SE-ATLAS

Syndrome de déficit immunitaire et hypopigmentation Déficit immunitaire avec déficit d'isotype ou de chaînes légères et nombre normal de cellules B Fièvre méditerranéenne familiale Ostéomyélite stérile multifocale avec périostéite et pustulose Déficit immunitaire combiné T et B Petite taille par déficit isolé en hormone de croissance associé à une hypogammaglobulinémie liée à l'X Maladie auto-immune multisystémique syndromique par déficit en Itch Syndrome des pouces absents-petite taille-déficit immunitaire Pancytopénie par mutations de IKZF1 Déficit d'adhésion leucocytaire Agammaglobulinémie autosomique Agammaglobulinémie syndromique Déficit immunitaire primaire avec déficit en cellules NK et insuffisance surrénale Déficit immunitaire combiné sévère par déficit en FOXN1 Syndrome CINCA Dyskératose congénitale Syndrome de fièvre périodique avec hyperimmunoglobulinémie D Déficit immunitaire à cellules T avec épidermodysplasie verruciforme Déficit immunitaire combiné sévère type alymphocytosique Déficit immunitaire primaire par défaut de l'immunité innée Syndrome de Wiskott-Aldrich Prédisposition mendélienne liée à l'X aux infections mycobactériennes Maladie leucoproliférative auto-immune associée à RAS Infections récurrentes à Neisseria par déficit en facteur D Syndrome avec déficit immunitaire combiné Agammaglobulinémie Déficit immunitaire combiné sévère T-B+ par déficit en CD3delta/epsilon/zêta Syndrome de Lichtenstein Monocytopénie avec susceptibilité aux infections T-B+ severe combined immunodeficiency due to gamma chain deficiency Leukocyte adhesion deficiency type II X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Primary immunodeficiency syndrome due to LAMTOR2 deficiency PFAPA syndrome Common variable immunodeficiency Herpes simplex virus encephalitis Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Combined immunodeficiency due to MALT1 deficiency Selective IgM deficiency PLCG2-associated antibody deficiency and immune dysregulation Tumor necrosis factor receptor 1 associated periodic syndrome Constitutional neutropenia with extra-hematopoietic manifestations Chronic granulomatous disease Immunoglobulin heavy chain deficiency X-linked lymphoproliferative disease Severe combined immunodeficiency due to adenosine deaminase deficiency Chronic mucocutaneous candidiasis Leukocyte adhesion deficiency type I 22q11.2 deletion syndrome Cartilage-hair hypoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Immuno-osseous dysplasia Severe combined immunodeficiency due to DNA-PKcs deficiency Autoimmune lymphoproliferative syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Hyper-IgM syndrome type 2 Other immunodeficiency syndrome with predominantly antibody defects Rare immune disease Recurrent infections associated with rare immunoglobulin isotypes deficiency Immunodeficiency due to a late component of complement deficiency Other immunodeficiency syndromes due to defects in innate immunity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Cohen syndrome Combined immunodeficiency with granulomatosis Bloom syndrome Schimke immuno-osseous dysplasia Severe combined immunodeficiency due to IKK2 deficiency Autoinflammatory syndrome with immune deficiency Poikiloderma with neutropenia T-B- severe combined immunodeficiency X-linked hyper-IgM syndrome Immunodeficiency syndrome with autoimmunity Combined immunodeficiency due to IL21R deficiency Combined immunodeficiency due to CD3gamma deficiency Immunodeficiency due to CD25 deficiency Genetic susceptibility to infections due to particular pathogens Combined immunodeficiency due to CD27 deficiency Leukocyte adhesion deficiency type III Severe combined immunodeficiency due to CORO1A deficiency Complement component 3 deficiency Immunodeficiency due to a complement cascade protein anomaly Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Immunodeficiency with factor I anomaly Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Autoimmune lymphoproliferative syndrome with recurrent viral infections Cernunnos-XLF deficiency Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Immunodeficiency due to a classical component pathway complement deficiency Combined immunodeficiency due to ZAP70 deficiency Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Familial cold urticaria Neutrophil immunodeficiency syndrome Deficiency in anterior pituitary function-variable immunodeficiency syndrome Reticular dysgenesis Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency TCR-alpha-beta-positive T-cell deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Idiopathic CD4 lymphocytopenia Hyper-IgM syndrome