Associated Papers
New mutations and new phenotypes: a case of Major Histocompatibility Complex Class II Deficiency.
Li X et al.
Immunologic Research, 2024
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.
Mousavi Khorshidi MS et al.
Journal of Clinical Immunology, 2023
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome.
Alharby E et al.
Neurology. Genetics, 2021
A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review.
Cai YQ et al.
Open Forum Infectious Diseases, 2020
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
Al-Mousa H et al.
The Journal of Allergy and Clinical Immunology, 2016
Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course.
Prod'homme T et al.
Immunogenetics, 2003
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