Disease 101997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101997 Primary immunodeficiency Category 101988 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101988 Primary immunodeficiency due to a defect in innate immunity Category 101985 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101985 Quantitative and/or qualitative congenital phagocyte defect Category 101987 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101987 Congenital neutropenia Category 2686 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2686 Cyclic neutropenia Disease 42738 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42738 Severe congenital neutropenia Clinical group 486 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486 Autosomal dominant severe congenital neutropenia Disease 86788 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86788 X-linked severe congenital neutropenia Disease 439849 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439849 Autosomal recessive severe congenital neutropenia Category 99749 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99749 Kostmann syndrome Disease 331176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331176 Severe congenital neutropenia due to G6PC3 deficiency Disease 420699 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency Disease 420702 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Disease 423384 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423384 Severe congenital neutropenia due to JAGN1 deficiency Disease 331184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331184 Syndrome with congenital neutropenia as a major feature Category 445038 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome Disease 423384 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423384 Severe congenital neutropenia due to JAGN1 deficiency Disease 675767 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675767 Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency Disease 675628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome Disease 652522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome Disease 693647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693647 Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome Disease 193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193 Cohen syndrome Malformation syndrome 111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 Barth syndrome Disease 2390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2390 Lichtenstein syndrome Disease 2690 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2690 Neutropenia-monocytopenia-deafness syndrome Disease 79259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Clinical subtype 90023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90023 Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency Disease 183678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678 Hermansky-Pudlak syndrome due to AP-3 deficiency Clinical subtype 664500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency Clinical subtype 664511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency Clinical subtype 221046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221046 Poikiloderma with neutropenia Disease 369852 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome Disease 331176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331176 Severe congenital neutropenia due to G6PC3 deficiency Disease 811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 Shwachman-Diamond syndrome Disease 169142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169142 Recurrent infections due to specific granule deficiency Disease 183681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183681 Congenital functional phagocyte defect Category 674896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674896 Non-syndromic congenital phagocyte functional defect Category 228423 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228423 GATA2 deficiency spectrum Disease 264675 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264675 Hereditary pulmonary alveolar proteinosis Disease 379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379 Chronic granulomatous disease Disease 183707 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183707 Infantile LAD-like disease due to RAC2 deficiency Disease 2587 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2587 Myeloperoxidase deficiency Disease 619941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619941 Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency Disease 674648 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674648 Syndrome with congenital phagocyte functional defect as a major feature Category 2968 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2968 Leukocyte adhesion deficiency Disease 99842 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99842 Leukocyte adhesion deficiency type I Clinical subtype 99843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843 Leukocyte adhesion deficiency type II Clinical subtype 99844 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844 Leukocyte adhesion deficiency type III Clinical subtype 447740 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447740 Aggressive periodontitis Disease 674653 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674653 Actinomyopathy-associated syndromic thrombocytopenia Disease 678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 Papillon-Lefèvre syndrome Disease 101992 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101992 Immunodeficiency due to a complement cascade protein anomaly Category 459345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459345 Immunodeficiency due to a complement cascade component deficiency Category 169150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169150 Immunodeficiency due to a late component of complement deficiency Disease 331187 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331187 Immunodeficiency due to MASP-2 deficiency Disease 331190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331190 Immunodeficiency due to ficolin3 deficiency Disease 169147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169147 Immunodeficiency due to a classical component pathway complement deficiency Disease 280133 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280133 Complement component 3 deficiency Disease 459348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459348 Immunodeficiency due to a complement regulatory deficiency Category 2966 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2966 Properdin deficiency Disease 169467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169467 Recurrent Neisseria infections due to factor D deficiency Disease 200418 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200418 Immunodeficiency with factor I anomaly Disease 200421 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200421 Immunodeficiency with factor H anomaly Disease 169464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169464 Primary CD59 deficiency Disease 183710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183710 Genetic susceptibility to infections due to particular pathogens Category 51636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51636 