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Article

Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome.

The Journal of allergy and clinical immunology - 1 Mar 2020

Pilarowski Genay O, Cazares Tareian, Zhang Li, Benjamin Joel S, Liu Ke, Jagannathan Sajjeev, Mousa Nadeem, Kasten Jennifer, Barski Artem, Lindsley Andrew W, Bjornsson Hans T

Abstract excerpt

BACKGROUND: Kabuki syndrome (KS) is commonly caused by mutations in the histone-modifying enzyme lysine methyltransferase 2D (KMT2D). Immune dysfunction is frequently observed in individuals with KS, but the role of KMT2D in immune system function has not been identified. OBJECTIVE: We sought to understand the mechanisms driving KS-associated immune deficiency (hypogammaglobulinemia [low IgA], splenomegaly, and...

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Identifiers

PMID: 31816409
DOI: 10.1016/j.jaci.2019.11.034

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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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