A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis

Publication date: Available online 14 September 2017
Source:Clinical Immunology
Author(s): Farah Qamar, Samina Junejo, Sonia Qureshi, Michael Seleman, Wayne Bainter, Michel Massaad, Janet Chou, Raif S. Geha
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.



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