SE-ATLAS

Immundefekt, kombinierter schwerer Transiente Prädisposition für eine invasive bakterielle Eiterinfektion Cernunnos/XLF-Mangel Immundefekt durch MHC Klasse I-Expressionsdefekt Autoinflammatorisches Syndrom mit Immundefekt Immundefekt, kombinierter schwerer, T-B+NK-, durch Gamma-Ketten-Defekt Kombinierter Immundefekt mit multipler intestinaler Atresie Hautkrankheit mit assoziiertem Immundefekt RELA-Haploinsuffizienz-Syndrom Immundefekt, kombinierter nicht-schwerer Primärer Immundefekt durch funktionelle IKAROS-Haploinsuffizienz Immundefekt, erworbener Immundefekt, kombinierter, durch OX40-Mangel Immundefekt, kombinierter schwerer, durch DOCK8-Mangel Immundefekt, primärer, mit Prädisposition zur schweren Virusinfektion Laron-Syndrom mit Immundefekt Immundefekt, primärer, mit Virusinfektion nach MMR-Impfung CEBPE-assoziierte Autoinflammation-Immundefekt-neutrophile Funktionsstörung-Syndrom Primärer Immundefekt durch Störung der adaptiven Immunität PLCG2-associated antibody deficiency and immune dysregulation Immundefekt, kombinierter, durch STK4-Mangel EBV-induzierte lymphoproliferative Krankheit durch CD70-Mangel Immundefekt, kombinierter, durch LCK-Mangel Immundefekt durch regulatorischen Proteinen-Mangel des Komplementsystems EBV-induzierte lymphoproliferative Krankheit durch CARMIL2-Mangel Immundefekt durch Komponenten-Mangel der Komplement-Kaskase Immundefekt durch vorwiegenden Antikörperdefekt Immundefekt, kombinierter, durch ITK-Mangel Primärer Immundefekt durch Anomalie des angeborenen Immunsystems Immundefekt mit Störung des Komplement-Aktivierungsweg Immundefekt, kombinierter, durch CARD11-Mangel FADD-related immunodeficiency Combined immunodeficiency due to FCHO1 deficiency Combined immunodeficiency due to CD3gamma deficiency Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome Griscelli syndrome Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency DNA repair defect other than combined T-cell and B-cell immunodeficiencies Combined immunodeficiency due to CRAC channel dysfunction Omenn syndrome Absent thumb-short stature-immunodeficiency syndrome Nijmegen breakage syndrome Immunodeficiency syndrome with autoimmunity Combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to GINS1 deficiency Immunodeficiency due to CD25 deficiency Combined immunodeficiency due to ZAP70 deficiency Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency Good syndrome Immune dysregulation disease with immunodeficiency Neutrophil immunodeficiency syndrome Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome PGM3-CDG Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Combined immunodeficiency due to CD27 deficiency Immune deficiency due to impaired neutrophil phagocytosis and migration Immunodeficiency due to ficolin3 deficiency Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency Immunodeficiency due to MASP-2 deficiency Familial hyperinflammatory lymphoproliferative immunodeficiency Immunodeficiency due to a classical component pathway complement deficiency Immunodeficiency due to a late component of complement deficiency X-linked combined immunodeficiency due to SASH3 deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome Severe combined immunodeficiency due to complete RAG1/2 deficiency Genetic immune deficiency with skin involvement B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta Autosomal recessive combined immunodeficiency due to IL6R deficiency Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Severe combined immunodeficiency due to CTPS1 deficiency Severe combined immunodeficiency due to IKK2 deficiency Periodic fever-immunodeficiency-thrombocytopenia syndrome Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Immunodeficiency with factor H anomaly T-cell immunodeficiency with thymic aplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome Say-Barber-Miller syndrome Reticular dysgenesis Combined T and B cell immunodeficiency Deficiency in anterior pituitary function-variable immunodeficiency syndrome Primary immunodeficiency Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome Methylenetetrahydrofolate dehydrogenase 1 deficiency Spondylometaphyseal dysplasia with combined immunodeficiency RIDDLE syndrome Wiskott-Aldrich syndrome Primary immunodeficiency syndrome due to LAMTOR2 deficiency Short-limb skeletal dysplasia with severe combined immunodeficiency Other immunodeficiency syndromes due to defects in innate immunity T-cell immunodeficiency with epidermodysplasia verruciformis Severe combined immunodeficiency due to LAT deficiency Immunodeficiency due to absence of thymus Syndrome with combined immunodeficiency Combined immunodeficiency due to Moesin deficiency Combined immunodeficiency due to TFRC deficiency LIG4 syndrome Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells T-B- severe combined immunodeficiency Combined immunodeficiency due to ORAI1 deficiency Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome NIK deficiency Hoyeraal-Hreidarsson syndrome Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies Hypohidrotic ectodermal dysplasia with immunodeficiency Combined immunodeficiency with granulomatosis T-B+ severe combined immunodeficiency due to JAK3 deficiency Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency due to adenosine deaminase deficiency Autosomal dominant combined immunodeficiency due to ERBIN deficiency Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Immunodeficiency by defective expression of MHC class II Hemophagocytic syndrome Combined immunodeficiency due to LRBA deficiency Severe combined immunodeficiency due to FOXN1 deficiency Severe combined immunodeficiency due to CORO1A deficiency Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome Immunodeficiency due to selective anti-polysaccharide antibody deficiency Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Immunodeficiency with factor I anomaly T-B+ severe combined immunodeficiency Combined immunodeficiency due to partial RAG1 deficiency Combined immunodeficiency due to STIM1 deficiency Immunodeficiency-associated lymphoproliferative disease Severe combined immunodeficiency due to DNA-PKcs deficiency Combined immunodeficiency due to DOCK2 deficiency