SE-ATLAS

Immunodeficiency due to absence of thymus Primary immunodeficiency due to a defect in adaptive immunity Immunodeficiency with factor I anomaly Hyper-IgE syndrome Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Syndrome with combined immunodeficiency Hypohidrotic ectodermal dysplasia with immunodeficiency Immunodeficiency with factor H anomaly Mendelian susceptibility to mycobacterial diseases Recurrent Neisseria infections due to factor D deficiency Severe combined immunodeficiency due to IKK2 deficiency Familial Mediterranean fever Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Hyperimmunoglobulinemia D with periodic fever Lichtenstein syndrome Sterile multifocal osteomyelitis with periostitis and pustulosis Common variable immunodeficiency Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Susceptibility to infection due to TYK2 deficiency Severe combined immunodeficiency FADD-related immunodeficiency Rare immune disease Reticular dysgenesis Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Autosomal dominant severe congenital neutropenia Purine nucleoside phosphorylase deficiency Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Immunodeficiency due to selective anti-polysaccharide antibody deficiency WHIM syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Selective IgM deficiency Spondyloenchondrodysplasia Hyper-IgM syndrome with susceptibility to opportunistic infections Agammaglobulinemia ICF syndrome Immunodeficiency by defective expression of MHC class I Hyper-IgM syndrome without susceptibility to opportunistic infections Immunodeficiency syndrome with hypopigmentation Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Pancytopenia due to IKZF1 mutations Absent thumb-short stature-immunodeficiency syndrome CINCA syndrome DNA repair defect other than combined T-cell and B-cell immunodeficiencies PFAPA syndrome Cernunnos-XLF deficiency Wiskott-Aldrich syndrome Combined T and B cell immunodeficiency Idiopathic CD4 lymphocytopenia Other immunodeficiency syndrome with predominantly antibody defects Tumor necrosis factor receptor 1 associated periodic syndrome Immuno-osseous dysplasia T+ B+ severe combined immunodeficiency Immunodeficiency predominantly affecting antibody production Combined immunodeficiency due to ZAP70 deficiency Hermansky-Pudlak syndrome due to AP-3 deficiency Combined immunodeficiency due to CD27 deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Severe dermatitis-multiple allergies-metabolic wasting syndrome Cyclic neutropenia Severe combined immunodeficiency due to CORO1A deficiency Combined immunodeficiency due to CD3gamma deficiency Immunodeficiency syndrome with autoimmunity Poikiloderma with neutropenia T-cell immunodeficiency with epidermodysplasia verruciformis Functional neutrophil defect Griscelli syndrome type 2 Immune dysregulation disease with immunodeficiency Lymphoproliferative syndrome Susceptibility to respiratory infections associated with CD8alpha chain mutation Neutropenia-monocytopenia-deafness syndrome X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Congenital neutropenia-myelofibrosis-nephromegaly syndrome Majeed syndrome Primary hemophagocytic lymphohistiocytosis Ataxia-telangiectasia Monocytopenia with susceptibility to infections TCR-alpha-beta-positive T-cell deficiency RAS-associated autoimmune leukoproliferative disease Nijmegen breakage syndrome Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Properdin deficiency Primary immunodeficiency due to a defect in innate immunity Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Constitutional neutropenia Autosomal agammaglobulinemia Leukocyte adhesion deficiency Combined immunodeficiency due to CRAC channel dysfunction Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency NLRP3-associated autoinflammatory disease Combined immunodeficiency due to partial RAG1 deficiency Chronic granulomatous disease Syndromic multisystem autoimmune disease due to Itch deficiency Chronic mucocutaneous candidiasis Immunodeficiency due to a complement cascade protein anomaly Severe combined immunodeficiency due to FOXN1 deficiency Immunodeficiency due to CD25 deficiency LIG4 syndrome Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Barth syndrome Primary immunodeficiency PAPA syndrome Ataxia-telangiectasia-like disorder Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency X-linked immunoneurologic disorder Short-limb skeletal dysplasia with severe combined immunodeficiency Combined immunodeficiency due to MALT1 deficiency Complement component 3 deficiency Combined immunodeficiency due to DOCK8 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Neutrophil immunodeficiency syndrome Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency X-linked lymphoproliferative disease Combined immunodeficiency due to IL21R deficiency Immunoglobulin heavy chain deficiency Autoimmune lymphoproliferative syndrome Bloom syndrome Familial cold urticaria Severe combined immunodeficiency due to LCK deficiency Osteopetrosis-hypogammaglobulinemia syndrome Genetic susceptibility to infections due to particular pathogens Vici syndrome Shwachman-Diamond syndrome Familial hemophagocytic lymphohistiocytosis Say-Barber-Miller syndrome Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Myeloperoxidase deficiency Bacterial susceptibility due to TLR signaling pathway deficiency Papillon-Lefèvre syndrome Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency T-cell immunodeficiency with thymic aplasia Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Leukocyte adhesion deficiency type I Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Dyskeratosis congenita Severe combined immunodeficiency due to DCLRE1C deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency Severe combined immunodeficiency due to adenosine deaminase deficiency Leukocyte adhesion deficiency type III Leukocyte adhesion deficiency type II Primary immunodeficiency syndrome due to LAMTOR2 deficiency Dianzani autoimmune lymphoproliferative disease Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Combined immunodeficiency with granulomatosis Familial isolated congenital asplenia Autoimmune lymphoproliferative syndrome with recurrent viral infections Transient hypogammaglobulinemia of infancy Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Recurrent infection due to specific granule deficiency Hyperzincemia and hypercalprotectinemia Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Pearson syndrome Hepatic veno-occlusive disease-immunodeficiency syndrome Immunodeficiency due to a classical component pathway complement deficiency Activated PI3K-delta syndrome Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Herpes simplex virus encephalitis 22q11.2 deletion syndrome Hyper-IgM syndrome type 2 X-linked hyper-IgM syndrome Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 3 Combined immunodeficiency due to CARD11 deficiency Immunodeficiency due to MASP-2 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency Immunodeficiency due to a late component of complement deficiency Immunodeficiency by defective expression of MHC class II Hyper-IgM syndrome type 5 Epidermodysplasia verruciformis Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Muckle-Wells syndrome Nijmegen breakage syndrome-like disorder Constitutional neutropenia with extra-hematopoietic manifestations PLCG2-associated antibody deficiency and immune dysregulation Chédiak-Higashi syndrome T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B- severe combined immunodeficiency T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta Isolated agammaglobulinemia Omenn syndrome T-B+ severe combined immunodeficiency due to CD45 deficiency Immunodeficiency due to ficolin3 deficiency T-B+ severe combined immunodeficiency Cartilage-hair hypoplasia Syndromic agammaglobulinemia Combined immunodeficiency due to STK4 deficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Other immunodeficiency syndromes due to defects in innate immunity Combined immunodeficiency due to ORAI1 deficiency Roifman syndrome X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency Combined immunodeficiency due to STIM1 deficiency Autoimmune polyendocrinopathy type 1 Severe combined immunodeficiency due to complete RAG1/2 deficiency X-linked severe congenital neutropenia X-linked mendelian susceptibility to mycobacterial diseases Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Severe congenital neutropenia Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome X-linked agammaglobulinemia Severe combined immunodeficiency due to DNA-PKcs deficiency Kostmann syndrome Hoyeraal-Hreidarsson syndrome Blau syndrome Deficiency in anterior pituitary function-variable immunodeficiency syndrome Combined immunodeficiency with facio-oculo-skeletal anomalies Laron syndrome with immunodeficiency Cohen syndrome Autoinflammatory syndrome with immune deficiency Schimke immuno-osseous dysplasia