Article

Autosomal recessive agammaglobulinemia due to compound heterozygous IGHM alterations identified: a case report

2026-08-19

Abstract excerpt

Background Agammaglobulinemia type 1 (AGM1) is a rare autosomal recessive inborn error of immunity caused by biallelic defects in the immunoglobulin heavy constant mu gene (IGHM), resulting in arrested B-cell development, profound antibody deficiency, and recurrent bacterial infections. Owing to its rarity and genetic heterogeneity, establishing a molecular diagnosis may remain challenging despite extensive geneti...

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Literature Corpus work: f7930e0c-b427-5393-afc9-5570f05e01f0
DOI: 10.3389/fmed.2026.1901229

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