Associated Papers
FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.
Wyatt RC et al.
Journal of Clinical Immunology, 2023
36600150 (PubMed )
Supplement: 10875_2022_1428_MOESM1_ESM.docx
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
Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.
Tang WJ et al.
World Journal of Clinical Cases, 2021
A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.
Cagdas D et al.
Journal of Clinical Immunology, 2019
Genetic mutations associated with neonatal diabetes mellitus in Omani patients.
Al Senani A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Multiple Presentations of LRBA Deficiency: a Single-Center Experience.
Kostel Bal S et al.
Journal of Clinical Immunology, 2017
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.
Johnson MB et al.
Diabetes, 2017
Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation.
Al Sukaiti N et al.
Clinical & Translational Immunology, 2017
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