Immunopathology · NEET PG Preparation Pathology
A 10-month-old infant presents with recurrent viral, fungal, and protozoal infections, persistent thrush, and severe diaper dermatitis. Chest X-ray r…
Practice question from Immunopathology (NEET PG Preparation Pathology), with the correct answer and a step-by-step solution.
medium · MCQ · Q-76BB20
A 10-month-old infant presents with recurrent viral, fungal, and protozoal infections, persistent thrush, and severe diaper dermatitis. Chest X-ray reveals the absence of a thymic shadow. Laboratory tests show very low T-cell counts and impaired T-cell proliferative responses, while B-cell numbers may be normal or increased (though non-functional). This condition is most frequently caused by an X-linked mutation in which gene?
- A.ADA
- B.IL2RGCorrect answer
- C.RAG1/RAG2
- D.ATM
Solution
X-linked Severe Combined Immunodeficiency (SCID) is most commonly caused by mutations in the IL2RG gene, which encodes the common gamma chain shared by receptors for IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21, critical for T and NK cell development.
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