Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
Definition
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.
Also known as IMD99, immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias — per MONDO