Orphanet classification: Rare immune disease (ORPHA:98004)
Disorder type: Category
Subcategories and diseases:
Name: Graft versus host disease
OrphaCode: 39812
DisorderType: Disease
Children: Name: Acute graft versus host disease
OrphaCode: 99920
DisorderType: Clinical subtype
Name: Chronic graft versus host disease
OrphaCode: 99921
DisorderType: Clinical subtype
Name: Twin to twin transfusion syndrome
OrphaCode: 95431
DisorderType: Disease
Name: Primary immunodeficiency
OrphaCode: 101997
DisorderType: Category
Children: Name: Primary immunodeficiency due to a defect in innate immunity
OrphaCode: 101988
DisorderType: Category
Children: Name: Quantitative and/or qualitative congenital phagocyte defect
OrphaCode: 101985
DisorderType: Category
Children: Name: Congenital neutropenia
OrphaCode: 101987
DisorderType: Category
Children: Name: Cyclic neutropenia
OrphaCode: 2686
DisorderType: Disease
Name: Severe congenital neutropenia
OrphaCode: 42738
DisorderType: Clinical group
Children: Name: Autosomal dominant severe congenital neutropenia
OrphaCode: 486
DisorderType: Disease
Name: X-linked severe congenital neutropenia
OrphaCode: 86788
DisorderType: Disease
Name: Autosomal recessive severe congenital neutropenia
OrphaCode: 439849
DisorderType: Category
Children: Name: Kostmann syndrome
OrphaCode: 99749
DisorderType: Disease
Name: Severe congenital neutropenia due to G6PC3 deficiency
OrphaCode: 331176
DisorderType: Disease
Name: Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
OrphaCode: 420699
DisorderType: Disease
Name: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
OrphaCode: 420702
DisorderType: Disease
Name: Severe congenital neutropenia due to JAGN1 deficiency
OrphaCode: 423384
DisorderType: Disease
Name: Syndrome with congenital neutropenia as a major feature
OrphaCode: 331184
DisorderType: Category
Children: Name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
OrphaCode: 445038
DisorderType: Disease
Name: Severe congenital neutropenia due to JAGN1 deficiency
OrphaCode: 423384
DisorderType: Disease
Name: Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency
OrphaCode: 675767
DisorderType: Disease
Name: TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
OrphaCode: 675628
DisorderType: Disease
Name: Cohen syndrome
OrphaCode: 193
DisorderType: Malformation syndrome
Name: Barth syndrome
OrphaCode: 111
DisorderType: Disease
Name: Lichtenstein syndrome
OrphaCode: 2390
DisorderType: Disease
Name: Neutropenia-monocytopenia-deafness syndrome
OrphaCode: 2690
DisorderType: Disease
Name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
OrphaCode: 79259
DisorderType: Clinical subtype
Name: Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
OrphaCode: 90023
DisorderType: Disease
Name: Hermansky-Pudlak syndrome due to AP-3 deficiency
OrphaCode: 183678
DisorderType: Clinical subtype
Children: Name: Hermansky-Pudlak syndrome due to AP3B1 deficiency
OrphaCode: 664500
DisorderType: Clinical subtype
Name: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
OrphaCode: 664511
DisorderType: Clinical subtype
Name: Poikiloderma with neutropenia
OrphaCode: 221046
DisorderType: Disease
Name: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
OrphaCode: 369852
DisorderType: Disease
Name: Severe congenital neutropenia due to G6PC3 deficiency
OrphaCode: 331176
DisorderType: Disease
Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: Recurrent infections due to specific granule deficiency
OrphaCode: 169142
DisorderType: Disease
Name: Congenital functional phagocyte defect
OrphaCode: 183681
DisorderType: Category
Children: Name: Non-syndromic congenital phagocyte functional defect
OrphaCode: 674896
DisorderType: Category
Children: Name: GATA2 deficiency spectrum
OrphaCode: 228423
DisorderType: Disease
Name: Hereditary pulmonary alveolar proteinosis
OrphaCode: 264675
DisorderType: Disease
Name: Chronic granulomatous disease
OrphaCode: 379
DisorderType: Disease
Name: Infantile LAD-like disease due to RAC2 deficiency
OrphaCode: 183707
DisorderType: Disease
Name: Myeloperoxidase deficiency
OrphaCode: 2587
DisorderType: Disease
Name: Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
