A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis.
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.
['Qamar|Farah|F|', 'Junejo|Samina|S|', 'Qureshi|Sonia|S|', 'Seleman|Michael|M|', 'Bainter|Wayne|W|', 'Massaad|Michel|M|', 'Chou|Janet|J|', 'Geha|Raif S|RS|']
D017809:Fatal Outcome D005260:Female D006801:Humans D007223:Infant D053616:Janus Kinase 3 D009154:Mutation D010019:Osteomyelitis D000072417:Protein Domains D016511:Severe Combined Immunodeficiency D013131:Spine
JAK3 Severe combined immunodeficiency