Associated Papers
The Skin Tells the Story: Early Signs of Inborn Errors of Immunity.
Meric Z et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2026
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
New mutations and new phenotypes: a case of Major Histocompatibility Complex Class II Deficiency.
Li X et al.
Immunologic Research, 2024
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 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
Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations.
Cakir M et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2023
Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center.
Al Farsi T et al.
Frontiers in Immunology, 2022
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
Genetic Screening of the Patients with Primary Immunodeficiency by Whole-Exome Sequencing.
Erman B et al.
Pediatric Allergy, Immunology, and Pulmonology, 2020
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
32373116 (PubMed )
Supplement: Table_1.xlsx › Table_E1_Previously_diagnosed
A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening.
Al Sukaiti N et al.
Frontiers in Immunology, 2020
Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.
Wiszniewski W et al.
Immunogenetics, 2003
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