Associated Papers
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
Multilocus inherited neoplasia allele syndrome (MINAS) in a Turkish cohort: molecular insights and clinical relevance for precision oncology.
Bahsi T et al.
Frontiers in Pharmacology, 2025
FLT3 Mutated Acute Myeloid Leukemia after CD19 CAR-t Cells.
Galli E et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2024
Combination of Synonymous and Missense Mutations in JAK3 Gene Contributes to Severe Combined Immunodeficiency in One Child.
Wang X et al.
Human Mutation, 2023
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
Primary immunodeficiency-related genes in neonatal intensive care unit patients with various genetic immune abnormalities: a multicentre study in China.
Zhu T et al.
Clinical & Translational Immunology, 2021
Graft versus host disease and microchimerism in a JAK3 deficient patient.
Shahbazi Z et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2019
Hyperactivation of Oncogenic JAK3 Mutants Depend on ATP Binding to the Pseudokinase Domain.
Raivola J et al.
Frontiers in Oncology, 2018
Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review.
Zhong L et al.
Medicine, 2017
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs.
Pesu M et al.
Immunological Reviews, 2005
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.
Notarangelo LD et al.
Human Mutation, 2001
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.
Notarangelo LD et al.
Immunological Reviews, 2000
Structure-function effects in primary immunodeficiencies.
Korpi M et al.
Scandinavian Journal of Immunology, 2000