OrphaCode: 619941
DisorderType: Disease
Name: Syndrome with congenital phagocyte functional defect as a major feature
OrphaCode: 674648
DisorderType: Category
Children: Name: Leukocyte adhesion deficiency
OrphaCode: 2968
DisorderType: Disease
Children: Name: Leukocyte adhesion deficiency type I
OrphaCode: 99842
DisorderType: Clinical subtype
Name: Leukocyte adhesion deficiency type II
OrphaCode: 99843
DisorderType: Clinical subtype
Name: Leukocyte adhesion deficiency type III
OrphaCode: 99844
DisorderType: Clinical subtype
Name: Susceptibility to localized juvenile periodontitis
OrphaCode: 447740
DisorderType: Disease
Name: Actinomyopathy-associated syndromic thrombocytopenia
OrphaCode: 674653
DisorderType: Disease
Name: Papillon-Lefèvre syndrome
OrphaCode: 678
DisorderType: Disease
Name: Immunodeficiency due to a complement cascade protein anomaly
OrphaCode: 101992
DisorderType: Category
Children: Name: Immunodeficiency due to a complement cascade component deficiency
OrphaCode: 459345
DisorderType: Category
Children: Name: Immunodeficiency due to a late component of complement deficiency
OrphaCode: 169150
DisorderType: Disease
Name: Immunodeficiency due to MASP-2 deficiency
OrphaCode: 331187
DisorderType: Disease
Name: Immunodeficiency due to ficolin3 deficiency
OrphaCode: 331190
DisorderType: Disease
Name: Immunodeficiency due to a classical component pathway complement deficiency
OrphaCode: 169147
DisorderType: Disease
Name: Complement component 3 deficiency
OrphaCode: 280133
DisorderType: Disease
Name: Immunodeficiency due to a complement regulatory deficiency
OrphaCode: 459348
DisorderType: Category
Children: Name: Properdin deficiency
OrphaCode: 2966
DisorderType: Disease
Name: Recurrent Neisseria infections due to factor D deficiency
OrphaCode: 169467
DisorderType: Disease
Name: Immunodeficiency with factor I anomaly
OrphaCode: 200418
DisorderType: Disease
Name: Immunodeficiency with factor H anomaly
OrphaCode: 200421
DisorderType: Disease
Name: Primary CD59 deficiency
OrphaCode: 169464
DisorderType: Disease
Name: Genetic susceptibility to infections due to particular pathogens
OrphaCode: 183710
DisorderType: Category
Children: Name: WHIM syndrome
OrphaCode: 51636
DisorderType: Disease
Name: Inherited epidermodysplasia verruciformis
OrphaCode: 302
DisorderType: Disease
Name: T-cell immunodeficiency with epidermodysplasia verruciformis
OrphaCode: 324294
DisorderType: Disease
Name: Chronic mucocutaneous candidiasis
OrphaCode: 1334
DisorderType: Disease
Name: Herpes simplex virus encephalitis
OrphaCode: 1930
DisorderType: Disease
Name: Mendelian susceptibility to mycobacterial diseases
OrphaCode: 748
DisorderType: Clinical group
Children: Name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
OrphaCode: 319535
DisorderType: Category
Children: Name: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
OrphaCode: 99898
DisorderType: Disease
Name: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
OrphaCode: 319547
DisorderType: Disease
Name: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
OrphaCode: 319552
DisorderType: Disease
Name: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
OrphaCode: 319558
DisorderType: Disease
Name: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
OrphaCode: 319563
DisorderType: Disease
Name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
OrphaCode: 477857
DisorderType: Disease
Name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
OrphaCode: 319539
DisorderType: Category
Children: Name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
OrphaCode: 319569
DisorderType: Disease
Name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
OrphaCode: 319574
DisorderType: Disease
Name: Susceptibility to infection due to TYK2 deficiency
OrphaCode: 331226
DisorderType: Disease
Name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
OrphaCode: 574957
DisorderType: Disease
Name: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
OrphaCode: 319543
DisorderType: Category
Children: Name: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
OrphaCode: 319581
DisorderType: Disease
Name: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
