immunodeficiency 76
IMD76
exact
combined immunodeficiency due to FCHO1 deficiency
exact
immunodeficiency 76
exact
immunodeficiency due to FCHO1 deficiency
exact
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.
MONDO:0021094
immunodeficiency disease
is_a
SPBC4C3.06