A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis
Document Type
Report
Department
Paediatrics and Child Health
Abstract
JAK3 is a tyrosine kinase essential for signaling downstream of the common gamma chain subunit shared by multiple cytokine receptors. JAK3 deficiency results in T-B+NK- severe combined immune deficiency (SCID). We report a patient with SCID due to a novel mutation in the JAK3 JH4 domain. The function of the JH4 domain remains unknown. This is the first report of a missense mutation in the JAK3 JH4 domain, thereby demonstrating the importance of the JH4 domain of JAK3 in host immunity.
Publication (Name of Journal)
Clinical Immunology
Recommended Citation
Qamar, F.,
Junejo, S.,
Qureshi, S.,
Seleman, M.,
Bainter, W.,
Massaad, M.,
Chou, J.,
Geha, R. S.
(2017). A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis. Clinical Immunology, 183, 198-200.
Available at:
https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/398