Cristhel Puente

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

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 heterogen...