Abstract
Deficiency in HLA class II expression is an uncommon autosomal recessive immune deficiency associated with mutations in genes that regulate major histocompatibility complex class II (MHC II) expression. Despite being diagnosed during adolescence, our case is distinguished by a delayed diagnosis and a weak clinical presentation. We describe the medical history of a 16-year-old child who has been treated intermittently for constipation and meningitis since early childhood. The child also experienced alternating episodes of diarrhea and constipation. As a result of a bacterial exacerbation of diffuse bronchiectasis, the patient was hospitalized. Deficient expression of HLA class II molecules was confirmed by immune assessments. Favorable clinical development was achieved by starting antibiotic medication in conjunction with nutritional control. Bone marrow transplantation is the sole curative treatment available for this real-life Maghrebian illness.
Published Version
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