OrphaCode: 319589
DisorderType: Disease
Name: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
OrphaCode: 319595
DisorderType: Disease
Name: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
OrphaCode: 319600
DisorderType: Disease
Name: X-linked mendelian susceptibility to mycobacterial diseases
OrphaCode: 319605
DisorderType: Disease
Children: Name: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
OrphaCode: 319612
DisorderType: Etiological subtype
Name: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
OrphaCode: 319623
DisorderType: Etiological subtype
Name: Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
OrphaCode: 70592
DisorderType: Disease
Name: Bacterial susceptibility due to TLR signaling pathway deficiency
OrphaCode: 183713
DisorderType: Disease
Name: Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
OrphaCode: 391311
DisorderType: Disease
Name: Whipple disease
OrphaCode: 3452
DisorderType: Disease
Name: Predisposition to invasive fungal disease due to CARD9 deficiency
OrphaCode: 457088
DisorderType: Disease
Name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
OrphaCode: 391487
DisorderType: Disease
Name: Autoinflammatory syndrome with immune deficiency
OrphaCode: 290839
DisorderType: Category
Children: Name: Familial Mediterranean fever
OrphaCode: 342
DisorderType: Disease
Name: Cherubism
OrphaCode: 184
DisorderType: Malformation syndrome
Name: Hyperimmunoglobulinemia D with periodic fever
OrphaCode: 343
DisorderType: Clinical subtype
Name: Tumor necrosis factor receptor 1 associated periodic syndrome
OrphaCode: 32960
DisorderType: Disease
Name: Majeed syndrome
OrphaCode: 77297
DisorderType: Disease
Name: Blau syndrome
OrphaCode: 90340
DisorderType: Disease
Name: NLRP3-associated autoinflammatory disease
OrphaCode: 208650
DisorderType: Clinical group
Children: Name: Muckle-Wells syndrome
OrphaCode: 575
DisorderType: Disease
Name: CINCA syndrome
OrphaCode: 1451
DisorderType: Disease
Name: Familial cold urticaria
OrphaCode: 47045
DisorderType: Disease
Name: Keratitis fugax hereditaria
OrphaCode: 647815
DisorderType: Disease
Name: Sterile multifocal osteomyelitis with periostitis and pustulosis
OrphaCode: 210115
DisorderType: Disease
Name: Neonatal inflammatory skin and bowel disease
OrphaCode: 294023
DisorderType: Disease
Name: PLCG2-associated antibody deficiency and immune dysregulation
OrphaCode: 300359
DisorderType: Disease
Name: DITRA
OrphaCode: 404546
DisorderType: Disease
Name: X-linked reticulate pigmentary disorder
OrphaCode: 85453
DisorderType: Disease
Name: Familial hyperinflammatory lymphoproliferative immunodeficiency
OrphaCode: 619953
DisorderType: Disease
Name: Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
OrphaCode: 572428
DisorderType: Disease
Name: SAMD9L-associated autoinflammatory syndrome
OrphaCode: 619367
DisorderType: Disease
Name: CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
OrphaCode: 566067
DisorderType: Disease
Name: Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
OrphaCode: 674762
DisorderType: Disease
Name: Periodic fever-immunodeficiency-thrombocytopenia syndrome
OrphaCode: 652522
DisorderType: Disease
Name: Other immunodeficiency syndromes due to defects in innate immunity
OrphaCode: 331193
DisorderType: Category
Children: Name: Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
OrphaCode: 568056
DisorderType: Disease
Name: Familial isolated congenital asplenia
OrphaCode: 101351
DisorderType: Morphological anomaly
Name: Primary immunodeficiency with predisposition to severe viral infection
OrphaCode: 431156
DisorderType: Category
Children: Name: Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
OrphaCode: 431166
DisorderType: Disease
Name: Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
OrphaCode: 437552
DisorderType: Disease
Name: Predisposition to severe viral infection due to IRF7 deficiency
OrphaCode: 574918
DisorderType: Disease
Name: Primary immunodeficiency due to a defect in adaptive immunity
OrphaCode: 179006
DisorderType: Category
Children: Name: Combined T and B cell immunodeficiency
OrphaCode: 101972
DisorderType: Clinical group
Children: Name: Severe combined immunodeficiency
OrphaCode: 183660
DisorderType: Clinical group
Children: Name: T-B+ severe combined immunodeficiency
OrphaCode: 317416
DisorderType: Clinical group
Children: Name: Severe combined immunodeficiency due to LAT deficiency
OrphaCode: 504523
DisorderType: Disease
Name: T-B+ severe combined immunodeficiency due to gamma chain deficiency
OrphaCode: 276
DisorderType: Disease
Name: T-B+ severe combined immunodeficiency due to JAK3 deficiency
OrphaCode: 35078
DisorderType: Disease
Name: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
OrphaCode: 137631
DisorderType: Disease
Name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
OrphaCode: 169154
DisorderType: Disease
Name: T-B+ severe combined immunodeficiency due to CD45 deficiency
OrphaCode: 169157
DisorderType: Disease
Name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
OrphaCode: 169160
DisorderType: Disease
Name: Severe combined immunodeficiency due to CORO1A deficiency
OrphaCode: 228003
DisorderType: Disease
Name: Severe combined immunodeficiency due to FOXN1 deficiency
OrphaCode: 169095
DisorderType: Disease
Name: T-B- severe combined immunodeficiency
OrphaCode: 317419
DisorderType: Clinical group
Children: Name: Severe combined immunodeficiency due to DCLRE1C deficiency
OrphaCode: 275
DisorderType: Disease
Name: Short-limb skeletal dysplasia with severe combined immunodeficiency
OrphaCode: 935
DisorderType: Disease
Name: Severe combined immunodeficiency due to adenosine deaminase deficiency
OrphaCode: 277
DisorderType: Disease
Name: Reticular dysgenesis
OrphaCode: 33355
DisorderType: Disease
Name: Severe combined immunodeficiency due to LCK deficiency
OrphaCode: 280142
DisorderType: Disease
Name: Severe combined immunodeficiency due to DNA-PKcs deficiency
OrphaCode: 317425
DisorderType: Disease
Name: Severe combined immunodeficiency due to complete RAG1/2 deficiency
OrphaCode: 331206
DisorderType: Disease
Name: T+ B+ severe combined immunodeficiency
OrphaCode: 397802
DisorderType: Clinical group
Children: Name: Combined immunodeficiency due to CARD11 deficiency
OrphaCode: 357237
DisorderType: Disease
Name: Severe combined immunodeficiency due to IKK2 deficiency
OrphaCode: 397787
DisorderType: Disease
Name: Severe combined immunodeficiency due to CTPS1 deficiency
OrphaCode: 420573
DisorderType: Disease
Name: Non-severe combined immunodeficiency
OrphaCode: 480549
DisorderType: Category
Children: Name: T-cell immunodeficiency with epidermodysplasia verruciformis
OrphaCode: 324294
DisorderType: Disease
Name: NIK deficiency
OrphaCode: 447731
DisorderType: Disease
Name: Purine nucleoside phosphorylase deficiency
OrphaCode: 760
DisorderType: Disease
Name: Immunodeficiency by defective expression of MHC class II
OrphaCode: 572
DisorderType: Disease
Name: Combined immunodeficiency due to ZAP70 deficiency
OrphaCode: 911
DisorderType: Disease
Name: Immunodeficiency by defective expression of MHC class I
OrphaCode: 34592
DisorderType: Disease
Name: Omenn syndrome
OrphaCode: 39041
DisorderType: Disease
Name: LIG4 syndrome
OrphaCode: 99812
DisorderType: Disease
Name: Combined immunodeficiency with granulomatosis
OrphaCode: 157949
DisorderType: Disease
Name: Cernunnos-XLF deficiency
OrphaCode: 169079
DisorderType: Disease
Name: Combined immunodeficiency due to CD3gamma deficiency
OrphaCode: 169082
DisorderType: Disease
Name: Susceptibility to respiratory infections associated with CD8alpha chain mutation
OrphaCode: 169085
DisorderType: Disease
Name: Hyper-IgM syndrome with susceptibility to opportunistic infections
OrphaCode: 183663
DisorderType: Disease
Children: Name: X-linked hyper-IgM syndrome
OrphaCode: 101088
DisorderType: Clinical subtype
Name: Hyper-IgM syndrome type 3
OrphaCode: 101090
DisorderType: Clinical subtype
Name: Combined immunodeficiency due to DOCK8 deficiency
OrphaCode: 217390
DisorderType: Disease
Name: Idiopathic CD4 lymphocytopenia
OrphaCode: 228000
DisorderType: Biological anomaly
Name: Combined immunodeficiency due to partial RAG1 deficiency
OrphaCode: 231154
DisorderType: Disease
Name: Combined immunodeficiency due to STK4 deficiency
OrphaCode: 314689
DisorderType: Disease