WHIM syndrome Disease 302 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302 Inherited epidermodysplasia verruciformis Disease 324294 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324294 T-cell immunodeficiency with epidermodysplasia verruciformis Disease 1334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1334 Chronic mucocutaneous candidiasis Disease 1930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1930 Herpes simplex virus encephalitis Disease 748 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=748 Mendelian susceptibility to mycobacterial diseases Clinical group 319535 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Category 99898 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Disease 319547 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Disease 319552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Disease 319558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Disease 319563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Disease 699618 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699618 Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency Disease 477857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477857 Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Disease 699615 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699615 Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency Disease 319539 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Category 319569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Disease 319574 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Disease 331226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331226 Susceptibility to infection due to TYK2 deficiency Disease 574957 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574957 Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency Disease 319543 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Category 319581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Disease 319589 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Disease 319595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Disease 319600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Disease 319605 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319605 X-linked mendelian susceptibility to mycobacterial diseases Disease 70592 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70592 Transient predisposition to invasive pyogenic bacterial infection Disease 391311 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Disease 3452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3452 Whipple disease Disease 457088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457088 Predisposition to invasive fungal disease due to CARD9 deficiency Disease 391487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487 STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Disease 290839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290839 Autoinflammatory syndrome with immune deficiency Category 342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=342 Familial Mediterranean fever Disease 184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184 Cherubism Malformation syndrome 343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343 Hyperimmunoglobulinemia D with periodic fever Clinical subtype 32960 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32960 Tumor necrosis factor receptor 1 associated periodic syndrome Disease 77297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297 Majeed syndrome Disease 90340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340 Blau syndrome Disease 208650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208650 NLRP3-associated autoinflammatory disease Clinical group 575 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575 Muckle-Wells syndrome Disease 1451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451 CINCA syndrome Disease 47045 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47045 Familial cold urticaria Disease 647815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647815 Keratitis fugax hereditaria Disease 210115 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115 Sterile multifocal osteomyelitis with periostitis and pustulosis Disease 294023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome Disease 300359 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359 PLCG2-associated antibody deficiency and immune dysregulation Disease 404546 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404546 DITRA Disease 85453 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453 X-linked reticulate pigmentary disorder Disease 619953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619953 Familial hyperinflammatory lymphoproliferative immunodeficiency Disease 572428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia Disease 619367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619367 SAMD9L-associated autoinflammatory syndrome Disease 566067 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome Disease 674762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency Disease 695807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695807 Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome Disease 652522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome Disease 331193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331193 Other immunodeficiency syndromes due to defects in innate immunity Category 568056 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome Disease 101351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351 Familial isolated congenital asplenia Morphological anomaly 431156 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431156 Primary immunodeficiency with predisposition to severe viral infection Category 431166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Disease 437552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Disease 574918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574918 Predisposition to severe viral infection due to IRF7 deficiency Disease 179006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179006 Primary immunodeficiency due to a defect in adaptive immunity Category 83471 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83471 T-cell immunodeficiency with thymic aplasia Disease 101972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101972 Combined T and B cell immunodeficiency Clinical group 183660 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183660 Severe combined immunodeficiency Clinical group 317416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317416 T-B+ severe combined immunodeficiency Clinical group 504523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504523 Severe combined immunodeficiency due to LAT deficiency Disease 276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276 T-B+ severe combined immunodeficiency due to gamma chain deficiency Disease 35078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency Disease 137631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Disease 169154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Disease 169157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169157 T-B+ severe combined immunodeficiency due to CD45 deficiency Disease 169160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta Disease 228003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228003 Severe combined immunodeficiency due to CORO1A deficiency Disease 169095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169095 Severe combined immunodeficiency due to FOXN1 deficiency Disease 317419 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317419 T-B- severe combined immunodeficiency Clinical group 275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275 Severe combined immunodeficiency due to DCLRE1C deficiency Disease 935 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=935 Short-limb skeletal dysplasia with severe combined immunodeficiency Disease 277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277 Severe combined immunodeficiency due to adenosine deaminase deficiency Disease 33355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33355 Reticular dysgenesis Disease 280142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280142 Combined immunodeficiency due to LCK deficiency Disease 317425 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317425 Severe combined immunodeficiency due to DNA-PKcs deficiency Disease 331206 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency Disease 688543 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688543 Reticular dysgenesis-like severe combined immunodeficiency Disease 397802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397802 T+ B+ severe combined immunodeficiency Clinical group 420573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420573 Severe combined immunodeficiency due to CTPS1 deficiency Disease 480549 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480549 Non-severe combined immunodeficiency Clinical group 324294 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324294 T-cell immunodeficiency with epidermodysplasia verruciformis Disease 760 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760 Purine nucleoside phosphorylase deficiency Disease 572 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572 Immunodeficiency by defective expression of MHC class II Disease 911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=911 Combined immunodeficiency due to ZAP70 deficiency Disease 34592 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34592 Immunodeficiency by defective expression of MHC class I Disease 99812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812 LIG4 syndrome Disease 157949 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157949 Combined immunodeficiency with granulomatosis Disease 169079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079 Cernunnos-XLF deficiency Disease 169082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169082 Combined immunodeficiency due to CD3gamma deficiency Disease 169085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation Disease 228000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228000 Idiopathic CD4 lymphocytopenia Biological anomaly 231154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231154 Combined immunodeficiency due to partial RAG1 deficiency Disease 317476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317476 XMEN Disease 397959 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397959 TCR-alpha-beta-positive T-cell deficiency Disease 464336 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464336 BENTA disease Disease 238505 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238505 Combined immunodeficiency due to CD27 deficiency Disease 431149 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431149 Combined immunodeficiency due to OX40 deficiency Disease 653751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653751 X-linked combined immunodeficiency due to SASH3 deficiency Disease 676039 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676039 Combined immunodeficiency due to FOXN1 haploinsufficiency Disease 647804 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647804 Combined immunodeficiency due to FCHO1 deficiency Disease 688571 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688571 Combined immunodeficiency with low immunoglobulins and normal B cells Clinical group 695191 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695191 Late-onset combined immunodeficiency due to ICOSL deficiency Disease 697403 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697403 Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency Disease 697394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697394 Combined immunodeficiency due to c-REL deficiency Disease 699578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699578 Combined immunodeficiency with low Ig due to BCL10 deficiency Disease 697414 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697414 Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation Disease 697389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697389 Combined immunodeficiency due to HELIOS deficiency Disease 697385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697385 Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency Disease 699593 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699593 Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency Clinical subtype 699596 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699596 Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency Clinical subtype 695183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695183 Late-onset combined immunodeficiency due to ICOS deficiency Disease 692812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692812 RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome Disease 397787 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397787 Combined immunodeficiency due to IKBKB deficiency Disease 183663 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183663 Hyper-IgM syndrome with susceptibility to opportunistic infections Disease 101088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101088 X-linked hyper-IgM syndrome Clinical subtype 101090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101090 Hyper-IgM syndrome type 3 Clinical subtype 447737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447737 Combined immunodeficiency due to DOCK2 deficiency Disease 357237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357237 Combined immunodeficiency due to CARD11 deficiency Disease 476113 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113 Combined immunodeficiency due to TFRC deficiency Disease 357329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357329 Combined immunodeficiency due to IL21R deficiency Disease 688563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688563 Combined immunodeficiency with normal Ig and poor specific antibody response Clinical group 397964 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964 Combined immunodeficiency due to MALT1 deficiency Disease 688594 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688594 Combined immunodeficiency due to RELB deficiency Disease 695164 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695164 Combined immunodeficiency with low B cells and hypogammaglobulinemia