SE-ATLAS

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Hemophagocytic syndrome Poikiloderma with neutropenia Recurrent infections associated with rare immunoglobulin isotypes deficiency Tumor necrosis factor receptor 1 associated periodic syndrome Idiopathic CD4 lymphocytopenia Cernunnos-XLF deficiency Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies Congenital neutropenia-myelofibrosis-nephromegaly syndrome Hermansky-Pudlak syndrome due to AP-3 deficiency Combined immunodeficiency due to ZAP70 deficiency Twin to twin transfusion syndrome Immunodeficiency predominantly affecting antibody production Cyclic neutropenia Combined immunodeficiency due to CD3gamma deficiency Susceptibility to respiratory infections associated with CD8alpha chain mutation Immunodeficiency syndrome with autoimmunity Immunodeficiency syndrome with hypopigmentation Pancytopenia due to IKZF1 mutations Adult idiopathic neutropenia T-cell immunodeficiency with epidermodysplasia verruciformis Combined immunodeficiency due to CD27 deficiency Severe combined immunodeficiency due to CORO1A deficiency Secondary hemophagocytic lymphohistiocytosis Immune dysregulation disease with immunodeficiency Griscelli syndrome type 2 Neutropenia-monocytopenia-deafness syndrome Primary hemophagocytic lymphohistiocytosis Ataxia-telangiectasia Lymphoproliferative syndrome Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Functional neutrophil defect Majeed syndrome Constitutional neutropenia RAS-associated autoimmune leukoproliferative disease Nijmegen breakage syndrome Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Severe dermatitis-multiple allergies-metabolic wasting syndrome Properdin deficiency Monocytopenia with susceptibility to infections Combined immunodeficiency due to CRAC channel dysfunction Autosomal agammaglobulinemia Leukocyte adhesion deficiency Primary immunodeficiency due to a defect in innate immunity Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency NLRP3-associated autoinflammatory disease Chronic mucocutaneous candidiasis Chronic granulomatous disease Severe combined immunodeficiency due to FOXN1 deficiency Combined immunodeficiency due to partial RAG1 deficiency Hemophagocytic syndrome associated with an infection Immunodeficiency due to a complement cascade protein anomaly Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Barth syndrome LIG4 syndrome PAPA syndrome Primary immunodeficiency Immunodeficiency due to CD25 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Good syndrome Combined immunodeficiency due to IL21R deficiency X-linked immunoneurologic disorder Short-limb skeletal dysplasia with severe combined immunodeficiency Complement component 3 deficiency Acquired hemophagocytic lymphohistiocytosis associated with malignant disease Ataxia-telangiectasia-like disorder Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Immunoglobulin heavy chain deficiency Graft versus host disease Combined immunodeficiency due to DOCK8 deficiency Macrophage activation syndrome X-linked lymphoproliferative disease Autoimmune lymphoproliferative syndrome Osteopetrosis-hypogammaglobulinemia syndrome Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Bloom syndrome Neutrophil immunodeficiency syndrome Familial cold urticaria Severe combined immunodeficiency due to LCK deficiency T-cell large granular lymphocyte leukemia Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Bacterial susceptibility due to TLR signaling pathway deficiency Shwachman-Diamond syndrome Genetic susceptibility to infections due to particular pathogens Vici syndrome Familial hemophagocytic lymphohistiocytosis Say-Barber-Miller syndrome Myeloperoxidase deficiency Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Papillon-Lefèvre syndrome T-cell immunodeficiency with thymic aplasia Dyskeratosis congenita Severe combined immunodeficiency due to DCLRE1C deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency Leukocyte adhesion deficiency type II Primary immunodeficiency syndrome due to LAMTOR2 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Severe combined immunodeficiency due to adenosine deaminase deficiency Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type III Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autoimmune lymphoproliferative syndrome with recurrent viral infections Felty syndrome Anti-HLA hyperimmunization Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Transient hypogammaglobulinemia of infancy Familial isolated congenital asplenia Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Hepatic veno-occlusive disease-immunodeficiency syndrome Dianzani autoimmune lymphoproliferative disease Pearson syndrome Hyperzincemia and hypercalprotectinemia Recurrent infection due to specific granule deficiency Activated PI3K-delta syndrome X-linked hyper-IgM syndrome PLCG2-associated antibody