SE-ATLAS

Immundefekt, kombinierter nicht-schwerer Neutropenie, konstitutionelle Schwere rekurrente Infektionen mit neutrophiler Dysfunktion Immundefektsyndrom, variables Ataxia-Teleangiectasia Primärer Immundefekt durch Anomalie des angeborenen Immunsystems Mendelsche Anfälligkeit für Erkrankungen durch Mykobakterien, autosomal-rezessive, durch kompletten RORgamma-Rezeptor-Mangel Wiskott-Aldrich-Syndrom Immundefekt, primärer Hyper-IgM-Syndrom mit opportunistischen Infektionen Immundefekt, kombinierter schwerer Transiente Hypogammaglobulinämie der Kindheit Immundefekt, primärer, mit Prädisposition zur schweren Virusinfektion Immundysregulation mit Immundefekt NIK-Mangel Autosomal-rezessiver primärer Immundefekt mit defekter spontaner natürlicher Killer-Zellen-Zytotoxizität Agammaglobulinämie Immundefekt, primärer, mit Virusinfektion nach MMR-Impfung Immundefekt mit vorwiegender Beeinträchtigung der Antikörper-Produktion Primärer Immundefekt durch Störung der adaptiven Immunität Primärer Immundefekt mit Mangel der natürlichen Killerzellen und Nebenniereninsuffizienz Leukozytenadhäsionsdefekt Typ II Leukozytenadhäsionsdefekt Typ I Leukozytenadhäsionsdefekt Typ III Immundefekt, kombinierter schwerer, T- B+ infolge JAK3-Mangel Hyper-IgE-Syndrom, autosomal-dominantes Immuno-neurologische Krankheit, X-chromosomale T-Zell-Immundefekt mit Thymusaplasie Immundefekt, kombinierter schwerer, durch DCLRE1C-Mangel Immundefekt, kombinierter schwerer, durch Gamma-Ketten-Defekt, T- B+ Immundefekt, kombinierter schwerer, durch Adenosin-Desaminase-Mangel Aktivierendes PIK3-delta-Syndrom Kein Name gefunden Immundefekt durch MHC Klasse I-Expressionsdefekt Immundefekt, X-chromosomaler, mit Magnesium-Defekt, Epstein-Barr-Virus-Infektion und Neoplasie Kein Name gefunden Panzytopenie durch IKZF1-Genmutationen Immundefekt, kombinierter, durch OX40-Mangel Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch kompletten Defekt Immundefekt, kombinierter schwerer, durch DOCK8-Mangel Agammaglobulinämie, X-chromosomale Laron-Syndrom mit Immundefekt Autosomal-dominante Suszeptibilität für Mykobakteriosen durch partiellen Defekt Deletion 22q11 Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch partiellen Defekt Suszeptibilität für Mykobakteriosen durch kompletten IFN-gamma-R1-Defekt Immundefekt durch MHC Klasse II-Expressionsdefekt Suszeptibilität für Mykobakteriosen durch kompletten IFN-gamma-R2-Defekt Komplement-Komponente 3-Mangel Suszeptibilität für Mykobakteriosen durch kompletten IL12B-Defekt Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Combined immunodeficiency due to STK4 deficiency Severe combined immunodeficiency due to LCK deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Combined T and B cell immunodeficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal agammaglobulinemia Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Combined immunodeficiency due to LRBA deficiency C1 inhibitor deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Immunodeficiency due to a complement cascade protein anomaly Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Hyper-IgM syndrome without susceptibility to opportunistic infections Combined immunodeficiency due to CARD11 deficiency X-linked mendelian susceptibility to mycobacterial diseases Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Cernunnos-XLF deficiency Poikiloderma with neutropenia Combined immunodeficiency due to CD3gamma deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency Susceptibility to respiratory infections associated with CD8alpha chain mutation Combined immunodeficiency due to CRAC channel dysfunction Omenn syndrome TCR-alpha-beta-positive T-cell deficiency Neutropenia-monocytopenia-deafness syndrome RIDDLE syndrome X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Severe combined immunodeficiency due to FOXN1 deficiency Predisposition to invasive fungal disease due to CARD9 deficiency Absent thumb-short stature-immunodeficiency syndrome Combined immunodeficiency due to MALT1 deficiency X-linked lymphoproliferative disease Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Immunodeficiency due to CD25 deficiency Combined immunodeficiency due to ZAP70 deficiency Immunoglobulin heavy chain deficiency Leukocyte adhesion deficiency Genetic susceptibility to infections due to particular pathogens Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Severe combined immunodeficiency due to CORO1A deficiency Bacterial susceptibility due to TLR signaling pathway deficiency Primary immunodeficiency syndrome due to LAMTOR2 deficiency Short-limb skeletal dysplasia with severe combined immunodeficiency Immunodeficiency due to ficolin3 deficiency WHIM syndrome Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to a classical component pathway complement deficiency Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency Immunodeficiency due to a late component of complement deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency T-cell immunodeficiency with epidermodysplasia verruciformis Severe combined immunodeficiency due to complete RAG1/2 deficiency T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta Immunodeficiency due to absence of thymus Hyper-IgE syndrome Hereditary angioedema type 2 Hereditary angioedema type 1 F12-related hereditary angioedema with normal C1Inh Severe combined immunodeficiency due to CTPS1 deficiency ICF syndrome Severe combined immunodeficiency due to IKK2 deficiency Hyper-IgM syndrome type 2 Immunodeficiency with factor I anomaly Hyper-IgM syndrome type 3 LIG4 syndrome Immunodeficiency with factor H anomaly T-B+ severe combined immunodeficiency T+ B+ severe combined immunodeficiency Combined immunodeficiency due to ORAI1 deficiency Severe combined immunodeficiency due to DNA-PKcs deficiency Purine nucleoside phosphorylase deficiency Recurrent Neisseria infections due to factor D deficiency Combined immunodeficiency due to DOCK2 deficiency Susceptibility to infection due to TYK2 deficiency X-linked hyper-IgM syndrome Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Selective IgM deficiency Other immunodeficiency syndrome with predominantly antibody defects Mendelian susceptibility to mycobacterial diseases T-B- severe combined immunodeficiency Combined immunodeficiency due to partial RAG1 deficiency Combined immunodeficiency due to STIM1 deficiency Hereditary angioedema Primary CD59 deficiency Hypohidrotic ectodermal dysplasia with immunodeficiency