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Article

Type 2 hyper-IgM syndrome with a rare variant of AICDA gene mutation in a young woman.

BMJ case reports - 17 Mar 2023

Prakash Prithivi Raaj, Gupta Gaurav, Aggarwal Mukul, Baitha Upendra

Abstract excerpt

We report the case of a woman in her early 20s with a history of recurrent infection, atopic dermatitis, filariasis and bilateral purulent ear discharge since childhood with tonsillar enlargement on examination. She was started on supportive care and evaluated for primary immunodeficiency disease. Blood investigations revealed increased IgM levels with reduced IgG, IgA and IgE levels. Radiological imaging of the...

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Identifiers

PMID: 36931691
DOI: 10.1136/bcr-2022-253878
PMCID: PMC10030550

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