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 Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit partiel Maladie de Behçet Déficit en facteur C3 du complément Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IL12RB1 Syndrome de déficit immunitaire neutrophile Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IFNgammaR2 Sclérose systémique cutanée diffuse Syndrome CANDLE Prédisposition génétique aux infections à pathogènes particuliers Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IL12B Urticaire familiale au froid Syndrome de Shwachman-Diamond Susceptibilité bactérienne dépendante de la voie TLR Déficit en myéloperoxydase Syndrome de Papillon-Lefèvre Sclérose systémique cutanée limitée Syndrome CREST Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit partiel en IFNgammaR1 Sclérose systémique limitée Sclérodermie systémique Susceptibilité aux infections virales et mycobactériennes par déficit en STAT1 Prédisposition mendélienne aux infections mycobactériennes par déficit complet en ISG15 Syndrome de déficit immunitaire primaire par déficit en LAMTOR2 Déficit d'adhésion leucocytaire type III Déficit d'adhésion leucocytaire type II Déficit d'adhésion leucocytaire type I Syndrome de fibrose pulmonaire-déficit immunitaire-dysgénésie gonadique 46,XX DITRA Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit partiel en IFNgammaR2