Publications by authors named "Anas M AlAzami"

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Clinical, immunological, molecular characteristics and outcomes of stem cell transplantation in deficiency: a single-center experience.
Fai AlQahtani, Azhar Al Shaqaq, Bandar Al-Saud, Nora AlRumayyan, Reem Mohammed, Anas M Alazami

Front Immunol· October 2025

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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, Anas M Alazami

J Clin Immunol· September 2025

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Hematopoietic Stem Cell Transplantation Corrects IL-2Rβ Deficiency.
Fai AlQahtani, Manar AlGhamdi, Mofareh AlZahrani, Anas M AlAzami, Sultan Al-Buhairi

J Clin Immunol· January 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, Anas M Alazami

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, Anas M Alazami

Front Immunol· February 2024

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A double edged sword against glioblastoma, inhibiting glioblastoma cell line growth by targeting histone deacetylases (HDAC) and angiogenesis.
Shamsa Hilal Saleh Alanazi, Muhammad Farooq Khan, Anas M Alazami, Almohannad Baabbad, Mohammad Ahmed Wadaan

Heliyon· January 2024

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ZNFX1 Deficiency in a Child with Interstitial Pneumonitis and Peripheral Monocytosis.
Bandar Al-Saud, , Turki Alshareef, Monther Al-Alwan, Anas M Alazami

J Clin Immunol· October 2023

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A homozygous truncating mutation of FGL2 is associated with immune dysregulation.
Erin Janssen, Mohammad F Alosaimi, Anas M Alazami, Abdullah Alsuliman, Ayodele Alaiya

J Allergy Clin Immunol· February 2023

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

J Clin Immunol· February 2023

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Clinical and Immunological Features of Human BCL10 Deficiency.
Blanca Garcia-Solis, Ana Van Den Rym, Jareb J Pérez-Caraballo, Abdulwahab Al-Ayoubi, Anas M Alazami

Front Immunol· February 2022

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Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome.
Sulaiman M Al-Mayouf, Hajar A Alreefi, Tuqa A Alsinan, Ghada AlSalmi, Abdulaziz AlRowais, Anas M Alazami

Mod Rheumatol· November 2021

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Phenoidentical HLA-Related Hematopoietic Stem Cell Transplant Without Conditioning to Reconstitute a Patient with a Putative Loss-of-Function CARD11 Mutation.
Bashayer Al-Rasheed, Anas M Alazami, Hamoud Al-Mousa

J Clin Immunol· November 2020

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Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients.
Amal H Aljohani, Hamoud Al-Mousa, Rand Arnaout, Hasan Al-Dhekri, Reem Mohammed, Anas M Alazami

J Clin Immunol· November 2020

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Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.
Janet Chou, Anas M Alazami, Faris Jaber, Rodrigo Hoyos-Bachiloglu, Jennifer Jones

J Allergy Clin Immunol· July 2020

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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, Anas M Alazami

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, Anas M Alazami

J Clin Immunol· November 2019

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Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.
Salma M Wakil, Safa Alhissi, Haya Al Dossari, Ayesha Alqahtani, Sherin Shibin, Anas M Alazami

BMC Med Genet· 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, Anas M Alazami

J Exp Med· June 2019

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Genomic and phenotypic delineation of congenital microcephaly.
Ranad Shaheen, Sateesh Maddirevula, Nour Ewida, Saud Alsahli, Ghada M H Abdel-Salam, Anas M Alazami

Genet Med· March 2019

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PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.
Ranad Shaheen, Monika Tasak, Sateesh Maddirevula, Ghada M H Abdel-Salam, Inas S M Sayed, Anas M Alazami

Hum Genet· March 2019

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Quantitative profiling of cytokines and chemokines in DOCK8-deficient and atopic dermatitis patients.
Minnie Jacob, Duaa Bin Khalaf, Safa Alhissi, Rand Arnout, Bander Alsaud, Anas M Alazami

Allergy· February 2019

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A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.
Anas M Alazami, Sateesh Maddirevula, Mohamed Zain Seidahmed, Lulu A Albhlal, Fowzan S Alkuraya

Hum Genet· January 2019

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Expanding the phenome and variome of skeletal dysplasia.
Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Anas M Alazami

Genet Med· December 2018

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Publisher Correction: Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice.
Asmaa Ali, Bhavesh V Mistry, Hala A Ahmed, Razan Abdulla, Hassan A Amer, Anas M Alazami

Sci Rep· August 2018

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Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice.
Asmaa Ali, Bhavesh V Mistry, Hala A Ahmed, Razan Abdulla, Hassan A Amer, Anas M Alazami

Sci Rep· June 2018

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