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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
Constitutional 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
Autosomal recessive 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
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Disease
331184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331184
Constitutional neutropenia with extra-hematopoietic manifestations
Category
699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699
Pearson 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
51636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51636
WHIM 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
79477
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477
Griscelli syndrome type 2
Clinical subtype
90023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90023
Primary immunodeficiency syndrome due to 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
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
183681
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183681
Functional neutrophil defect
Category
379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379
Chronic granulomatous disease
Disease
2587
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2587
Myeloperoxidase deficiency
Disease
678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678
Papillon-Lefèvre syndrome
Disease
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
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 infection due to specific granule deficiency
Disease
183707
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183707
Neutrophil immunodeficiency syndrome
Disease
447740
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447740
Susceptibility to localized juvenile periodontitis
Disease
619941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619941
Immune deficiency due to impaired neutrophil phagocytosis and migration
Disease
167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167
Chédiak-Higashi syndrome
Disease
228423
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228423
Monocytopenia with susceptibility to infections
Disease
264675
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264675
Hereditary pulmonary alveolar proteinosis
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
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
477857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477857
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor 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
Autosomal recessive 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
319612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319612
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Etiological subtype
319623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319623
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Etiological subtype
70592
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70592
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Disease
183713
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183713
Bacterial susceptibility due to TLR signaling pathway deficiency
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
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
Keratoendotheliitis 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 inflammatory skin and bowel disease
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
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
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
302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302
Epidermodysplasia verruciformis
Disease
51636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51636
WHIM syndrome
Disease
101351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351
Familial isolated congenital asplenia
Morphological anomaly
324294
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324294
T-cell immunodeficiency with epidermodysplasia verruciformis
Disease
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
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
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
Severe 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
397802
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397802
T+ B+ severe combined immunodeficiency
Clinical group
357237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357237
Combined immunodeficiency due to CARD11 deficiency
Disease
397787
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397787
Severe combined immunodeficiency due to IKK2 deficiency
Disease
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
Category
447731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447731
NIK deficiency
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
39041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39041
Omenn syndrome
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
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
217390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217390
Combined immunodeficiency due to DOCK8 deficiency
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
314689
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314689
Combined immunodeficiency due to STK4 deficiency
Disease
317476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317476
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Disease
357329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357329
Combined immunodeficiency due to IL21R deficiency
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
476113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113
Combined immunodeficiency due to TFRC deficiency
Disease
477661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661
IL21-related infantile inflammatory bowel disease
Disease
447737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447737
Combined immunodeficiency due to DOCK2 deficiency
Disease
397964
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964
Combined immunodeficiency due to MALT1 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
647804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647804
Combined immunodeficiency due to FCHO1 deficiency
Disease
504530
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504530
Combined immunodeficiency due to Moesin 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
Combined immunodeficiency 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
1572
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1572
Common variable immunodeficiency
Disease
169139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169139
Transient hypogammaglobulinemia of infancy
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
Isolated 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 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
397596
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397596
Activated PI3K-delta 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
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
331244
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331244
Other immunodeficiency syndrome with predominantly antibody defects
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
293978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293978
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
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
169361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169361
Immune dysregulation disease with immunodeficiency
Category
158038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158038
Primary hemophagocytic lymphohistiocytosis
Clinical group
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 SH2D1A 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
540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540
Familial hemophagocytic lymphohistiocytosis
Disease
331249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331249
Immunodeficiency syndrome 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
169355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169355
Immunodeficiency syndrome with autoimmunity
Category
1855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855
Spondyloenchondrodysplasia
Malformation syndrome
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 with recurrent viral infections
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
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
Disease
619948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619948
Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome
Disease
658946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658946
Early-onset autoimmune disorder due to DOCK11 partial deficiency
Disease
238510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238510
Lymphoproliferative syndrome
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 SH2D1A 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
3261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261
Autoimmune lymphoproliferative syndrome
Disease
275517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275517
Autoimmune lymphoproliferative syndrome with recurrent viral infections
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
268114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114
RAS-associated autoimmune leukoproliferative disease
Disease
538958
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538958
Combined immunodeficiency due to CD70 deficiency
Disease
542301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542301
Combined immunodeficiency due to CARMIL2 deficiency
Disease
619953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619953
Familial hyperinflammatory lymphoproliferative immunodeficiency
Disease
619948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619948
Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome
Disease
538963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538963
Combined immunodeficiency due to ITK deficiency
Disease
529974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529974
Immune dysregulation with inflammatory bowel disease
Clinical group
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
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
529980
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529980
Inflammatory bowel disease-recurrent sinopulmonary infections 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
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
51
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51
Aicardi-Goutières syndrome
Disease
425120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120
STING-associated vasculopathy with onset in infancy
Disease
85191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191
Singleton-Merten dysplasia
Malformation syndrome
84064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064
Syndromic diarrhea
Disease
85453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453
X-linked reticulate pigmentary disorder
Disease
404553
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404553
Vasculitis due to ADA2 deficiency
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
2300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2300
Multiple intestinal atresia
Morphological anomaly
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
Anhidrotic 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
169095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169095
Severe combined immunodeficiency due to FOXN1 deficiency
Disease
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
317473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317473
Pancytopenia due to IKZF1 mutations
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
Immunodeficiency due to absence of thymus
Category
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
83471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83471
T-cell immunodeficiency with thymic aplasia
Disease
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
369992
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369992
Severe dermatitis-multiple allergies-metabolic wasting 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
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-enteropathy spectrum
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
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 SH2D1A 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
540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540
Familial hemophagocytic lymphohistiocytosis
Disease
331249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331249
Immunodeficiency syndrome 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
158041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158041
Secondary hemophagocytic lymphohistiocytosis
Category
619363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619363
Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18
Disease
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
Good 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