Комбінований імунодефіцит, зумовлений дефіцитом FCHO1

Визначення(English summary)

A rare combined T and B cell immunodeficiency characterized by early-onset of recurrent severe bacterial, viral, and fungal infections. Many patients present failure to thrive. Occurrence of lymphoma, as well as neurologic features, have been reported in some cases. Laboratory examination shows decreased CD4+ T cells and variable B cell lymphopenia and hypogammaglobulinemia.