SE-ATLAS

22q11.2 deletion syndrome Absent thumb-short stature-immunodeficiency syndrome Acquired hemophagocytic lymphohistiocytosis associated with malignant disease Acquired immunodeficiency Acquired neutropenia Activated PI3K-delta syndrome Acute graft versus host disease Adult idiopathic neutropenia Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies Agammaglobulinemia Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Anti-HLA hyperimmunization Anti-neutrophil cytoplasmic antibody-associated vasculitis Ataxia-telangiectasia Ataxia-telangiectasia-like disorder Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome with recurrent viral infections Autoimmune polyendocrinopathy type 1 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Autoinflammatory syndrome of childhood Autoinflammatory syndrome with immune deficiency Autosomal agammaglobulinemia Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal dominant severe congenital neutropenia Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Bacterial susceptibility due to TLR signaling pathway deficiency Barth syndrome Behçet disease Blau syndrome Bloom syndrome CANDLE syndrome CINCA syndrome CREST syndrome Cartilage-hair hypoplasia Cernunnos-XLF deficiency Chronic graft versus host disease Chronic granulomatous disease Chronic mucocutaneous candidiasis Chédiak-Higashi syndrome Cogan syndrome Cohen syndrome Combined T and B cell immunodeficiency Combined immunodeficiency due to CARD11 deficiency Combined immunodeficiency due to CD27 deficiency Combined immunodeficiency due to CD3gamma deficiency Combined immunodeficiency due to CRAC channel dysfunction Combined immunodeficiency due to DOCK8 deficiency Combined immunodeficiency due to IL21R deficiency Combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to STIM1 deficiency Combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to ZAP70 deficiency Combined immunodeficiency due to partial RAG1 deficiency Combined immunodeficiency with facio-oculo-skeletal anomalies Combined immunodeficiency with granulomatosis Common variable immunodeficiency Complement component 3 deficiency Congenital neutropenia-myelofibrosis-nephromegaly syndrome Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Constitutional neutropenia Constitutional neutropenia with extra-hematopoietic manifestations Cryoglobulinemic vasculitis Cyclic neutropenia DNA repair defect other than combined T-cell and B-cell immunodeficiencies Deficiency in anterior pituitary function-variable immunodeficiency syndrome Dianzani autoimmune lymphoproliferative disease Drug-induced vasculitis Dyskeratosis congenita Enthesitis-related juvenile idiopathic arthritis Eosinophilic fasciitis Eosinophilic granulomatosis with polyangiitis Epidermodysplasia verruciformis FADD-related immunodeficiency Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Familial Mediterranean fever Familial cold urticaria Familial hemophagocytic lymphohistiocytosis Familial isolated congenital asplenia Felty syndrome Functional neutrophil defect Genetic susceptibility to infections due to particular pathogens Giant cell arteritis Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Good syndrome Gorham-Stout disease Graft versus host disease Granulomatosis with polyangiitis Granulomatous autoinflammatory syndrome of childhood Griscelli syndrome type 2 Hajdu-Cheney syndrome Hemophagocytic syndrome Hemophagocytic syndrome associated with an infection Hepatic veno-occlusive disease-immunodeficiency syndrome Hereditary neutrophilia Hereditary periodic fever syndrome Hermansky-Pudlak syndrome due to AP-3 deficiency Herpes simplex virus encephalitis Hoyeraal-Hreidarsson syndrome Hyper-IgE syndrome Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Hyper-IgM syndrome with susceptibility to opportunistic infections Hyper-IgM syndrome without susceptibility to opportunistic infections Hyperimmunoglobulinemia D with periodic fever Hyperzincemia and hypercalprotectinemia Hypocomplementemic urticarial vasculitis Hypohidrotic ectodermal dysplasia with immunodeficiency ICF syndrome Idiopathic CD4 lymphocytopenia Idiopathic juvenile osteoporosis Idiopathic recurrent pericarditis Immune dysregulation disease with immunodeficiency Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immuno-osseous dysplasia Immunodeficiency by defective expression of MHC class I Immunodeficiency by defective expression of MHC class II Immunodeficiency due to CD25 deficiency Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to a classical component pathway complement deficiency Immunodeficiency due to a complement cascade protein anomaly Immunodeficiency due to a late component of complement deficiency Immunodeficiency due to absence of thymus Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency predominantly affecting antibody production Immunodeficiency syndrome with autoimmunity Immunodeficiency syndrome with hypopigmentation Immunodeficiency with factor H anomaly Immunodeficiency with factor I anomaly Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Immunoglobulin A vasculitis Immunoglobulin heavy