Category 700205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700205 Combined immunodeficiency due to IKBKB gain-of-function mutation Disease 217390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217390 Combined immunodeficiency due to DOCK8 deficiency Disease 695172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695172 Combined immunodeficiency due to dimerization defective IKAROS mutation Disease 477661 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661 IL21-related infantile inflammatory bowel disease Disease 447731 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447731 NIK deficiency Disease 314689 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314689 Combined immunodeficiency due to STK4 deficiency Disease 39041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39041 Omenn syndrome Disease 504530 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504530 Combined immunodeficiency due to Moesin deficiency Disease 538958 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538958 EBV-induced lymphoproliferative disease due to CD70 deficiency Disease 542301 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542301 EBV-induced lymphoproliferative disease due to CARMIL2 deficiency Disease 538963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538963 Combined immunodeficiency due to ITK deficiency Disease 445018 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018 Syndromic autoimmune enteropathy due to LRBA deficiency Disease 596759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596759 Combined immunodeficiency due to RELA haploinsufficiency Disease 101977 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101977 Immunodeficiency predominantly affecting antibody production Category 1006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1006 Alopecia antibody deficiency Disease 3132 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3132 Say-Barber-Miller syndrome Malformation syndrome 178389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389 Osteopetrosis-hypogammaglobulinemia syndrome Disease 169443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Category 70593 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency Disease 183669 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183669 Agammaglobulinemia Category 229717 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229717 Non-syndromic agammaglobulinemia Disease 47 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47 X-linked agammaglobulinemia Clinical subtype 33110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33110 Autosomal non-syndromic agammaglobulinemia Clinical subtype 229720 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229720 Syndromic agammaglobulinemia Category 632 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Clinical subtype 83617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Malformation syndrome 567502 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome Disease 693647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693647 Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome Disease 693627 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693627 Agammaglobulinemia-skin involvement-failure to thrive syndrome Disease 331232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Category 169139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169139 Transient hypogammaglobulinemia of infancy Disease 2571 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2571 X-linked immunoneurologic disorder Disease 169110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169110 Immunoglobulin heavy chain deficiency Disease 183675 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency Disease 331235 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331235 Selective IgM deficiency Disease 331240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Category 183666 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183666 Hyper-IgM syndrome without susceptibility to opportunistic infections Disease 101089 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101089 Hyper-IgM syndrome type 2 Clinical subtype 101091 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101091 Hyper-IgM syndrome type 4 Clinical subtype 101092 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101092 Hyper-IgM syndrome type 5 Clinical subtype 252202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252202 Constitutional mismatch repair deficiency syndrome Disease 696851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696851 Common variable immunodeficiency and related disorders Category 231205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231205 Common variable immunodeficiency without known genetic defect Disease 696857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696857 Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations Disease 696863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696863 Common variable immunodeficiency phenotype due to somatic mutations Disease 696870 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696870 Common variable immunodeficiency phenotype due to germinal monogenic mutation Category 696894 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696894 Common variable immunodeficiency phenotype due to CD21 deficiency Disease 293978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome Disease 397596 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397596 Activated PI3K-delta syndrome Clinical group 693661 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693661 Activated PI3K-delta syndrome 1 Disease 693681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693681 Activated PI3K-delta syndrome 2 Disease 369861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Disease 317473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317473 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency Disease 696931 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696931 Common variable immunodeficiency phenotype due to TWEAK deficiency Disease 696942 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696942 Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency Disease 696945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696945 X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency Disease 697417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697417 Common variable immunodeficiency phenotype due to SEC61A1 deficiency Disease 696874 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696874 NFKB1-related immune dysregulation Disease 696907 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696907 Common variable immunodeficiency phenotype due to homozygous TACI deficiency Disease 696925 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696925 Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency Disease 79330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 MOGS-CDG Disease 3240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Disease 696904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696904 Common variable immunodeficiency phenotype due to IRF2BP2 deficiency Disease 696881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696881 Common variable immunodeficiency