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.

Automated summary

This report describes the first case of major histocompatibility complex type I deficiency in a child of black African descent. The patient, a three-year-old Ethiopian boy, presented with recurrent sinopulmonary infections. Genetic analysis confirmed autosomal recessive inheritance. The report also provides a summary of the epidemiology, presentation, diagnosis, and management principles of this disorder.