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

Farah Qamar; Samina Junejo; Sonia Qureshi; Michael Seleman; Wayne Bainter; Michel Massaad; Janet Chou; Raif S. Geha

doi:10.1016/j.clim.2017.09.007

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

Farah Qamar, Samina Junejo, Sonia Qureshi, Michael Seleman, Wayne Bainter, Michel Massaad, Janet Chou, Raif S. Geha

Research output: Contribution to journal › Letter › peer-review

7 Citations (Scopus)

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.

Original language	English (UK)
Pages (from-to)	198-200
Number of pages	3
Journal	Clinical Immunology
Volume	183
DOIs	https://doi.org/10.1016/j.clim.2017.09.007
Publication status	Published - Oct 2017

Keywords

JAK3
Severe combined immunodeficiency

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10.1016/j.clim.2017.09.007

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@article{d375e5b81de04511805cde4ea356b735,

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

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.",

keywords = "JAK3, Severe combined immunodeficiency",

author = "Farah Qamar and Samina Junejo and Sonia Qureshi and Michael Seleman and Wayne Bainter and Michel Massaad and Janet Chou and Geha, \{Raif S.\}",

note = "Publisher Copyright: {\textcopyright} 2017",

year = "2017",

month = oct,

doi = "10.1016/j.clim.2017.09.007",

language = "English (UK)",

volume = "183",

pages = "198--200",

journal = "Clinical Immunology",

issn = "1521-6616",

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TY - JOUR

T1 - A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis

AU - Qamar, Farah

AU - Junejo, Samina

AU - Qureshi, Sonia

AU - Seleman, Michael

AU - Bainter, Wayne

AU - Massaad, Michel

AU - Chou, Janet

AU - Geha, Raif S.

PY - 2017/10

Y1 - 2017/10

N2 - 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.

AB - 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.

KW - JAK3

KW - Severe combined immunodeficiency

UR - https://www.scopus.com/pages/publications/85029424124

U2 - 10.1016/j.clim.2017.09.007

DO - 10.1016/j.clim.2017.09.007

M3 - Letter

C2 - 28917720

AN - SCOPUS:85029424124

SN - 1521-6616

VL - 183

SP - 198

EP - 200

JO - Clinical Immunology

JF - Clinical Immunology

ER -

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

Abstract

Keywords

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