A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis
Author:
Publisher
Elsevier BV
Subject
Immunology,Immunology and Allergy
Reference6 articles.
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2. Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency;Notarangelo;Hum. Mutat.,2001
3. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development;Russell;Science,1995
4. Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency;Vihinen;Clin. Immunol.,2000
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1. Janus Kinase 3 (JAK3): A Critical Conserved Node in Immunity Disrupted in Immune Cell Cancer and Immunodeficiency;International Journal of Molecular Sciences;2024-03-04
2. Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing;Genes & Immunity;2023-07-29
3. Whole-exome sequencing of T-B+ severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants;Clinical and Experimental Immunology;2020-11-02
4. The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan;World Allergy Organization Journal;2020-07
5. Are peptides a solution for the treatment of hyperactivated JAK3 pathways?;Inflammopharmacology;2019-03-30
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