Immunodeficiency 63 with Lymphoproliferation and Autoimmunity (IMD63)

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OMIM 57 618495 PS300755

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)

MalaCards based summary : Immunodeficiency 63 with Lymphoproliferation and Autoimmunity, is also known as interleukin 2 receptor, beta, deficiency of. An important gene associated with Immunodeficiency 63 with Lymphoproliferation and Autoimmunity is IL2RB (Interleukin 2 Receptor Subunit Beta). Affiliated tissues include t cells, nk cells and bone.

Clinical features from OMIM:

618495

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.