SE-ATLAS

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