chain deficiency Infantile onset panniculitis with uveitis and systemic granulomatosis Isolated agammaglobulinemia JMP syndrome Juvenile dermatomyositis Juvenile idiopathic arthritis Juvenile polymyositis Kawasaki disease Kostmann syndrome LIG4 syndrome Laron syndrome with immunodeficiency Leukocyte adhesion deficiency Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type III Lichtenstein syndrome Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Lymphoproliferative syndrome Macrophage activation syndrome Majeed syndrome Mendelian susceptibility to mycobacterial diseases Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Microscopic polyangiitis Mixed autoinflammatory and autoimmune syndrome Mixed connective tissue disease Mixed cryoglobulinemia type II Mixed cryoglobulinemia type III Monocytopenia with susceptibility to infections Muckle-Wells syndrome Myeloperoxidase deficiency NLRP12-associated hereditary periodic fever syndrome NLRP3-associated autoinflammatory disease Nakajo-Nishimura syndrome Neutropenia-monocytopenia-deafness syndrome Neutrophil immunodeficiency syndrome Nijmegen breakage syndrome Nijmegen breakage syndrome-like disorder Oligoarticular juvenile idiopathic arthritis Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies Omenn syndrome Osteopetrosis-hypogammaglobulinemia syndrome Other immunodeficiency syndrome with predominantly antibody defects Other immunodeficiency syndromes due to defects in innate immunity Overlapping connective tissue disease PAPA syndrome PFAPA syndrome PLCG2-associated antibody deficiency and immune dysregulation Pancytopenia due to IKZF1 mutations Papillon-Lefèvre syndrome Pearson syndrome Pediatric Castleman disease Pediatric systemic lupus erythematosus Periodic fever syndrome of childhood Poikiloderma with neutropenia Polyarticular juvenile idiopathic arthritis Postinfectious vasculitis Primary hemophagocytic lymphohistiocytosis Primary immunodeficiency Primary immunodeficiency due to a defect in adaptive immunity Primary immunodeficiency due to a defect in innate immunity Primary immunodeficiency syndrome due to LAMTOR2 deficiency Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Properdin deficiency Proteasome-associated autoinflammatory syndrome Psoriasis-related juvenile idiopathic arthritis Purine nucleoside phosphorylase deficiency Pyogenic autoinflammatory syndrome of childhood RAS-associated autoimmune leukoproliferative disease Rare immune disease Rare pediatric systemic disease Rare pediatric vasculitis Rare systemic or rheumatological disease of childhood Reactive arthritis Recurrent Neisseria infections due to factor D deficiency Recurrent infection due to specific granule deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Relapsing polychondritis Reticular dysgenesis Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Roifman syndrome Sarcoidosis Say-Barber-Miller syndrome Schimke immuno-osseous dysplasia Secondary hemophagocytic lymphohistiocytosis Selective IgM deficiency Severe combined immunodeficiency Severe combined immunodeficiency due to CORO1A deficiency Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency due to FOXN1 deficiency Severe combined immunodeficiency due to LCK deficiency Severe combined immunodeficiency due to adenosine deaminase deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency Severe congenital neutropenia Severe dermatitis-multiple allergies-metabolic wasting syndrome Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Short-limb skeletal dysplasia with severe combined immunodeficiency Shwachman-Diamond syndrome Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Spondyloenchondrodysplasia Sterile multifocal osteomyelitis with periostitis and pustulosis Susceptibility to infection due to TYK2 deficiency Susceptibility to respiratory infections associated with CD8alpha chain mutation Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Sweet syndrome Syndrome with combined immunodeficiency Syndromic agammaglobulinemia Syndromic multisystem autoimmune disease due to Itch deficiency Systemic-onset juvenile idiopathic arthritis T-B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency T-B- severe combined immunodeficiency T-cell immunodeficiency with epidermodysplasia verruciformis T-cell immunodeficiency with thymic aplasia T-cell large granular lymphocyte leukemia Takayasu arteritis Transient hypogammaglobulinemia of infancy Tumor necrosis factor receptor 1 associated periodic syndrome Twin to twin transfusion syndrome Unclassified autoinflammatory syndrome of childhood Unclassified vasculitis Unexplained long-lasting fever/inflammatory syndrome Unexplained periodic fever syndrome of childhood Unspecified juvenile idiopathic arthritis Vici syndrome WHIM syndrome Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper-IgM syndrome X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunoneurologic disorder X-linked lymphoproliferative disease X-linked mendelian susceptibility to mycobacterial diseases X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency X-linked severe congenital neutropenia