phenotype due to CD19/CD81 deficiency Disease 169361 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169361 Immune dysregulation disease with immunodeficiency Category 695807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695807 Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome Disease 158038 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158038 Primary hemophagocytic lymphohistiocytosis Clinical group 331249 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331249 Primary hemophagocytic lymphohistiocytosis with hypopigmentation Category 167 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 Chédiak-Higashi syndrome Disease 79477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477 Griscelli syndrome type 2 Clinical subtype 183678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678 Hermansky-Pudlak syndrome due to AP-3 deficiency Clinical subtype 664500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency Clinical subtype 664511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency Clinical subtype 664482 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664482 Primary hemophagocytic lymphohistiocytosis without hypopigmentation Category 540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540 Familial hemophagocytic lymphohistiocytosis Disease 470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470 Lysinuric protein intolerance Disease 619363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619363 NOCARH syndrome Disease 169355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169355 Immunodeficiency syndrome with autoimmunity Category 3453 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 Autoimmune polyendocrinopathy type 1 Disease 3261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261 Autoimmune lymphoproliferative syndrome Disease 37042 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Disease 169100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100 Immunodeficiency due to CD25 deficiency Disease 228426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 Syndromic multisystem autoimmune disease due to Itch deficiency Disease 268114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114 RAS-associated autoimmune leukoproliferative disease Disease 275517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency Disease 306550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306550 FADD-related immunodeficiency Disease 391487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487 STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Disease 444463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency Disease 619948 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency Disease 688594 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688594 Combined immunodeficiency due to RELB deficiency Disease 658946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658946 Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency Disease 699590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699590 Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency Disease 275523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275523 Dianzani autoimmune lymphoproliferative disease Disease 436159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency Disease 438159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 STAT3-related early-onset multisystem autoimmune disease Disease 658951 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658951 Early-onset immune dysregulation due to DOCK11 complete deficiency Disease 664456 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664456 Immune dysregulation disease with immunodeficiency associated with EBV susceptibility Clinical group 420573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420573 Severe combined immunodeficiency due to CTPS1 deficiency Disease 542301 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542301 EBV-induced lymphoproliferative disease due to CARMIL2 deficiency Disease 317476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317476 XMEN Disease 664711 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency Disease 538963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538963 Combined immunodeficiency due to ITK deficiency Disease 664699 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664699 EBV-induced lymphoproliferative disease due to RASGRP1 deficiency Disease 538958 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538958 EBV-induced lymphoproliferative disease due to CD70 deficiency Disease 664726 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664726 EBV-induced lymphoproliferative disease due to CD137 deficiency Disease 664729 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664729 EBV-induced lymphoproliferative disease due to TET2 deficiency Disease 664734 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664734 EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature Clinical group 238505 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238505 Combined immunodeficiency due to CD27 deficiency Disease 2442 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2442 X-linked lymphoproliferative disease Clinical group 538931 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538931 X-linked lymphoproliferative disease due to SAP deficiency Disease 538934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538934 X-linked lymphoproliferative disease due to XIAP deficiency Disease 529977 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome Disease 565788 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565788 Infantile inflammatory bowel disease with neurological involvement Disease 238569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Disease 676125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676125 X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency Disease 529980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529980 Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome Disease 331217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331217 Syndrome with combined immunodeficiency Category 906 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906 Wiskott-Aldrich syndrome Disease 1775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 Dyskeratosis congenita Disease 1493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 Vici syndrome Malformation syndrome 859 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859 Transcobalamin deficiency Disease 2136 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136 Hennekam syndrome Malformation syndrome 2951 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2951 Absent thumb-short stature-immunodeficiency syndrome Malformation syndrome 3322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 Hoyeraal-Hreidarsson syndrome Disease 69088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Disease 79124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79124 Hepatic veno-occlusive disease-immunodeficiency syndrome Disease 90045 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 Hereditary folate malabsorption Disease 98813 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813 Hypohidrotic ectodermal dysplasia with immunodeficiency Disease 