SE-ATLAS

Absent thumb-short stature-immunodeficiency syndrome Acquired immunodeficiency Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome Autoinflammatory syndrome with immune deficiency Autosomal dominant combined immunodeficiency due to ERBIN deficiency Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency Autosomal recessive combined immunodeficiency due to IL6R deficiency Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Autre syndrome de déficit immunitaire par défaut de l'immunité innée Autre syndrome de déficit immunitaire par déficit de production d'anticorps B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome Cernunnos-XLF deficiency Combined T and B cell immunodeficiency Combined immunodeficiency due to CARD11 deficiency Combined immunodeficiency due to CARMIL2 deficiency Combined immunodeficiency due to CD27 deficiency Combined immunodeficiency due to CD3gamma deficiency Combined immunodeficiency due to CD70 deficiency Combined immunodeficiency due to CRAC channel dysfunction Combined immunodeficiency due to DOCK2 deficiency Combined immunodeficiency due to DOCK8 deficiency Combined immunodeficiency due to FCHO1 deficiency Combined immunodeficiency due to GINS1 deficiency Combined immunodeficiency due to ITK deficiency Combined immunodeficiency due to LRBA deficiency Combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to OX40 deficiency Combined immunodeficiency due to RELA haploinsufficiency 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 granulomatosis Combined immunodeficiency-enteropathy spectrum Common variable immunodeficiency Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome DNA repair defect other than combined T-cell and B-cell immunodeficiencies Deficiency in anterior pituitary function-variable immunodeficiency syndrome Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome Déficit immunitaire combiné par déficit en Moesin Déficit immunitaire combiné par déficit en TFRC Déficit immunitaire combiné sévère T+B+ Déficit immunitaire combiné sévère par déficit en LAT Déficit immunitaire par absence de thymus Déficit immunitaire à cellules T avec épidermodysplasie verruciforme Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome FADD-related immunodeficiency Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Familial hyperinflammatory lymphoproliferative immunodeficiency Genetic immune deficiency with skin involvement Good syndrome Griscelli syndrome Hoyeraal-Hreidarsson syndrome Hypohidrotic ectodermal dysplasia with immunodeficiency Immune deficiency due to impaired neutrophil phagocytosis and migration Immune deficiency with skin involvement Immune dysregulation disease with immunodeficiency 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 component deficiency Immunodeficiency due to a complement cascade protein anomaly Immunodeficiency due to a complement regulatory deficiency Immunodeficiency due to a late component of complement deficiency 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 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 Immunodeficiency-associated lymphoproliferative disease Laron syndrome with immunodeficiency Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Methylenetetrahydrofolate dehydrogenase 1 deficiency NIK deficiency Neutrophil immunodeficiency syndrome Nijmegen breakage syndrome Non-severe combined immunodeficiency Omenn syndrome PGM3-CDG PLCG2-associated antibody deficiency and immune dysregulation Pancytopenia due to IKZF1 mutations Periodic fever-immunodeficiency-thrombocytopenia syndrome 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 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Primary immunodeficiency with predisposition to severe viral infection RIDDLE syndrome Reticular dysgenesis Say-Barber-Miller syndrome Severe combined immunodeficiency Severe combined immunodeficiency due to CORO1A deficiency Severe combined immunodeficiency due to CTPS1 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 IKK2 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 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome Spondylometaphyseal dysplasia with combined immunodeficiency Syndrome LIG4 Syndrome avec déficit immunitaire combiné Syndrome de dysplasie osseuse à membres courts-déficit immunitaire combiné sévère Syndrome de verrues multiples-déficit immunitaire-lymphoedème-dysplasies anogénitales 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 thymic aplasia Wiskott-Aldrich syndrome X-linked combined immunodeficiency due to SASH3 deficiency X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia