Publications by authors named "Huda Alajlan"

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Homozygous Loss of Function PIK3CD Mutation in Multiple Siblings Leading To B Cell Dysregulation and Autoimmunity.
Huda Alajlan, Amer Al-Mazrou, Hibah Alruwaili, Safia Sumayli, Ali Almehaidib

J Clin Immunol· September 2025

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Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity.
Huda Alajlan, Vlad-Stefan Raducanu, Yossef Lopez de Los Santos, Muhammad Tehseen, Hibah Alruwaili

J Clin Immunol· June 2024

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A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report.
Bandar Al-Saud, Huda Alajlan, Hibah Alruwaili, Latifa Almoaibed, Amer Al-Mazrou

Front Immunol· February 2024

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Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia.
Farrukh Sheikh, Huda Alajlan, Maram Albanyan, Hibah Alruwaili, Fatimah Alawami

J Clin Immunol· February 2023

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PAX1 is essential for development and function of the human thymus.
Yasuhiro Yamazaki, Raul Urrutia, Luis M Franco, Silvia Giliani, Kejian Zhang, Huda Alajlan

Sci Immunol· February 2020

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STK4 Deficiency in a Patient with Immune Complex Glomerulonephritis, Salt-Losing Tubulopathy, and Castleman's-Like Disease.
Bandar Al-Saud, Huda Alajlan, Haneen Sabar, Siddiq Anwar, Hibah Alruwaili

J Clin Immunol· November 2019

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Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.
Saeed A Bohlega, Hussam Abou-Al-Shaar, Amaal AlDakheel, Huda Alajlan, Balsam S Bohlega

Parkinsonism Relat Disord· July 2019

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Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.
Zinan Zhang, Florian Gothe, Perrine Pennamen, John R James, David McDonald, Huda Alajlan

J Exp Med· June 2019

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Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency.
Anas M Alazami, Maryam Al-Helale, Safa Alhissi, Bandar Al-Saud, Huda Alajlan

Front Immunol· April 2019

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Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues.
Saeed Bohlega, Huda Al-Ajlan, Amr Al-Saif

Eur J Hum Genet· May 2014

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