A homozygous truncating mutation of FGL2 is associated with immune dysregulation

Authors: Janssen, Erin, Alosaimi, Mohammad F., Alazami, Anas M., Alsuliman, Abdullah, Alaiya, Ayodele, Al-Saud, Bandar, Al-Mousa, Hamoud, Al-Zaid, Tariq Jassim, Smith, Emma, Platt, Craig D., Alruwaili, Hibah, Albanyan, Sarah, Al-Mayouf, Sulaiman M., Geha, Raif S.

Source: In The Journal of Allergy and Clinical Immunology February 2023 151(2):572-578

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

Authors: Alajlan, Huda, Raducanu, Vlad-Stefan, Lopez de los Santos, Yossef, Tehseen, Muhammad, Alruwaili, Hibah, Al-Mazrou, Amer, Mohammad, Reem, Al-Alwan, Monther, De Biasio, Alfredo, Merzaban, Jasmeen S., Al-Mousa, Hamoud, Hamdan, Samir M., Alazami, Anas M.

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

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Authors: Monies, Dorota, Abouelhoda, Mohammed, Assoum, Mirna, Moghrabi, Nabil, Rafiullah, Rafiullah, Almontashiri, Naif, Alowain, Mohammed, Alzaidan, Hamad, Alsayed, Moeen, Subhani, Shazia, Cupler, Edward, Faden, Maha, Alhashem, Amal, Qari, Alya, Chedrawi, Aziza, Aldhalaan, Hisham, Kurdi, Wesam, Khan, Sameena, Rahbeeni, Zuhair, Alotaibi, Maha, Goljan, Ewa, Elbardisy, Hadeel, ElKalioby, Mohamed, Shah, Zeeshan, Alruwaili, Hibah, Jaafar, Amal, Albar, Ranad, Akilan, Asma, Tayeb, Hamsa, Tahir, Asma, Fawzy, Mohammed, Nasr, Mohammed, Makki, Shaza, Alfaifi, Abdullah, Akleh, Hanna, Yamani, Suad, Bubshait, Dalal, Mahnashi, Mohammed, Basha, Talal, Alsagheir, Afaf, Abu Khaled, Musad, Alsaleem, Khalid, Almugbel, Maisoon, Badawi, Manal, Bashiri, Fahad, Bohlega, Saeed, Sulaiman, Raashida, Tous, Ehab, Ahmed, Syed, Algoufi, Talal, Al-Mousa, Hamoud, Alaki, Emadia, Alhumaidi, Susan, Alghamdi, Hadeel, Alghamdi, Malak, Sahly, Ahmed, Nahrir, Shapar, Al-Ahmari, Ali, Alkuraya, Hisham, Almehaidib, Ali, Abanemai, Mohammed, Alsohaibaini, Fahad, Alsaud, Bandar, Arnaout, Rand, Abdel-Salam, Ghada M.H., Aldhekri, Hasan, AlKhater, Suzan, Alqadi, Khalid, Alsabban, Essam, Alshareef, Turki, Awartani, Khalid, Banjar, Hanaa, Alsahan, Nada, Abosoudah, Ibraheem, Alashwal, Abdullah, Aldekhail, Wajeeh, Alhajjar, Sami, Al-Mayouf, Sulaiman, Alsemari, Abdulaziz, Alshuaibi, Walaa, Altala, Saeed, Altalhi, Abdulhadi, Baz, Salah, Hamad, Muddathir, Abalkhail, Tariq, Alenazi, Badi, Alkaff, Alya, Almohareb, Fahad, Al Mutairi, Fuad, Alsaleh, Mona, Alsonbul, Abdullah, Alzelaye, Somaya, Bahzad, Shakir, Manee, Abdulaziz Bin, Jarrad, Ola, Meriki, Neama, Albeirouti, Bassem, Alqasmi, Amal, AlBalwi, Mohammed, Makhseed, Nawal, Hassan, Saeed, Salih, Isam, Salih, Mustafa A., Shaheen, Marwan, Sermin, Saadeh, Shahrukh, Shamsad, Hashmi, Shahrukh, Shawli, Ayman, Tajuddin, Ameen, Tamim, Abdullah, Alnahari, Ahmed, Ghemlas, Ibrahim, Hussein, Maged, Wali, Sami, Murad, Hatem, Meyer, Brian F., Alkuraya, Fowzan S.

Source: In The American Journal of Human Genetics 6 June 2019 104(6):1182-1201

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

Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia.

Authors: Sheikh, Farrukh, Alajlan, Huda, Albanyan, Maram, Alruwaili, Hibah, Alawami, Fatimah, Sumayli, Safia, Al Gazlan, Sulaiman, Abu Awwad, Sawsan, Al-Dhekri, Hasan, Al-Saud, Bandar, Arnaout, Rand, Alrayes, Hassan, Sayes, Najla, Al-Hamed, Mohamed H., Al-Mousa, Hamoud, AlShareef, Saad, Alazami, Anas M.

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