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 Lymphocytopénie CD4 idiopathique Syndrome CINCA Syndrome PFAPA Syndrome périodique associé au récepteur 1 du facteur de nécrose tumorale Maladie d'Erdheim-Chester Syndrome de neutropenie congénitale-myélofibrose-néphromégalie Poïkilodermie avec neutropénie Neutropénie cyclique Maladie systémique ou rhumatologique rare Pyoderma gangrenosum Déficit fonctionnel des neutrophiles Déficit immunitaire à cellules T avec épidermodysplasie verruciforme Syndrome de Griscelli type 2 Syndrome auto-inflammatoire lié au protéasome Syndrome de Hermansky-Pudlak par déficit en AP-3 Syndrome de neutropénie-monocytopénie-surdité Syndrome de Majeed Syndrome auto-inflammatoire Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit complet Déficit en properdine Déficit immunitaire primaire par défaut de l'immunité innée Déficit immunitaire primaire avec déficit en cellules NK et insuffisance surrénale 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