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Article

Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1.

Journal of clinical immunology - 1 Jan 2018

Tang Paoyun, Upton Julia E M, Barton-Forbes Michelle A, Salvadori Marina I, Clynick Meghan P, Price April K, Goobie Sharan L

Abstract excerpt

The role of class IA phosphoinositide 3 kinases (PI3Ks) in immune function and regulation continues to expand with the identification of greater numbers of genetic variants. This case report is the second reported case of a homozygous premature stop codon within the PIK3R1 gene leading to autosomal recessive agammaglobulinemia. The proband, born to consanguineous parents, presented at 10 months of age with a...

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PMID: 29178053
DOI: 10.1007/s10875-017-0462-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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