Immunodeficiency 27A mycobacteriosis in a child: a case report

Abstract

Background:  Immunodeficiency 27A (IMD27A), linked to mycobacteriosis, is a rare genetic disorder caused by mutations in the Interferon gamma receptor 1 (IFNGR1) gene. It impairs the immune response, particularly the ability to combat mycobacterial infections. Affected children often experience recurrent, severe infections. Early diagnosis, genetic testing, and tailored therapies, including antimicrobials and immune-modulating treatments, are essential for managing the condition and improving outcomes.

Case presentation:  A 20-month-old girl born to consanguineous parents presented with fever and a history of three deceased siblings with similar symptoms post- Bacillus Calmette-Guérin (BCG) vaccination. Initial tests, including cultures, serology, and immunoglobulin studies, were inconclusive. Whole Exome Sequencing (WES) revealed immunodeficiency 27A (mycobacteriosis). Despite treatment with antibiotics, transfusions, and Intravenous Immunoglobulin (IVIG), she developed severe anemia, thrombocytopenia, and hepatosplenomegaly. Hypersplenism was suspected, and antifungal and anti-mycobacterial therapies were started. While awaiting human leukocyte antigen (HLA)-matched bone marrow transplantation, she succumbed suddenly, highlighting the severity of her condition.

Conclusion: The undiagnosed case of immunodeficiency 27A mycobacteriosis succumbed despite treatment, highlighting the disease's severity and diagnostic challenges.