Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity.

Authors: Alajlan, Huda¹ (AUTHOR), Raducanu, Vlad-Stefan² (AUTHOR), Lopez de los Santos, Yossef³ (AUTHOR), Tehseen, Muhammad² (AUTHOR), Alruwaili, Hibah¹ (AUTHOR), Al-Mazrou, Amer⁴ (AUTHOR), Mohammad, Reem⁵ (AUTHOR), Al-Alwan, Monther^4,6 (AUTHOR), De Biasio, Alfredo² (AUTHOR), Merzaban, Jasmeen S.³ (AUTHOR), Al-Mousa, Hamoud^5,6 (AUTHOR) hamoudalmousa@kfshrc.edu.sa, Hamdan, Samir M.² (AUTHOR) samir.hamdan@kaust.edu.sa, Alazami, Anas M.¹ (AUTHOR) amalazami@kfshrc.edu.sa

Source: Journal of Clinical Immunology. Oct2024, Vol. 44 Issue 7, p1-14. 14p.

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders

Authors: Bohlega, Saeed A., Abou-Al-Shaar, Hussam, AlDakheel, Amaal, Alajlan, Huda, Bohlega, Balsam S., Meyer, Brian F., Monies, Dorota, Cupler, Edward J., Al-Saif, Amr M.

Source: In Parkinsonism and Related Disorders July 2019 64:145-149

STK4 Deficiency in a Patient with Immune Complex Glomerulonephritis, Salt-Losing Tubulopathy, and Castleman's-Like Disease

Authors: Al-Saud, Bandar, Alajlan, Huda, Sabar, Haneen, Anwar, Siddiq, Alruwaili, Hibah, Al-Hussain, Turki, Alamri, Nada, Alazami, Anas M.

Source: Journal of clinical immunology. 39(8):823-826

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100127649128.0x000001&indx=1&recIds=ETOCvdc_100127649128.0x000001

A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report.

Authors: Al-Saud, Bandar, Alajlan, Huda, Alruwaili, Hibah, Almoaibed, Latifa, Al-Mazrou, Amer, Ghebeh, Hazem, Al-Alwan, Monther, Alazami, Anas M.

Source: Frontiers in Immunology; 2024, p1-7, 7p

Subject Terms: T cells, LYMPHOPENIA, PHENOTYPES, GENETIC mutation, SYMPTOMS, EPSTEIN-Barr virus

ZNFX1 Deficiency in a Child with Interstitial Pneumonitis and Peripheral Monocytosis.

Authors: Al-Saud, Bandar, Al-Mogarri, Ibrahim, Alajlan, Huda, Alkhattabi, Fadia, Al-Ahmari, Ali, Alowain, Mohammed, Alshareef, Turki, Al-Alwan, Monther, Alazami, Anas M.

Source: Journal of Clinical Immunology; Oct2023, Vol. 43 Issue 7, p1529-1532, 4p

Subject Terms: PULMONARY fibrosis, INTERSTITIAL lung diseases, THROMBOTIC thrombocytopenic purpura, MONONUCLEAR leukocytes

Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia.

Authors: Sheikh, Farrukh¹ (AUTHOR), Alajlan, Huda² (AUTHOR), Albanyan, Maram¹ (AUTHOR), Alruwaili, Hibah² (AUTHOR), Alawami, Fatimah¹ (AUTHOR), Sumayli, Safia¹ (AUTHOR), Al Gazlan, Sulaiman¹ (AUTHOR), Abu Awwad, Sawsan³ (AUTHOR), Al-Dhekri, Hasan³ (AUTHOR), Al-Saud, Bandar^3,4 (AUTHOR), Arnaout, Rand¹ (AUTHOR), Alrayes, Hassan¹ (AUTHOR), Sayes, Najla⁵ (AUTHOR), Al-Hamed, Mohamed H.⁶ (AUTHOR), Al-Mousa, Hamoud^3,4,7 (AUTHOR), AlShareef, Saad¹ (AUTHOR), Alazami, Anas M.^2,7 (AUTHOR) amalazami@kfshrc.edu.sa

Source: Journal of Clinical Immunology. Feb2023, Vol. 43 Issue 2, p479-484. 6p.

Subject Terms: *ANGIONEUROTIC edema, *GENOTYPES, *COMPLEMENT inhibition, *PHENOTYPES, *GASTROINTESTINAL system

Geographic Terms: SAUDI Arabia

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PAX1 is essential for development and function of the human thymus.

Authors: Yamazaki, Yasuhiro, Urrutia, Raul, Franco, Luis M., Giliani, Silvia, Zhang, Kejian, Alazami, Anas M., Dobbs, A. Kerry, Masneri, Stefania, Joshi, Avni, Otaizo-Carrasquero, Francisco, Myers, Timothy G., Ganesan, Sundar, Bondioni, Maria Pia, Ho, Mai Lan, Marks, Catherine, Alajlan, Huda, Mohammed, Reem W., Zou, Fanggeng, Valencia, C. Alexander, Filipovich, Alexandra H.

Source: Science Immunology; 2020, Vol. 5 Issue 44, p1-14, 14p

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Authors: Zhang, Zinan, Gothe, Florian, Pennamen, Perrine, James, John R., McDonald, David, Mata, Carlos P., Modis, Yorgo, Alazami, Anas M., Acres, Meghan, Haller, Wolfram, Bowen, Claire, Döffinger, Rainer, Sinclair, Jan, Brothers, Shannon, Zhang, Yu, Matthews, Helen F., Naudion, Sophie, Pelluard, Fanny, Alajlan, Huda, Yamazaki, Yasuhiro, Notarangelo, Luigi D., Thaventhiran, James E., Engelhardt, Karin R., Al-Mousa, Hamoud, Hambleton, Sophie, Rooryck, Caroline, Smith, Kenneth G.C., Lenardo, Michael J.

Source: The Journal of Experimental Medicine; June 2019, Vol. 216 Issue: 6 p1311-1327, 17p