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Article

JAGN1 mutation with distinct clinical features; two case reports and literature review.

BMC pediatrics - 29 Apr 2023

Hojabri Mahsa, Farsi Yeganeh, Jamee Mahnaz, Abolhassani Hassan, Khani Hedieh Haji Khodaverdi, Karimi Abdollah, Mesdaghi Mehrnaz, Chavoshzadeh Zahra, Sharafian Samin

Abstract excerpt

Jagunal homolog 1 (JAGN1) has been recognized as an essential protein in neutrophil function. The mutated JAGN1 is responsible for immunodeficiency related to innate and humoral defense mechanisms. This deficiency impairs neutrophil development and function, leading to recurrent infections and facial dysmorphism as phenotypic consequences of severe congenital neutropenia (SCN). We report two siblings having the...

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Identifiers

PMID: 37120535
DOI: 10.1186/s12887-023-04024-y
PMCID: PMC10148515

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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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