Name: XMEN
OrphaCode: 317476
DisorderType: Disease
Name: Combined immunodeficiency due to IL21R deficiency
OrphaCode: 357329
DisorderType: Disease
Name: TCR-alpha-beta-positive T-cell deficiency
OrphaCode: 397959
DisorderType: Disease
Name: BENTA disease
OrphaCode: 464336
DisorderType: Disease
Name: Combined immunodeficiency due to TFRC deficiency
OrphaCode: 476113
DisorderType: Disease
Name: IL21-related infantile inflammatory bowel disease
OrphaCode: 477661
DisorderType: Disease
Name: Combined immunodeficiency due to CD27 deficiency
OrphaCode: 238505
DisorderType: Disease
Name: Combined immunodeficiency due to DOCK2 deficiency
OrphaCode: 447737
DisorderType: Disease
Name: Combined immunodeficiency due to MALT1 deficiency
OrphaCode: 397964
DisorderType: Disease
Name: Combined immunodeficiency due to OX40 deficiency
OrphaCode: 431149
DisorderType: Disease
Name: X-linked combined immunodeficiency due to SASH3 deficiency
OrphaCode: 653751
DisorderType: Disease
Name: Combined immunodeficiency due to FOXN1 haploinsufficiency
OrphaCode: 676039
DisorderType: Disease
Name: Combined immunodeficiency due to FCHO1 deficiency
OrphaCode: 647804
DisorderType: Disease
Name: Combined immunodeficiency due to Moesin deficiency
OrphaCode: 504530
DisorderType: Disease
Name: Combined immunodeficiency due to CD70 deficiency
OrphaCode: 538958
DisorderType: Disease
Name: Combined immunodeficiency due to CARMIL2 deficiency
OrphaCode: 542301
DisorderType: Disease
Name: Combined immunodeficiency due to ITK deficiency
OrphaCode: 538963
DisorderType: Disease
Name: Combined immunodeficiency due to LRBA deficiency
OrphaCode: 445018
DisorderType: Disease
Name: Combined immunodeficiency due to RELA haploinsufficiency
OrphaCode: 596759
DisorderType: Disease
Name: Immunodeficiency predominantly affecting antibody production
OrphaCode: 101977
DisorderType: Category
Children: Name: Common variable immunodeficiency
OrphaCode: 1572
DisorderType: Disease
Name: Transient hypogammaglobulinemia of infancy
OrphaCode: 169139
DisorderType: Disease
Name: Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
OrphaCode: 169443
DisorderType: Category
Children: Name: Immunodeficiency due to selective anti-polysaccharide antibody deficiency
OrphaCode: 70593
DisorderType: Disease
Name: Agammaglobulinemia
OrphaCode: 183669
DisorderType: Category
Children: Name: Isolated agammaglobulinemia
OrphaCode: 229717
DisorderType: Disease
Children: Name: X-linked agammaglobulinemia
OrphaCode: 47
DisorderType: Clinical subtype
Name: Autosomal agammaglobulinemia
OrphaCode: 33110
DisorderType: Clinical subtype
Name: Syndromic agammaglobulinemia
OrphaCode: 229720
DisorderType: Category
Children: Name: Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
OrphaCode: 632
DisorderType: Clinical subtype
Name: Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
OrphaCode: 83617
DisorderType: Malformation syndrome
Name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
OrphaCode: 567502
DisorderType: Disease
Name: Activated PI3K-delta syndrome
OrphaCode: 397596
DisorderType: Disease
Name: Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
OrphaCode: 331232
DisorderType: Category
Children: Name: X-linked immunoneurologic disorder
OrphaCode: 2571
DisorderType: Disease
Name: Immunoglobulin heavy chain deficiency
OrphaCode: 169110
DisorderType: Disease
Name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
OrphaCode: 183675
DisorderType: Disease
Name: Selective IgM deficiency
OrphaCode: 331235
DisorderType: Disease
Name: Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
OrphaCode: 331240
DisorderType: Category
Children: Name: Hyper-IgM syndrome without susceptibility to opportunistic infections
OrphaCode: 183666
DisorderType: Disease
Children: Name: Hyper-IgM syndrome type 2
OrphaCode: 101089
DisorderType: Clinical subtype
Name: Hyper-IgM syndrome type 4
OrphaCode: 101091
DisorderType: Clinical subtype
Name: Hyper-IgM syndrome type 5
OrphaCode: 101092
DisorderType: Clinical subtype
Name: Constitutional mismatch repair deficiency syndrome
OrphaCode: 252202
DisorderType: Disease
Name: Other immunodeficiency syndrome with predominantly antibody defects
