A 25 year old female was diagnosed of CVID in 2006 (at age of 18) with initial presentation of recurrent episodes of bacterial sinusitis and outbreaks of genital herpes. Laboratory work revealed hypogammaglobulinemia with poor antibody responses to both polysaccharide and protein antigens. She was found to have IL-2-Inducible T-cell kinase (ITK) mutation, which is potentially involved in the pathogenesis of her CVID. She was started on IVIG and has been receiving it every month.
The patient has additional history of type 1 diabetes diagnosed at 18 months of age, for which she has been depending on insulin, as well as immune thrombocytopenia purpura (ITP) diagnosed at age of 11. She had multiple episodes of recurrent thrombocytopenia managed with IVIG and corticosteroids. In 2002, at the age of 14, she was hospitalized with a presentation of fever and pain, and found to have lymphadenopathy, lymphopenia, neutropenia, and thrombocytopenia. An extensive infectious workup was negative. She had bone marrow biopsy, which was unremarkable with the exception of findings consistent with cytopenias. She ultimately underwent a splenectomy and lymph node resection in 2002. Lymph node and spleen pathology revealed noncaseating granuloma. After the splenectomy, her fevers and pain resolved. Her blood counts have remained relatively normal since splenectomy.