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

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 facia...

Descripción completa

Detalles Bibliográficos
Autores principales: Hojabri, Mahsa, Farsi, Yeganeh, Jamee, Mahnaz, Abolhassani, Hassan, Khani, Hedieh Haji Khodaverdi, Karimi, Abdollah, Mesdaghi, Mehrnaz, Chavoshzadeh, Zahra, Sharafian, Samin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10148515/
https://www.ncbi.nlm.nih.gov/pubmed/37120535
http://dx.doi.org/10.1186/s12887-023-04024-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10148515/
https://www.ncbi.nlm.nih.gov/pubmed/37120535
http://dx.doi.org/10.1186/s12887-023-04024-y

Ejemplares similares