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

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

Abstract 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...

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Bibliographic Details
Main Authors: Mahsa Hojabri, Yeganeh Farsi, Mahnaz Jamee, Hassan Abolhassani, Hedieh Haji Khodaverdi Khani, Abdollah Karimi, Mehrnaz Mesdaghi, Zahra Chavoshzadeh, Samin Sharafian
Format: Article
Language:English
Published: BMC 2023-04-01
Series:BMC Pediatrics
Subjects:
Jagunal homolog 1
Severe congenital neutropenia
JAGN1
Inborn error of immunity
Online Access:https://doi.org/10.1186/s12887-023-04024-y

Internet

https://doi.org/10.1186/s12887-023-04024-y

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