SE-ATLAS

Glykogenose Typ 1b Hyperzinkämie und Hypercalprotectinämie Rekurrente Infektionen durch spezifischen Granulamangel Pearson-Syndrom Autosomal-dominante Suszeptibilität für Mykobakteriosen durch partiellen IFN-gamma-R1-Defekt Immundefekt durch klassischen Komponentenmangel des Komplementsystems Herpes-simplex-Enzephalitis Neutropenie, kongenitale schwere, autosomal-rezessive, durch G6PC3-Mangel Nakajo-Nishimura-Syndrom Immundefekt durch MASP-2-Mangel Immundefekt durch Komplementdefekt bei Störung einer späten Komponente Suszeptibilität für Mykobakteriosen durch partielle STAT1-Defizienz Autosomal-dominante Suszeptibilität für Mykobakteriosen durch partiellen IFN-gamma-R2-Defekt Epidermodysplasia verruciformis Muckle-Wells-Syndrom Chédiak-Higashi-Syndrom Konstitutionelle Neutropenie mit extrahämatopoetischen Manifestationen Immundefekt durch Ficolin-3-Mangel Suszeptibilität für Mykobakteriosen durch partiellen IRF8-Defekt Sonstiges Immundefekt-Syndrom durch Störung der adaptiven Immunität Autoinflammatorisches Syndrom, granulomatöses Neutropenie, kongenitale schwere, X-chromosomale X-chromosomale Suszeptibilität für Mykobakteriosen durch IKBKG-Defekt Hereditäres periodisches Fiebersyndrom Suszeptibilität für Mykobakteriosen, X-chromosomal Polychondritis, rezidivierende Kostmann-Syndrom NLRP12-assoziiertes hereditäres Periodisches Fiebersyndrom Neutropenie, kongenitale schwere Autoinflammatorisches Syndrom, pyogenes Autoinflammatory syndrome with immune deficiency Blau syndrome PASH syndrome Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Mixed autoinflammatory and autoimmune syndrome Unclassified autoinflammatory syndrome Cohen syndrome Immunodeficiency with factor I anomaly Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Rare systemic or rheumatological disease of childhood X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Immunodeficiency with factor H anomaly Mendelian susceptibility to mycobacterial diseases Hypohidrotic ectodermal dysplasia with immunodeficiency Recurrent Neisseria infections due to factor D deficiency Familial Mediterranean fever Hyperimmunoglobulinemia D with periodic fever Lichtenstein syndrome Sterile multifocal osteomyelitis with periostitis and pustulosis Infantile onset panniculitis with uveitis and systemic granulomatosis Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Generalized pustular psoriasis Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Autosomal dominant severe congenital neutropenia Idiopathic recurrent pericarditis Unexplained periodic fever syndrome WHIM syndrome MAGIC syndrome Idiopathic CD4 lymphocytopenia CINCA syndrome PFAPA syndrome Tumor necrosis factor receptor 1 associated periodic syndrome Erdheim-Chester disease Congenital neutropenia-myelofibrosis-nephromegaly syndrome Poikiloderma with neutropenia Cyclic neutropenia Rare systemic or rheumatologic disease Pyoderma gangrenosum Functional neutrophil defect T-cell immunodeficiency with epidermodysplasia verruciformis Griscelli syndrome type 2 Proteasome-associated autoinflammatory syndrome Hermansky-Pudlak syndrome due to AP-3 deficiency Neutropenia-monocytopenia-deafness syndrome Majeed syndrome Autoinflammatory syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Properdin deficiency Primary immunodeficiency due to a defect in innate immunity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Constitutional neutropenia Leukocyte adhesion deficiency Schnitzler syndrome NLRP3-associated autoinflammatory disease Immunodeficiency due to a complement cascade protein anomaly Chronic granulomatous disease Chronic mucocutaneous candidiasis Monocytopenia with susceptibility to infections JMP syndrome SAPHO syndrome PAPA syndrome Barth syndrome Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Periodic fever syndrome Sarcoidosis Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Behçet disease Complement component 3 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Neutrophil immunodeficiency syndrome Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Diffuse cutaneous systemic sclerosis CANDLE syndrome Genetic susceptibility to infections due to particular pathogens Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Familial cold urticaria Shwachman-Diamond syndrome Bacterial susceptibility due to TLR signaling pathway deficiency Myeloperoxidase deficiency Papillon-Lefèvre syndrome Limited cutaneous systemic sclerosis CREST syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Limited systemic sclerosis Systemic sclerosis Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Primary immunodeficiency syndrome due to LAMTOR2 deficiency Leukocyte adhesion deficiency type III Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type I Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome DITRA Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency