<i>JAGN1</i> mutations in severe congenital neutropenia

McDermott, David H.; Malech, Harry L.

doi:10.1111/bjh.17135

Cited by 1 publication

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References 17 publications

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“…Cipe et al have reported a case of JAGN1 mutation on clinical surveillance by G-CSF and some episodes of pneumonia annually, which is managed by increasing the dose of G-CSF and proper antibiotic therapy [ 6 ]. Promising results of genetic corrective-based treatments and targeted therapies in other types of SCN have shown a new horizon in treating these patients [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2023

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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 reported JAGN1 mutation with different clinical manifestations. Recurrent abscess formation unresponsive to antibiotic therapy, a history of delayed umbilical separation, frequent bacterial or fungal infection, dysmorphic face, failure to thrive, and other coexisting organ abnormalities should prompt physicians to syndromic immunodeficiencies involving neutrophils. Genetic investigations to elucidate the responsible mutation is critical as clinical management varies. Once the diagnosis is confirmed, a multi-disciplinary team should perform further workups to investigate other coexisting malformations and neurodevelopmental evaluation.

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Section: Discussionmentioning

confidence: 99%