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Unmasking MHC Class II Deficiency: A Novel Mutation in a Child with Pediatric ARDS due to Pneumocystis Jirovecii
Aswanth Ks1, Diptirekha Satapathy1, Thirunavukkarasu Arun Babu1
1All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh, India.
Insights
A rare genetic disorder, major histocompatibility complex class II deficiency, was diagnosed in an infant with severe Pneumocystis pneumonia. This case highlights a novel RFXANK mutation and survival following a critical illness.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Consanguineous couples have an increased risk of recessive genetic disorders.
- Severe Pneumocystis jirovecii pneumonia in infants can indicate underlying immunodeficiency.
- Major histocompatibility complex (MHC) class II deficiency is a rare primary immunodeficiency.
Abstract:
An 8-month-old boy, the first child of a fourth-degree consanguineous couple with an uneventful past medical history, presented with fever and respiratory distress. He was intubated and managed with high-frequency ventilation. Chest radiography revealed bilateral white-out lungs, and his oxygenation index was 31. Pneumocystis jirovecii was identified through polymerase chain reaction of respiratory secretions. The child was treated with cotrimoxazole and systemic steroids. Due to the severity of the infection caused by an atypical organism, an underlying immunodeficiency was suspected. Genetic analysis revealed a novel homozygous mutation in the RFXANK gene, consistent with major histocompatibility complex class II deficiency. This case represents a rare inborn error of immunity with survival following a severe infection.
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