OrphaCode: 331244
DisorderType: Category
Children: Name: Alopecia antibody deficiency
OrphaCode: 1006
DisorderType: Disease
Name: Say-Barber-Miller syndrome
OrphaCode: 3132
DisorderType: Malformation syndrome
Name: Osteopetrosis-hypogammaglobulinemia syndrome
OrphaCode: 178389
DisorderType: Disease
Name: Deficiency in anterior pituitary function-variable immunodeficiency syndrome
OrphaCode: 293978
DisorderType: Disease
Name: Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
OrphaCode: 369861
DisorderType: Disease
Name: Immune dysregulation disease with immunodeficiency
OrphaCode: 169361
DisorderType: Category
Children: Name: Primary hemophagocytic lymphohistiocytosis
OrphaCode: 158038
DisorderType: Clinical group
Children: Name: Primary hemophagocytic lymphohistiocytosis with hypopigmentation
OrphaCode: 331249
DisorderType: Category
Children: Name: Chédiak-Higashi syndrome
OrphaCode: 167
DisorderType: Disease
Name: Griscelli syndrome type 2
OrphaCode: 79477
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to AP-3 deficiency
OrphaCode: 183678
DisorderType: Clinical subtype
Children: Name: Hermansky-Pudlak syndrome due to AP3B1 deficiency
OrphaCode: 664500
DisorderType: Clinical subtype
Name: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
OrphaCode: 664511
DisorderType: Clinical subtype
Name: Primary hemophagocytic lymphohistiocytosis without hypopigmentation
OrphaCode: 664482
DisorderType: Category
Children: Name: Familial hemophagocytic lymphohistiocytosis
OrphaCode: 540
DisorderType: Disease
Name: Lysinuric protein intolerance
OrphaCode: 470
DisorderType: Disease
Name: NOCARH syndrome
OrphaCode: 619363
DisorderType: Disease
Name: Immunodeficiency syndrome with autoimmunity
OrphaCode: 169355
DisorderType: Category
Children: Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome
OrphaCode: 3261
DisorderType: Disease
Name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
OrphaCode: 37042
DisorderType: Disease
Name: Immunodeficiency due to CD25 deficiency
OrphaCode: 169100
DisorderType: Disease
Name: Syndromic multisystem autoimmune disease due to Itch deficiency
OrphaCode: 228426
DisorderType: Disease
Name: RAS-associated autoimmune leukoproliferative disease
OrphaCode: 268114
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
OrphaCode: 275517
DisorderType: Disease
Name: FADD-related immunodeficiency
OrphaCode: 306550
DisorderType: Disease
Name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
OrphaCode: 391487
DisorderType: Disease
Name: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
OrphaCode: 444463
DisorderType: Disease
Name: Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
OrphaCode: 619948
DisorderType: Disease
Name: Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
OrphaCode: 658946
DisorderType: Disease
Name: Dianzani autoimmune lymphoproliferative disease
OrphaCode: 275523
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
OrphaCode: 436159
DisorderType: Disease
Name: STAT3-related early-onset multisystem autoimmune disease
OrphaCode: 438159
DisorderType: Disease
Name: Immune dysregulation with inflammatory bowel disease
OrphaCode: 529974
DisorderType: Clinical group
Children: Name: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
OrphaCode: 238569
DisorderType: Disease
Name: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
OrphaCode: 529977
DisorderType: Disease
Name: Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
OrphaCode: 529980
DisorderType: Disease
Name: X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency
OrphaCode: 676125
DisorderType: Disease
Name: Infantile inflammatory bowel disease with neurological involvement
OrphaCode: 565788
DisorderType: Disease
Name: Early-onset immune dysregulation due to DOCK11 complete deficiency
OrphaCode: 658951
DisorderType: Disease
Name: Immune dysregulation disease with immunodeficiency associated with EBV susceptibility
OrphaCode: 664456
DisorderType: Clinical group
Children: Name: Severe combined immunodeficiency due to CTPS1 deficiency
OrphaCode: 420573
DisorderType: Disease
Name: Combined immunodeficiency due to CARMIL2 deficiency
OrphaCode: 542301
