severe combined immunodeficiency 105

info · Genetic

A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31.

Signs and symptoms

Decreased total T cell count
Decreased circulating IgM concentration
Decreased circulating immunoglobulin concentration
Absence of lymph node germinal center
Impaired phytohemagglutinin-induced T lymphocyte transformation
B-cell lymphoma
Decreased total lymphocyte count
Fever
Skin rash
Hepatosplenomegaly