169090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169090 Combined immunodeficiency due to CRAC channel dysfunction Disease 317428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317428 Combined immunodeficiency due to ORAI1 deficiency Clinical subtype 317430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317430 Combined immunodeficiency due to STIM1 deficiency Clinical subtype 477814 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Malformation syndrome 169346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies Category 505227 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505227 Combined immunodeficiency due to GINS1 deficiency Disease 100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 Ataxia-telangiectasia Disease 125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125 Bloom syndrome Disease 2268 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2268 ICF syndrome Malformation syndrome 647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647 Nijmegen breakage syndrome Malformation syndrome 240760 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760 Nijmegen breakage syndrome-like disorder Malformation syndrome 420741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741 RIDDLE syndrome Malformation syndrome 75391 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Disease 169349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169349 Immuno-osseous dysplasia Clinical group 221139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 Combined immunodeficiency with facio-oculo-skeletal anomalies Disease 1830 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830 Schimke immuno-osseous dysplasia Disease 175 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175 Cartilage-hair hypoplasia Disease 508533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome Disease 508542 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome Disease 353298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298 Roifman syndrome Disease 220465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465 Laron syndrome with immunodeficiency Disease 329173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Disease 331220 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331220 Syndome with combined immunodeficiency due to thymic defect Category 169095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169095 Severe combined immunodeficiency due to FOXN1 deficiency Disease 687695 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687695 10p13-p14 deletion syndrome Malformation syndrome 685017 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685017 Combined immunodeficiency due to TBX1 deficiency Disease 138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 CHARGE syndrome Malformation syndrome 567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 22q11.2 deletion syndrome Malformation syndrome 2308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 Jacobsen syndrome Malformation syndrome 331223 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331223 Hyper-IgE syndrome Clinical group 2314 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Disease 634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634 Netherton syndrome Disease 443811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443811 PGM3-CDG Disease 641368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency Disease 656912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656912 Autosomal dominant combined immunodeficiency due to ERBIN deficiency Disease 656313 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency Disease 656300 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency Disease 656283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency Disease 656326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency Disease 662829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome Disease 619972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619972 CADINS disease Disease 352712 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Disease 436252 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436252 Combined immunodeficiency-multiple intestinal atresia Disease 661412 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency Disease 699599 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699599 ICHAD syndrome Disease 619979 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome Disease 158032 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158032 Hemophagocytic syndrome Category 158038 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158038 Primary hemophagocytic lymphohistiocytosis Clinical group 331249 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331249 Primary hemophagocytic lymphohistiocytosis with hypopigmentation Category 167 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 Chédiak-Higashi syndrome Disease 79477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477 Griscelli syndrome type 2 Clinical subtype 183678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678 Hermansky-Pudlak syndrome due to AP-3 deficiency Clinical subtype 664500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency Clinical subtype 664511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency Clinical subtype 664482 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664482 Primary hemophagocytic lymphohistiocytosis without hypopigmentation Category 540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540 Familial hemophagocytic lymphohistiocytosis Disease 470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470 Lysinuric protein intolerance Disease 619363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619363 NOCARH syndrome Disease 158041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158041 Secondary hemophagocytic lymphohistiocytosis Category 158048 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158048 Hemophagocytic syndrome associated with an infection Particular clinical situation in a disease or syndrome 158057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease Particular clinical situation in a disease or syndrome 158061 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158061 Macrophage activation syndrome Clinical syndrome 279943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279943 Hereditary neutrophilia Disease 310050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=310050 Acquired immunodeficiency Category 90081 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90081 AIDS wasting syndrome Particular clinical situation in a disease or syndrome 169105 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169105 Thymoma-hypogammaglobulinemia syndrome Disease 178996 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178996 Acquired neutropenia Category 464370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464370 Neonatal alloimmune neutropenia Disease 2688 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2688 Adult idiopathic neutropenia Disease 47612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47612 Felty syndrome Disease 86872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86872 T-cell large granular lymphocyte leukemia Disease 306431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies Disease