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Article

X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis.

Journal of clinical immunology - 1 Aug 2016

Gallagher Joel, Adams Juan, Hintermeyer Mary, Torgerson Troy R, Lopez-Guisa Jesus, Ochs Hans D, Szabo Sara, Salib Mina, Verbsky James, Routes John

Abstract excerpt

PURPOSE: X-linked hyper IgM syndrome (XHIGM) is a combined immunodeficiency caused by mutations in the CD40 ligand (CD40L) gene that typically results in decreased or absent CD40L expression on activated T cells, leading to defective class switching and somatic hypermutation. We describe an infant who presented with respiratory failure due to pulmonary alveolar proteinosis (PAP) with a novel damaging missense...

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Identifiers

PMID: 27324886
DOI: 10.1007/s10875-016-0307-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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