DisorderType: Disease
Name: XMEN
OrphaCode: 317476
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to PRKCD deficiency
OrphaCode: 664711
DisorderType: Disease
Name: Combined immunodeficiency due to ITK deficiency
OrphaCode: 538963
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to RASGRP1 deficiency
OrphaCode: 664699
DisorderType: Disease
Name: Combined immunodeficiency due to CD70 deficiency
OrphaCode: 538958
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to CD137 deficiency
OrphaCode: 664726
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to TET2 deficiency
OrphaCode: 664729
DisorderType: Disease
Name: EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature
OrphaCode: 664734
DisorderType: Clinical group
Children: Name: Combined immunodeficiency due to CD27 deficiency
OrphaCode: 238505
DisorderType: Disease
Name: X-linked lymphoproliferative disease
OrphaCode: 2442
DisorderType: Clinical group
Children: Name: X-linked lymphoproliferative disease due to SAP deficiency
OrphaCode: 538931
DisorderType: Disease
Name: X-linked lymphoproliferative disease due to XIAP deficiency
OrphaCode: 538934
DisorderType: Disease
Name: Syndrome with combined immunodeficiency
OrphaCode: 331217
DisorderType: Category
Children: Name: Wiskott-Aldrich syndrome
OrphaCode: 906
DisorderType: Disease
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Multiple intestinal atresia
OrphaCode: 2300
DisorderType: Morphological anomaly
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Transcobalamin deficiency
OrphaCode: 859
DisorderType: Disease
Name: Hennekam syndrome
OrphaCode: 2136
DisorderType: Malformation syndrome
Name: Absent thumb-short stature-immunodeficiency syndrome
OrphaCode: 2951
DisorderType: Malformation syndrome
Name: Hoyeraal-Hreidarsson syndrome
OrphaCode: 3322
DisorderType: Disease
Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: Hepatic veno-occlusive disease-immunodeficiency syndrome
OrphaCode: 79124
DisorderType: Disease
Name: Hereditary folate malabsorption
OrphaCode: 90045
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia with immunodeficiency
OrphaCode: 98813
DisorderType: Disease
Name: Combined immunodeficiency due to CRAC channel dysfunction
OrphaCode: 169090
DisorderType: Disease
Children: Name: Combined immunodeficiency due to ORAI1 deficiency
OrphaCode: 317428
DisorderType: Clinical subtype
Name: Combined immunodeficiency due to STIM1 deficiency
OrphaCode: 317430
DisorderType: Clinical subtype
Name: DNA repair defect other than combined T-cell and B-cell immunodeficiencies
OrphaCode: 169346
DisorderType: Category
Children: Name: Combined immunodeficiency due to GINS1 deficiency
OrphaCode: 505227
DisorderType: Disease
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Bloom syndrome
OrphaCode: 125
DisorderType: Disease
Name: ICF syndrome
OrphaCode: 2268
DisorderType: Malformation syndrome
Name: Nijmegen breakage syndrome
OrphaCode: 647
DisorderType: Malformation syndrome
Name: Nijmegen breakage syndrome-like disorder
OrphaCode: 240760
DisorderType: Malformation syndrome
Name: RIDDLE syndrome
OrphaCode: 420741
DisorderType: Malformation syndrome
Name: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
OrphaCode: 75391
DisorderType: Disease
Name: Immuno-osseous dysplasia
OrphaCode: 169349
DisorderType: Clinical group
Children: Name: Combined immunodeficiency with facio-oculo-skeletal anomalies
OrphaCode: 221139
DisorderType: Disease
Name: Schimke immuno-osseous dysplasia
OrphaCode: 1830
DisorderType: Disease
Name: Cartilage-hair hypoplasia
OrphaCode: 175
DisorderType: Disease
Name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
OrphaCode: 508533
DisorderType: Disease
Name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
OrphaCode: 508542
DisorderType: Disease
Name: Roifman syndrome
OrphaCode: 353298
DisorderType: Disease
Name: Laron syndrome with immunodeficiency
OrphaCode: 220465
DisorderType: Disease
Name: Pancytopenia due to IKZF1 mutations
OrphaCode: 317473
DisorderType: Disease
Name: Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
OrphaCode: 329173
DisorderType: Disease
Name: Syndome with combined immunodeficiency due to thymic defect
