SE-ATLAS

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Hyperzincemia and hypercalprotectinemia Recurrent infection due to specific granule deficiency Pearson syndrome Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Immunodeficiency due to a classical component pathway complement deficiency Herpes simplex virus encephalitis Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Nakajo-Nishimura syndrome Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to a late component of complement deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Epidermodysplasia verruciformis Muckle-Wells syndrome Chédiak-Higashi syndrome Constitutional neutropenia with extra-hematopoietic manifestations Immunodeficiency due to ficolin3 deficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Other immunodeficiency syndromes due to defects in innate immunity Granulomatous autoinflammatory syndrome X-linked severe congenital neutropenia X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency Hereditary periodic fever syndrome X-linked mendelian susceptibility to mycobacterial diseases Relapsing polychondritis Kostmann syndrome NLRP12-associated hereditary periodic fever syndrome Severe congenital neutropenia Pyogenic autoinflammatory syndrome 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 Suszeptibilität für Mykobakteriosen durch kompletten IL12B-Defekt Kälte-Urtikaria, familiäre Shwachman-Diamond-Syndrom Suszeptibilität für Bakterieninfektion durch TLR Signalweg-Defizienz Myeloperoxidase-Mangel Papillon-Lefèvre-Syndrom Systemische Sklerose, kutane limitierte CREST-Syndrom Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch partiellen IFN-gamma-R1-Defekt Systemische Sklerose, limitierte Systemische Sklerodermie Empfänglichkeit für virale und mykobakterielle Infektionen durch STAT1-Defizienz Suszeptibilität für Mykobakteriosen durch kompletten ISG15-Defekt Primäres Immundefekt-Syndrom durch LAMTOR2-Defizienz Leukozytenadhäsionsdefekt Typ III Leukozytenadhäsionsdefekt Typ II Leukozytenadhäsionsdefekt Typ I Lungenfibrose - Immundefekt - Gonadendysgenesie DITRA Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch partiellen IFN-gamma-R2-Defekt