Novel Mutation in the Class II Transactivator Associated with Immunodeficiency and Autoimmunity
Major histocompatibility complex (MHC) Class II deficiency is a rare primary immunodeficiency resulting in severely impaired cellular and humoral immunity . Here, we report the case of a 14-year old Hispanic female with a novel mutation in the CIITA gene. She presented at 6 months of age with pneumonia due to Pneumocystis jiroveci. She had a notable family history of consanguinity and an older sibling that died in infancy from pneumonia.
Serial laboratory values relevant to the patient’s immunologic evaluation at 6 months, 9 years,and 14 years of age. All assays were performed through...
KeywordsMajor Histocompatibility Complex Hematopoietic Stem Cell Transplantation Major Histocompatibility Complex Class Primary Immunodeficiency Renal Tubular Acidosis
- 1.Reith W, Picard C, Fischer A. Molecular basis of major histocompatibility complex class II deficiency. In: Ochs H, Smith E, Puck J, editors. Primary immunodeficiency diseases A molecular and genetic approach. 2nd ed. New York: Oxford University Press; 2014. p. 241–57.Google Scholar