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

• Main Authors: Mahsa Hojabri (Author), Yeganeh Farsi (Author), Mahnaz Jamee (Author), Hassan Abolhassani (Author), Hedieh Haji Khodaverdi Khani (Author), Abdollah Karimi (Author), Mehrnaz Mesdaghi (Author), Zahra Chavoshzadeh (Author), Samin Sharafian (Author)
• Format: Book
• Published: BMC, 2023-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...