BARE LYMPHOCYTIC SYNDROME TYPE I DUE TO TAP2 MUTATION IN AN 18-YEAR-OLD MALE- A CASE REPORT

Abstract

Bare lymphocyte syndrome type I (BLS I) is a rare autosomal recessive primary immunodeficiency caused by defective major histocompatibility complex class I expression due to abnormalities in antigen-processing pathways. We report an 18-year-old male with recurrent respiratory infections, bilateral bronchiectasis, vasculitic skin ulcers, severe malnutrition, and neurological manifestations, including previous varicella zoster encephalopathy. Whole exome sequencing identified a homozygous TAP2 splice-site mutation (c.1272+1del), confirming BLS I. The patient was managed with antimicrobial therapy, nutritional rehabilitation, and supportive care. This case highlights the importance of considering underlying primary immunodeficiency disorders in patients presenting with recurrent respiratory infections and multisystem inflammatory manifestations.