Recurrent Infections in an Ethiopian Boy with Autosomal Recessive Major Histocompatibility Complex Type I Deficiency: a Case Report on a Very Rare Primary Immunodeficiency Disorder and a Review of Principles in Evaluation and Management.

Little is known about major histocompatibility complex type I deficiency, a rare form of primary immunodeficiency. This report describes the presentation of a three-year-old Ethiopian boy with recurrent sinopulmonary infections and genetic analysis showing him having autosomal recessive major histocompatibility complex type I deficiency-the first such report in a child of black African descent-and follows it with a summary of existing literature on the epidemiology, presentation, and diagnosis as well as principles of management of this disorder.

Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN- R1) Defect: A Clinical Diagnostic and Treatment Challenge.

Background: Mendelian susceptibility to mycobacterial diseases (MSMD) is an inborn error of immunity categorized as defects in intrinsic and innate immunity. MSMD is characterized by vulnerability to less virulent mycobacteria, such as Calmette-Guérin (BCG) vaccine strains, as well as environmental mycobacteria (EM). The definitive diagnosis is made by genetic analysis.