Immunodeficiency 76 (IMD76)

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OMIM® 57 619164

OMIM Phenotypic Series 57 PS300755

OMIM® : ⁵⁷ Immunodeficiency-76 (IMD76) is an autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood (summary by Lyszkiewicz et al., 2020). (619164) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 76, is also known as imd76. An important gene associated with Immunodeficiency 76 is FCHO1 (FCH And Mu Domain Containing Endocytic Adaptor 1). Affiliated tissues include bone marrow and t cells.

Clinical features from OMIM®:

619164 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 76

Search GEO for disease gene expression data for Immunodeficiency 76.