OrphaCode: 331220
DisorderType: Category
Children: Name: Severe combined immunodeficiency due to FOXN1 deficiency
OrphaCode: 169095
DisorderType: Disease
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: T-cell immunodeficiency with thymic aplasia
OrphaCode: 83471
DisorderType: Disease
Name: Jacobsen syndrome
OrphaCode: 2308
DisorderType: Malformation syndrome
Name: Hyper-IgE syndrome
OrphaCode: 331223
DisorderType: Clinical group
Children: Name: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
OrphaCode: 2314
DisorderType: Disease
Name: Netherton syndrome
OrphaCode: 634
DisorderType: Disease
Name: PGM3-CDG
OrphaCode: 443811
DisorderType: Disease
Name: Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
OrphaCode: 641368
DisorderType: Disease
Name: Autosomal dominant combined immunodeficiency due to ERBIN deficiency
OrphaCode: 656912
DisorderType: Disease
Name: Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
OrphaCode: 656313
DisorderType: Disease
Name: Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
OrphaCode: 656300
DisorderType: Disease
Name: Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
OrphaCode: 656283
DisorderType: Disease
Name: Autosomal recessive combined immunodeficiency due to IL6R deficiency
OrphaCode: 656326
DisorderType: Disease
Name: CADINS disease
OrphaCode: 619972
DisorderType: Disease
Name: Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
OrphaCode: 352712
DisorderType: Disease
Name: Combined immunodeficiency-enteropathy spectrum
OrphaCode: 436252
DisorderType: Disease
Name: Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
OrphaCode: 661412
DisorderType: Disease
Name: Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
OrphaCode: 619979
DisorderType: Disease
Name: Hemophagocytic syndrome
OrphaCode: 158032
DisorderType: Category
Children: Name: Primary hemophagocytic lymphohistiocytosis
OrphaCode: 158038
DisorderType: Clinical group
Children: Name: Primary hemophagocytic lymphohistiocytosis with hypopigmentation
OrphaCode: 331249
DisorderType: Category
Children: Name: Chédiak-Higashi syndrome
OrphaCode: 167
DisorderType: Disease
Name: Griscelli syndrome type 2
OrphaCode: 79477
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to AP-3 deficiency
OrphaCode: 183678
DisorderType: Clinical subtype
Children: Name: Hermansky-Pudlak syndrome due to AP3B1 deficiency
OrphaCode: 664500
DisorderType: Clinical subtype
Name: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
OrphaCode: 664511
DisorderType: Clinical subtype
Name: Primary hemophagocytic lymphohistiocytosis without hypopigmentation
OrphaCode: 664482
DisorderType: Category
Children: Name: Familial hemophagocytic lymphohistiocytosis
OrphaCode: 540
DisorderType: Disease
Name: Lysinuric protein intolerance
OrphaCode: 470
DisorderType: Disease
Name: NOCARH syndrome
OrphaCode: 619363
DisorderType: Disease
Name: Secondary hemophagocytic lymphohistiocytosis
OrphaCode: 158041
DisorderType: Category
Children: Name: Hemophagocytic syndrome associated with an infection
OrphaCode: 158048
DisorderType: Particular clinical situation in a disease or syndrome
Name: Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
OrphaCode: 158057
DisorderType: Particular clinical situation in a disease or syndrome
Name: Macrophage activation syndrome
OrphaCode: 158061
DisorderType: Clinical syndrome
Name: Hereditary neutrophilia
OrphaCode: 279943
DisorderType: Disease
Name: Acquired immunodeficiency
OrphaCode: 310050
DisorderType: Category
Children: Name: AIDS wasting syndrome
OrphaCode: 90081
DisorderType: Particular clinical situation in a disease or syndrome
Name: Good syndrome
OrphaCode: 169105
DisorderType: Disease
Name: Acquired neutropenia
OrphaCode: 178996
DisorderType: Category
Children: Name: Neonatal alloimmune neutropenia
OrphaCode: 464370
DisorderType: Disease
Name: Adult idiopathic neutropenia
OrphaCode: 2688
DisorderType: Disease
Name: Felty syndrome
OrphaCode: 47612
DisorderType: Disease
Name: T-cell large granular lymphocyte leukemia
OrphaCode: 86872
DisorderType: Disease
Name: Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
OrphaCode: 306431
DisorderType: Disease