Immunodeficiency 63 with Lymphoproliferation and Autoimmunity (IMD63)

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Disease Ontology 12 DOID:0111997 OMIM® 57 618495 OMIM Phenotypic Series 57 PS300755 MeSH 44 D007153

MedGen 41 C5193126 CN260600 SNOMED-CT via HPO 68 127388009 129646001 16294009 197927001 234532001 258211005 267060006 276369006 30746006 36440009 413603009 432788009 62315008 80515008 85919009 more UMLS 71 C5193126

OMIM® : ⁵⁷ Immunodeficiency-63 with lymphoproliferation and autoimmunity (IMD63) is an autosomal recessive disorder characterized by immune dysregulation. Affected individuals present in infancy with features of both abnormal activation of certain immune signaling pathways, resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia, as well as features of immunodeficiency, such as recurrent infections and increased susceptibility to viral infections, especially CMV. Laboratory studies show increased NK cells that show impaired differentiation, as well as abnormal T cell populations or responses. Some patients may die in childhood; hematopoietic bone marrow transplantation is curative (summary by Zhang et al., 2019). (618495) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 63 with Lymphoproliferation and Autoimmunity, also known as il2rb deficiency, is related to rheumatoid factor-negative polyarticular juvenile idiopathic arthritis and oligoarticular juvenile idiopathic arthritis. An important gene associated with Immunodeficiency 63 with Lymphoproliferation and Autoimmunity is IL2RB (Interleukin 2 Receptor Subunit Beta), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include nk cells, bone marrow and t cells, and related phenotypes are decreased fetal movement and failure to thrive

Disease Ontology : ¹² A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has material basis in homozygous or compound heterozygous mutation in IL2RB on chromosome 22q12.3.

UniProtKB/Swiss-Prot : ⁷³ Immunodeficiency 63 with lymphoproliferation and autoimmunity: An autosomal recessive disorder characterized by immune dysregulation resulting in lymphoid proliferation, dermatitis, enteropathy, autoantibodies, hypergammaglobulinemia, and immunodeficiency with recurrent infections. Patients show increased susceptibility to viral infections, particularly cytomegalovirus disease.

Clinical features from OMIM®:

618495 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

Search GEO for disease gene expression data for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity.