SE-ATLAS

Good syndrome Acquired hemophagocytic lymphohistiocytosis associated with malignant disease Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Sarcoidosis X-linked immunoneurologic disorder CANDLE syndrome Ataxia-telangiectasia-like disorder Short-limb skeletal dysplasia with severe combined immunodeficiency Behçet disease Combined immunodeficiency due to IL21R deficiency Macrophage activation syndrome Anti-neutrophil cytoplasmic antibody-associated vasculitis JMP syndrome Immunoglobulin heavy chain deficiency Pediatric Castleman disease Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Combined immunodeficiency due to DOCK8 deficiency Neutrophil immunodeficiency syndrome Graft versus host disease Osteopetrosis-hypogammaglobulinemia syndrome X-linked lymphoproliferative disease Autoimmune lymphoproliferative syndrome Giant cell arteritis Bloom syndrome Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Pediatric systemic lupus erythematosus Complement component 3 deficiency T-cell large granular lymphocyte leukemia Mixed cryoglobulinemia type III Familial cold urticaria Mixed connective tissue disease Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Mixed cryoglobulinemia type II Vici syndrome Shwachman-Diamond syndrome Genetic susceptibility to infections due to particular pathogens Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Familial hemophagocytic lymphohistiocytosis Hypocomplementemic urticarial vasculitis Say-Barber-Miller syndrome Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Myeloperoxidase deficiency Papillon-Lefèvre syndrome Bacterial susceptibility due to TLR signaling pathway deficiency T-cell immunodeficiency with thymic aplasia Severe combined immunodeficiency due to LCK deficiency CREST syndrome Hajdu-Cheney syndrome Dyskeratosis congenita Severe combined immunodeficiency due to DCLRE1C deficiency Autoimmune lymphoproliferative syndrome with recurrent viral infections Juvenile polymyositis Leukocyte adhesion deficiency type I T-B+ severe combined immunodeficiency due to gamma chain deficiency Severe combined immunodeficiency due to adenosine deaminase deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Leukocyte adhesion deficiency type III Primary immunodeficiency syndrome due to LAMTOR2 deficiency Leukocyte adhesion deficiency type II Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Combined immunodeficiency with granulomatosis Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Transient hypogammaglobulinemia of infancy Felty syndrome Anti-HLA hyperimmunization Familial isolated congenital asplenia Kawasaki disease Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Activated PI3K-delta syndrome Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Takayasu arteritis Autoinflammatory syndrome of childhood Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Postinfectious vasculitis Hepatic veno-occlusive disease-immunodeficiency syndrome Hyperzincemia and hypercalprotectinemia Dianzani autoimmune lymphoproliferative disease Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Pearson syndrome Recurrent infection due to specific granule deficiency Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies Reactive arthritis Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies Immunodeficiency due to a classical component pathway complement deficiency Herpes simplex virus encephalitis PLCG2-associated antibody deficiency and immune dysregulation 22q11.2 deletion syndrome Hyper-IgM syndrome type 2 Constitutional neutropenia with extra-hematopoietic manifestations X-linked hyper-IgM syndrome Nakajo-Nishimura syndrome Hyper-IgM syndrome type 4 T-B+ severe combined immunodeficiency due to JAK3 deficiency Hyper-IgM syndrome type 3 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Immunodeficiency by defective expression of MHC class II Immunodeficiency due to a late component of complement deficiency Hyper-IgM syndrome type 5 Eosinophilic fasciitis Acquired immunodeficiency Oligoarticular juvenile idiopathic arthritis Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies T-B+ severe combined immunodeficiency due to CD45 deficiency Muckle-Wells syndrome Epidermodysplasia verruciformis Cryoglobulinemic vasculitis T-B+ severe combined immunodeficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Other immunodeficiency syndromes due to defects in innate immunity T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Combined immunodeficiency due to STK4 deficiency Syndrome de Chédiak-Higashi Syndrome de Nijmegen-like Arthrite juvénile idiopathique indéterminée Déficit immunitaire combiné sévère T-B+ par déficit en CD3delta/epsilon/zêta Syndrome d'Omenn Déficit immunitaire combiné par déficit en CARD11 Arthrite juvénile idiopathique systémique Déficit immunitaire par déficit en MASP-2 Agammaglobulinémie isolée Prédisposition mendélienne aux infections mycobactériennes par déficit partiel en STAT1 Déficit immunitaire par déficit en ficoline 3 Déficit immunitaire combiné sévère par déficit en DNA-PKcs Arthrite juvénile idiopathique sans facteur rhumatoïde sans anticorps anti-nucléaire Chondrodysplasie métaphysaire autosomique récessive Syndrome de Roifman Syndrome d'entéropathie et endocrinopathie auto-immunes-susceptibilité aux infections chroniques Arthrite juvénile idiopathique polyarticulaire Agammaglobulinémie syndromique Déficit immunitaire combiné sévère T-B- Polyendocrinopathie auto-immune type 1 Prédisposition mendélienne liée à l'X aux infections mycobactériennes Neutropénie sévère congénitale liée à l'X Syndrome de fièvre récurrente héréditaire Polyangéite microscopique Syndrome de Kostmann Déficit immunitaire combiné avec anomalies faciooculosquelettiques Polychondrite atrophiante Granulomatose éosinophilique avec polyangéite Agammaglobulinémie liée à l'X Syndrome de Blau Neutropénie congénitale sévère Déficit en anticorps spécifiques avec une quantité normale d'immunoglobuline et de cellules B Syndrome auto-inflammatoire avec déficit immunitaire Syndrome de Hoyeraal-Hreidarsson Syndrome de fièvre périodique héréditaire lié à NLRP12 Déficit immunitaire combiné par déficit en ORAI1 Déficit immunitaire combiné sévère par déficit complet en RAG1/2 Prédisposition mendélienne aux infections mycobactériennes liée à l'X par déficit en IKBKG Déficit immunitaire combiné par déficit en STIM1 Syndrome mixte auto-inflammatoire et auto-immun Neutropénie acquise Prédisposition mendélienne aux infections mycobactériennes liée à l'X par déficit en CYBB Maladie systémique ou rhumatologique rare de l'enfant Syndrome de Laron avec déficit immunitaire Syndrome auto-inflammatoire pyogène de l'enfant Arthrite juvénile idiopathique associée au psoriasis Syndrome avec déficit immunitaire combiné Arthrite juvénile idiopathique polyarticulaire avec facteur rhumatoïde Arthrite juvénile idiopathique associée aux enthésopathies Syndrome de Cohen Dysplasie immuno-osseuse de Schimke Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IFNgammaR1 Déficit immunitaire primaire par défaut de l'immunité adaptative Syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable Syndrome auto-inflammatoire-dérèglement avec déficit immunitaire lié à PLCG2 Syndrome de fièvre récurrente de l'enfant Déficit immunitaire associé à une anomalie du facteur I Susceptibilité aux infections par déficit en TYK2 Neutrophilie héréditaire Dysplasie ectodermique hypohidrotique avec déficit immunitaire Syndrome auto-inflammatoire non classé de l'enfant Déficit immunitaire associé à une anomalie du facteur H Prédisposition mendélienne aux infections mycobactériennes Infections récurrentes à Neisseria par déficit en facteur D Déficit immunitaire par absence de thymus Syndrome hyper-IgE Fièvre méditerranéenne familiale Syndrome auto-inflammatoire granulomateux de l'enfant Syndrome de fièvre périodique avec hyperimmunoglobulinémie D Péricardite récurrente idiopathique Syndrome de Lichtenstein Déficit immunitaire commun variable Fièvre récurrente inexpliquée de l'enfant Syndrome de dysplasie ectodermique anhidrotique-déficit immunitaire-ostéopétrose-lymphoedème Maladie de Gorham-Stout Déficit sélectif en IgM Ostéomyélite stérile multifocale avec périostéite et pustulose Panniculite infantile avec uvéite et granulomatose systémique FADD-related immunodeficiency Reticular dysgenesis Severe combined immunodeficiency Rare immune disease Autosomal dominant severe congenital neutropenia Immunodeficiency due to selective anti-polysaccharide antibody deficiency Purine nucleoside phosphorylase deficiency Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Immunoglobulin A vasculitis Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Rare pediatric vasculitis WHIM syndrome Granulomatosis with polyangiitis Other immunodeficiency syndrome with predominantly antibody defects Spondyloenchondrodysplasia Chronic graft versus host disease Overlapping connective tissue disease Hyper-IgM syndrome with susceptibility to opportunistic infections Acute graft versus host disease Idiopathic juvenile osteoporosis Agammaglobulinemia Immunodeficiency by defective expression of MHC class I Immuno-osseous dysplasia Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells ICF syndrome Hyper-IgM syndrome without susceptibility to opportunistic infections Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Absent thumb-short stature-immunodeficiency syndrome DNA repair defect other than combined T-cell and B-cell immunodeficiencies CINCA syndrome Cernunnos-XLF deficiency Wiskott-Aldrich syndrome PFAPA syndrome T-cell immunodeficiency with epidermodysplasia verruciformis X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Hemophagocytic syndrome Combined T and B cell immunodeficiency Idiopathic CD4 lymphocytopenia Proteasome-associated autoinflammatory syndrome Congenital neutropenia-myelofibrosis-nephromegaly syndrome Tumor necrosis factor receptor 1 associated periodic syndrome Twin to twin transfusion syndrome Juvenile idiopathic arthritis Unclassified vasculitis Combined immunodeficiency due to ZAP70 deficiency Rare pediatric systemic disease Immunodeficiency predominantly affecting antibody production Hermansky-Pudlak syndrome due to AP-3 deficiency Severe combined immunodeficiency due to CORO1A deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Pancytopenia due to IKZF1 mutations Combined immunodeficiency due to CD27 deficiency Cyclic neutropenia Poikiloderma with neutropenia Immunodeficiency syndrome with autoimmunity Immunodeficiency syndrome with hypopigmentation Drug-induced vasculitis Combined immunodeficiency due to CD3gamma deficiency Adult idiopathic neutropenia Griscelli syndrome type 2 Unexplained long-lasting fever/inflammatory syndrome Functional neutrophil defect Immune dysregulation disease with immunodeficiency Secondary hemophagocytic lymphohistiocytosis Majeed syndrome Neutropenia-monocytopenia-deafness syndrome Lymphoproliferative syndrome Primary hemophagocytic lymphohistiocytosis Susceptibility to respiratory infections associated with CD8alpha chain mutation Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Ataxia-telangiectasia Monocytopenia with susceptibility to infections Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies Nijmegen breakage syndrome Properdin deficiency Combined immunodeficiency due to CRAC channel dysfunction Autosomal agammaglobulinemia Primary immunodeficiency due to a defect in innate immunity Cogan syndrome Leukocyte adhesion deficiency Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Severe dermatitis-multiple allergies-metabolic wasting syndrome Constitutional neutropenia Hemophagocytic syndrome associated with an infection Combined immunodeficiency due to partial RAG1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Syndromic multisystem autoimmune disease due to Itch deficiency Sweet syndrome Chronic granulomatous disease NLRP3-associated autoinflammatory disease Chronic mucocutaneous candidiasis Severe combined immunodeficiency due to FOXN1 deficiency Immunodeficiency due to a complement cascade protein anomaly RAS-associated autoimmune leukoproliferative disease Juvenile dermatomyositis LIG4 syndrome Immunodeficiency due to CD25 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Barth syndrome Primary immunodeficiency PAPA syndrome