deficiency and immune dysregulation Herpes simplex virus encephalitis Constitutional neutropenia with extra-hematopoietic manifestations Hyper-IgM syndrome type 3 Combined immunodeficiency due to CARD11 deficiency Immunodeficiency due to a classical component pathway complement deficiency Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 5 T-B+ severe combined immunodeficiency due to JAK3 deficiency Hyper-IgM syndrome type 4 Immunodeficiency by defective expression of MHC class II Immunodeficiency due to a late component of complement deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency T-B+ severe combined immunodeficiency Muckle-Wells syndrome T-B+ severe combined immunodeficiency due to CD45 deficiency Epidermodysplasia verruciformis Other immunodeficiency syndromes due to defects in innate immunity Chédiak-Higashi syndrome Combined immunodeficiency due to STK4 deficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Nijmegen breakage syndrome-like disorder T-B- severe combined immunodeficiency Omenn syndrome Syndromic agammaglobulinemia Immunodeficiency due to MASP-2 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Isolated agammaglobulinemia T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta Acquired immunodeficiency Immunodeficiency due to ficolin3 deficiency Cartilage-hair hypoplasia Severe combined immunodeficiency due to DNA-PKcs deficiency Combined immunodeficiency due to ORAI1 deficiency Roifman syndrome Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome X-linked severe congenital neutropenia Autoimmune polyendocrinopathy type 1 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells X-linked mendelian susceptibility to mycobacterial diseases Kostmann syndrome X-linked agammaglobulinemia Severe congenital neutropenia Combined immunodeficiency with facio-oculo-skeletal anomalies Blau syndrome Hoyeraal-Hreidarsson syndrome Autoinflammatory syndrome with immune deficiency Combined immunodeficiency due to STIM1 deficiency Prédisposition mendélienne aux infections mycobactériennes liée à l'X par déficit en IKBKG Neutropénie acquise Déficit immunitaire combiné sévère par déficit complet en RAG1/2 Syndrome avec déficit immunitaire combiné Syndrome de Laron avec déficit immunitaire Syndrome de Cohen Dysplasie immuno-osseuse de Schimke Déficit immunitaire par absence de thymus Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IFNgammaR1 Déficit immunitaire associé à une anomalie du facteur H Syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable Déficit immunitaire primaire par défaut de l'immunité adaptative Prédisposition mendélienne aux infections mycobactériennes liée à l'X par déficit en CYBB Déficit immunitaire associé à une anomalie du facteur I Susceptibilité aux infections par déficit en TYK2 Neutrophilie héréditaire Prédisposition mendélienne aux infections mycobactériennes Dysplasie ectodermique hypohidrotique avec déficit immunitaire Fièvre méditerranéenne familiale Syndrome hyper-IgE Syndrome de fièvre périodique avec hyperimmunoglobulinémie D Infections récurrentes à Neisseria par déficit en facteur D Déficit immunitaire commun variable Syndrome de Lichtenstein Déficit sélectif en IgM Ostéomyélite stérile multifocale avec périostéite et pustulose Maladie immunologique rare Dysgénésie réticulaire Déficit immunitaire lié à FADD Syndrome de dysplasie ectodermique anhidrotique-déficit immunitaire-ostéopétrose-lymphoedème Neutropénie congénitale sévère autosomique dominante Déficit en purine nucléoside phosphorylase Déficit immunitaire avec déficit d'isotype ou de chaînes légères et nombre normal de cellules B Déficit immunitaire par déficit en IRAK4 Déficit immunitaire combiné sévère Déficit immunitaire par déficit sélectif en anticorps anti-polysaccharide Maladie aiguë du greffon contre l'hôte Syndrome de dérèglement immunitaire-polyendocrinopathie-entéropathie lié à l'X Syndrome WHIM Autre syndrome de déficit immunitaire par déficit de production d'anticorps Syndrome hyper-IgM sans susceptibilité aux infections opportunistes Dysplasie spondylo-enchondrale Syndrome hyper-IgM avec susceptibilité aux infections opportunistes Maladie chronique du greffon contre l'hôte Déficit immunitaire par déficit d'expression des molécules CMH de classe I Agammaglobulinémie Syndrome ICF Dysplasie immuno-osseuse Petite taille par déficit isolé en hormone de croissance associé à une hypogammaglobulinémie liée à l'X Déficit immunitaire combiné T et B Anomalie de réparation de l'ADN autre qu'un déficit immunitaire combiné à cellules B et T Syndrome des pouces absents-petite taille-déficit immunitaire Syndrome CINCA Déficit immunitaire avec diminution sévère des IgG et IgA et taux normal ou élevé d'IgM avec nombre normal de cellules B Syndrome PFAPA Syndrome de Wiskott-Aldrich Syndrome de délétion 22q11.2 Déficit immunitaire combiné avec granulomatose