SE-ATLAS

Immundefekt-Syndrom mit Hypopigmentierung Immundefekt mit Isotypen- oder Leichtketten-Mangel und normaler Anzahl B-Zellen Mittelmeerfieber, familiäres Sterile multifokale Osteomyelitis mit Periostitis und Pustulose T- und B-Zell-Immundefekt, kombinierter Kleinwuchs durch isolierten Wachstumshormonmangel mit X-chromosomaler Hypogammaglobulinämie Autoimmunkrankheit, multisystemische syndromale, durch Itch-Mangel Fehlende Daumen-Kleinwuchs-Immundefekt-Syndrom Panzytopenie durch IKZF1-Genmutationen Leukozytenadhäsionsdefekt Agammaglobulinämie, autosomal-rezessive Agammaglobulinämie, syndromale Primärer Immundefekt mit Mangel der natürlichen Killerzellen und Nebenniereninsuffizienz Immundefekt, kombinierter schwerer, durch FOXN1-Defizienz CINCA-Syndrom Dyskeratosis congenita Hyperimmunglobulinämie D mit Rückfallfieber T-Zell-Immundefekt mit Epidermodysplasia verruciformis Immundefekt, kombinierter schwerer, durch DCLRE1C-Mangel Primärer Immundefekt durch Anomalie des angeborenen Immunsystems Wiskott-Aldrich-Syndrom Suszeptibilität für Mykobakteriosen, X-chromosomal RAS-assoziierte autoimmun-lymphoproliferative Krankheit Neisseria-Infektionen, rekurrente, durch Faktor D-Mangel Syndrome mit kombiniertem Immundefekt Agammaglobulinämie Immundefekt, kombinierter schwerer, T- B+, durch CD3delta/CD3epsilon/CD3zeta-Defekt Lichtenstein-Syndrom Monozytopenie mit erhöhter Infektionsanfälligkeit Immundefekt, kombinierter schwerer, durch Gamma-Ketten-Defekt, T- B+ Leukozytenadhäsionsdefekt Typ II X-chromosomale Suszeptibilität für Mykobakteriosen durch CYBB-Defekt Primäres Immundefekt-Syndrom durch LAMTOR2-Defizienz PFAPA-Syndrom Immundefektsyndrom, variables Herpes-simplex-Enzephalitis Autosomal-dominante Suszeptibilität für Mykobakteriosen durch partiellen IFN-gamma-R2-Defekt Immundefekt, kombinierter, durch MALT1-Mangel IgM-Mangel, selektiver PLCG2-associated antibody deficiency and immune dysregulation Tumornekrosefaktor-Rezeptor 1-assoziiertes periodisches Fieber-Syndrom Konstitutionelle Neutropenie mit extrahämatopoetischen Manifestationen Granulomatose, chronische Defekt der schweren Immunglobulinkette Lymphoproliferative Krankheit, X-chromosomale Immundefekt, kombinierter schwerer, durch Adenosin-Desaminase-Mangel Candidose, chronische mukokutane Leukozytenadhäsionsdefekt Typ I Deletion 22q11 Knorpel-Haar-Hypoplasie Immundefekt, X-chromosomaler, mit Magnesium-Defekt, Epstein-Barr-Virus-Infektion und Neoplasie Dysplasie, immuno-ossäre Immundefekt, kombinierter schwerer, durch DNA-PKcs-Mangel Autoimmun-lymphoproliferatives Syndrom Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch partiellen Defekt Kongenitale sideroblastische Anämie-B-Zell-Immundefekt-periodisches Fieber-Entwicklungsverzögerung-Syndrom Suszeptibilität für Mykobakteriosen durch partiellen IRF8-Defekt Hyper-IgM-Syndrom Typ 2 Sonstige Immundefekt-Syndrome mit vorwiegendem Antikörper-Defekt Immunkrankheit, seltene Rezidivierende Infekte mit assoziierten Immunoglobulin-Isotypen Immundefekt durch Komplementdefekt bei Störung einer späten Komponente Sonstiges Immundefekt-Syndrom durch Störung der adaptiven Immunität Neutropenie, kongenitale schwere, autosomal-rezessive, durch G6PC3-Mangel Cohen-Syndrom Immundefekt, kombinierter, mit Granulomatose Bloom-Syndrom Knochendysplasie, immuno-ossäre, Typ Schimke Immundefekt, kombinierter schwerer, durch IKK2-Mangel Autoinflammatorisches Syndrom mit Immundefekt Poikilodermie mit Neutropenie Immundefekt, kombinierter schwerer, T-B- Hyper-IgM-Syndrom, X-chromosomales Immundefekt-Syndrom mit Autoimmunität Kombinierter Immundefekt durch IL21R-Mangel Immundefekt, kombinierter, durch CD3-gamma-Mangel Immundefekt durch CD25-Mangel Genetische Prädisposition für Infektionen durch spezifische Pathogene Lymphoproliferative Krankheit, autosomal-rezessive Leukozytenadhäsionsdefekt Typ III Immundefekt, kombinierter schwerer, durch CORO1A-Mangel Komplement-Komponente 3-Mangel Immundefekt mit Störung des Komplement-Aktivierungsweg Anhidrotische ektodermale Dysplasie-Immundefekt-Osteopetrose-Lymphödem-Syndrom Immunodeficiency with factor I anomaly Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Autoimmune lymphoproliferative syndrome with recurrent viral infections Cernunnos-XLF deficiency Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Immunodeficiency due to a classical component pathway complement deficiency Combined immunodeficiency due to ZAP70 deficiency Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Familial cold urticaria Neutrophil immunodeficiency syndrome Deficiency in anterior pituitary function-variable immunodeficiency syndrome Reticular dysgenesis Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency TCR-alpha-beta-positive T-cell deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Idiopathic CD4 lymphocytopenia Hyper-IgM syndrome type 3 Combined immunodeficiency due to partial RAG1 deficiency Autosomal dominant severe congenital neutropenia NLRP3-associated autoinflammatory disease Barth syndrome LIG4 syndrome T-B+ severe combined immunodeficiency due to JAK3 deficiency Laron syndrome with immunodeficiency Immunodeficiency predominantly affecting antibody production Osteopetrosis-hypogammaglobulinemia syndrome Autoimmune polyendocrinopathy type 1 Primary hemophagocytic lymphohistiocytosis Hyper-IgE syndrome Severe combined immunodeficiency due to complete RAG1/2 deficiency Cyclic neutropenia Nijmegen breakage syndrome-like disorder Hyper-IgM syndrome with susceptibility to opportunistic infections Primary immunodeficiency Immunodeficiency by defective expression of MHC class II Immunodeficiency due to selective anti-polysaccharide antibody deficiency Dianzani autoimmune lymphoproliferative disease Vici syndrome Shwachman-Diamond syndrome Combined immunodeficiency due to STIM1 deficiency Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Purine nucleoside phosphorylase deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Lymphoproliferative syndrome Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Severe dermatitis-multiple allergies-metabolic wasting syndrome Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome X-linked severe congenital neutropenia Immunodeficiency due to ficolin3 deficiency Ataxia-telangiectasia-like disorder Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Functional neutrophil defect Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency PAPA syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Familial hemophagocytic lymphohistiocytosis Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency T-B+ severe combined immunodeficiency Familial isolated congenital asplenia WHIM syndrome Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Severe combined immunodeficiency Say-Barber-Miller syndrome T+ B+ severe combined immunodeficiency Kostmann syndrome Primary immunodeficiency due to a defect in adaptive immunity Epidermodysplasia verruciformis Immunodeficiency with factor H anomaly Muckle-Wells syndrome Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Myeloperoxidase deficiency Combined immunodeficiency due to STK4 deficiency Bacterial susceptibility due to TLR signaling pathway deficiency Susceptibility to infection due to TYK2 deficiency Susceptibility to respiratory infections associated with CD8alpha chain mutation X-linked agammaglobulinemia Hermansky-Pudlak syndrome due to AP-3 deficiency Activated PI3K-delta syndrome Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Papillon-Lefèvre syndrome Griscelli syndrome type 2 Neutropenia-monocytopenia-deafness syndrome Blau syndrome Chédiak-Higashi syndrome Hypohidrotic ectodermal dysplasia with immunodeficiency X-linked immunoneurologic disorder Hyperzincemia and hypercalprotectinemia Spondyloenchondrodysplasia Roifman syndrome Severe congenital neutropenia Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency DNA repair defect other than combined T-cell and B-cell immunodeficiencies Isolated agammaglobulinemia Combined immunodeficiency due to CRAC channel dysfunction Short-limb skeletal dysplasia with severe combined immunodeficiency Recurrent infection due to specific granule deficiency Hoyeraal-Hreidarsson syndrome Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Ataxia-telangiectasia Immunodeficiency due to absence of thymus Mendelian susceptibility to mycobacterial diseases Congenital neutropenia-myelofibrosis-nephromegaly syndrome Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Majeed syndrome Combined immunodeficiency due to DOCK8 deficiency FADD-related immunodeficiency Omenn syndrome Immunodeficiency due to MASP-2 deficiency T-cell immunodeficiency with thymic aplasia Severe combined immunodeficiency due to LCK deficiency Combined immunodeficiency with facio-oculo-skeletal anomalies Constitutional neutropenia Hepatic veno-occlusive disease-immunodeficiency syndrome Immune dysregulation disease with immunodeficiency Nijmegen breakage syndrome Combined immunodeficiency due to ORAI1 deficiency Transient hypogammaglobulinemia of infancy T-B+ severe combined immunodeficiency due to CD45 deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Properdin deficiency Combined immunodeficiency due to CARD11 deficiency Hyper-IgM syndrome without susceptibility to opportunistic infections Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency Pearson syndrome Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Immunodeficiency by defective expression of MHC class I ICF syndrome