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Article

Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes.

The Journal of pediatrics - 1 Nov 2024

Kobayashi Erica Sanford, Lotan Nava Shaul, Schejter Yael Dinur, Makowski Christine, Kraus Verena, Ramchandar Nanda, Meiner Vardiella, Thiffault Isabelle, Farrow Emily, Cakici Julie, Kingsmore Stephen, Wagner Matias, Rieber Nikolaus, Bainbridge Matthew

Abstract excerpt

To evaluate a novel candidate disease gene, we engaged international collaborators and identified rare, biallelic, specifically homozygous, loss of function variants in SENP7 in 4 children from 3 unrelated families presenting with neurodevelopmental abnormalities, dysmorphism, and immunodeficiency. Their clinical presentations were characterized by hypogammaglobulinemia, intermittent neutropenia, and ultimately...

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Identifiers

PMID: 38972567
DOI: 10.1016/j.jpeds.2024.114180
PMCID: PMC11556246

Genes

SENP7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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