type 3 Combined immunodeficiency due to partial RAG1 deficiency Autosomal dominant severe congenital neutropenia NLRP3-associated autoinflammatory disease Barth syndrome LIG4 syndrome T-B+ severe combined immunodeficiency due to JAK3 deficiency Laron syndrome with immunodeficiency Immunodeficiency predominantly affecting antibody production Osteopetrosis-hypogammaglobulinemia syndrome Autoimmune polyendocrinopathy type 1 Primary hemophagocytic lymphohistiocytosis Hyper-IgE syndrome Severe combined immunodeficiency due to complete RAG1/2 deficiency Cyclic neutropenia Nijmegen breakage syndrome-like disorder Hyper-IgM syndrome with susceptibility to opportunistic infections Primary immunodeficiency Immunodeficiency by defective expression of MHC class II Immunodeficiency due to selective anti-polysaccharide antibody deficiency Dianzani autoimmune lymphoproliferative disease Vici syndrome Shwachman-Diamond syndrome Combined immunodeficiency due to STIM1 deficiency Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Purine nucleoside phosphorylase deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Lymphoproliferative syndrome Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Severe dermatitis-multiple allergies-metabolic wasting syndrome Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome X-linked severe congenital neutropenia Immunodeficiency due to ficolin3 deficiency Ataxia-telangiectasia-like disorder Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Functional neutrophil defect Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency PAPA syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Familial hemophagocytic lymphohistiocytosis Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency T-B+ severe combined immunodeficiency Familial isolated congenital asplenia WHIM syndrome Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Severe combined immunodeficiency Say-Barber-Miller syndrome T+ B+ severe combined immunodeficiency Kostmann syndrome Primary immunodeficiency due to a defect in adaptive immunity Epidermodysplasia verruciformis Immunodeficiency with factor H anomaly Muckle-Wells syndrome Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Myeloperoxidase deficiency Combined immunodeficiency due to STK4 deficiency Bacterial susceptibility due to TLR signaling pathway deficiency Susceptibility to infection due to TYK2 deficiency Susceptibility to respiratory infections associated with CD8alpha chain mutation X-linked agammaglobulinemia Hermansky-Pudlak syndrome due to AP-3 deficiency Activated PI3K-delta syndrome Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Papillon-Lefèvre syndrome Griscelli syndrome type 2 Neutropenia-monocytopenia-deafness syndrome Blau syndrome Chédiak-Higashi syndrome Hypohidrotic ectodermal dysplasia with immunodeficiency X-linked immunoneurologic disorder Hyperzincemia and hypercalprotectinemia Spondyloenchondrodysplasia Roifman syndrome Severe congenital neutropenia Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency DNA repair defect other than combined T-cell and B-cell immunodeficiencies Isolated agammaglobulinemia Combined immunodeficiency due to CRAC channel dysfunction Short-limb skeletal dysplasia with severe combined immunodeficiency Recurrent infection due to specific granule deficiency Hoyeraal-Hreidarsson syndrome Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Ataxia-telangiectasia Immunodeficiency due to absence of thymus Mendelian susceptibility to mycobacterial diseases Congenital neutropenia-myelofibrosis-nephromegaly syndrome Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Majeed syndrome Combined immunodeficiency due to DOCK8 deficiency FADD-related immunodeficiency Omenn syndrome Immunodeficiency due to MASP-2 deficiency T-cell immunodeficiency with thymic aplasia Severe combined immunodeficiency due to LCK deficiency Combined immunodeficiency with facio-oculo-skeletal anomalies Constitutional neutropenia Hepatic veno-occlusive disease-immunodeficiency syndrome Immune dysregulation disease with immunodeficiency Nijmegen breakage syndrome Combined immunodeficiency due to ORAI1 deficiency Transient hypogammaglobulinemia of infancy T-B+ severe combined immunodeficiency due to CD45 deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Properdin deficiency Combined immunodeficiency due to CARD11 deficiency Hyper-IgM syndrome without susceptibility to opportunistic infections Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency Pearson syndrome Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Immunodeficiency by defective expression of MHC class I ICF syndrome