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