immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
IMD99
exact
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
exact
An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment.
MONDO:0021094
immunodeficiency disease
is_a
SPAC1952.06c