Immunodeficiency 76

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.

Also known as: IMD76, combined immunodeficiency due to FCHO1 deficiency, immunodeficiency 76, immunodeficiency due to FCHO1 deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with Immunodeficiency 76 itself.