Search Results - "Arnaout, Rand"

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases by Al-Mousa, Hamoud, MD, Abouelhoda, Mohamed, PhD, Monies, Dorota M., PhD, Al-Tassan, Nada, PhD, Al-Ghonaium, Abdulaziz, MD, Al-Saud, Bandar, MD, Al-Dhekri, Hasan, MD, Arnaout, Rand, MD, Al-Muhsen, Saleh, MD, Ades, Nazema, BN, Elshorbagi, Sahar, MD, Al Gazlan, Sulaiman, MD, Sheikh, Farrukh, MD, Dasouki, Majed, MD, El-Baik, Lina, BSc, Elamin, Tanzeil, MS, Jaber, Amal, BSc, Kheir, Omnia, BPharm, El-Kalioby, Mohamed, MS, Subhani, Shazia, MS, Al Idrissi, Eman, MD, Al-Zahrani, Mofareh, MD, Alhelale, Maryam, MD, Alnader, Noukha, BSc, Al-Otaibi, Afaf, BSc, Kattan, Rana, BSc, Al Abdelrahman, Khalid, BSc, Al Breacan, Muna M., BSc, Bin Humaid, Faisal S., BSc, Wakil, Salma Majid, PhD, Alzayer, Fadi, BSc, Al-Dusery, Haya, BSc, Faquih, Tariq, MS, Al-Hissi, Safa, BSc, Meyer, Brian F., PhD, Hawwari, Abbas, PhD

“…Background Molecular genetics techniques are an essential diagnostic tool for primary immunodeficiency diseases (PIDs). The use of next-generation sequencing…”
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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency by Jabara, Haifa H, Boyden, Steven E, Chou, Janet, Ramesh, Narayanaswamy, Massaad, Michel J, Benson, Halli, Bainter, Wayne, Fraulino, David, Rahimov, Fedik, Sieff, Colin, Liu, Zhi-Jian, Alshemmari, Salem H, Al-Ramadi, Basel K, Al-Dhekri, Hasan, Arnaout, Rand, Abu-Shukair, Mohammad, Vatsayan, Anant, Silver, Eli, Ahuja, Sanjay, Davies, E Graham, Sola-Visner, Martha, Ohsumi, Toshiro K, Andrews, Nancy C, Notarangelo, Luigi D, Fleming, Mark D, Al-Herz, Waleed, Kunkel, Louis M, Geha, Raif S

“…Raif Geha, Louis Kunkel, Waleed Al-Herz and colleagues report a mutation in TFRC (encoding transferrin receptor 1, TfR1) that causes combined immunodeficiency…”
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Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients by Aljohani, Amal H., Al-Mousa, Hamoud, Arnaout, Rand, Al-Dhekri, Hasan, Mohammed, Reem, Alsum, Zobaida, Nicolas-Jilwan, Manal, Alrogi, Fayhan, Al-Muhsen, Saleh, Alazami, Anas M., Al-Saud, Bandar

“…Purpose Combined immunodeficiency (CID), due to mutations in TFRC gene that encodes the transferrin receptors (TfR1), is a rare monogenic disorder. In this…”
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A case report of allergic fungal rhinosinusitis managed with Dupilumab by Alotaibi, Naif H., Aljasser, Latifa A., Arnaout, Rand K., Alsomaili, Safia

“…Allergic fungal rhinosinusitis (AFRS) is a subtype of chronic rhinosinusitis with nasal polyps. It is characterized by eosinophilic mucin, which results from…”
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Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency by Alazami, Anas M, Al-Helale, Maryam, Alhissi, Safa, Al-Saud, Bandar, Alajlan, Huda, Monies, Dorota, Shah, Zeeshan, Abouelhoda, Mohamed, Arnaout, Rand, Al-Dhekri, Hasan, Al-Numair, Nouf S, Ghebeh, Hazem, Sheikh, Farrukh, Al-Mousa, Hamoud

“…Combined immunodeficiencies are a heterogeneous collection of primary immune disorders that exhibit defects in T cell development or function, along with…”
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A novel mutation in the POLE2 gene causing combined immunodeficiency by Frugoni, Francesco, PhD, Dobbs, Kerry, BS, Felgentreff, Kerstin, MD, Aldhekri, Hasan, MD, Al Saud, Bandar K., MBBS, Arnaout, Rand, MBBS, Ali, Afshan Ashraf, MD, Abhyankar, Avinash, MD, PhD, Alroqi, Fayhan, MD, Giliani, Silvia, PhD, Ojeda, Mayra Martinez, MD, Tsitsikov, Erdyni, PhD, Pai, Sung-Yun, MD, Casanova, Jean Laurent, MD, PhD, Notarangelo, Luigi D., MD, Manis, John P., MD

“…To the Editor: Early lymphocyte development requires the orchestrated interplay of pathways to maintain genomic integrity and accurate DNA repair during the…”
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Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency by Aydin, Susanne E., Freeman, Alexandra F., Al-Herz, Waleed, Al-Mousa, Hamoud A., Arnaout, Rand K., Aydin, Roland C., Barlogis, Vincent, Belohradsky, Bernd H., Bonfim, Carmem, Bredius, Robbert G., Chu, Julia I., Ciocarlie, Oana C., Doğu, Figen, Gaspar, Hubert B., Geha, Raif S., Gennery, Andrew R., Hauck, Fabian, Hawwari, Abbas, Hickstein, Dennis D., Hoenig, Manfred, Ikinciogullari, Aydan, Klein, Christoph, Kumar, Ashish, Ifversen, Marianne R.S., Matthes, Susanne, Metin, Ayse, Neven, Benedicte, Pai, Sung-Yun, Parikh, Suhag H., Picard, Capucine, Renner, Ellen D., Sanal, Özden, Schulz, Ansgar S., Schuster, Friedhelm, Shah, Nirali N., Shereck, Evan B., Slatter, Mary A., Su, Helen C., van Montfrans, Joris, Woessmann, Wilhelm, Ziegler, John B., Albert, Michael H.

“…Biallelic variations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency with eczema, recurrent bacterial and viral infections,…”
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The clinical utility of rapid exome sequencing in a consanguineous population by Monies, Dorota, Goljan, Ewa, Assoum, Mirna, Albreacan, Muna, Binhumaid, Faisal, Subhani, Shazia, Boureggah, Abdulmlik, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Temsah, Mohamad H, Alsohime, Fahad, Kelaher, James, Abouelhoda, Mohamed, Meyer, Brian F, Alkuraya, Fowzan S

“…The clinical utility of exome sequencing is now well documented. Rapid exome sequencing (RES) is more resource-intensive than regular exome sequencing and is…”
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Clinical characteristics and management of chronic spontaneous urticaria in patients refractory to H1-Antihistamines in Asia, Middle-East and Africa: Results from the AWARE-AMAC study by Chu, Chia-Yu, Al Hammadi, Anwar, Agmon-Levin, Nancy, Atakan, Nilgun, Farag, Assem, Arnaout, Rand K., Kannenberg, Suretha, Kulthanan, Kanokvalai, Mubarak, Asmara, Zaitoun, Fares, Crowe, Susanne, Malfait, Sigrid, Cooke, Kathryn, Dekker, Elise L.

“…Chronic urticaria (CU) is a condition characterized by recurrent itchy hives and/or angioedema for ≥6 weeks. Most of the data about CU come from western…”
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Consensus on diagnosis and management of Hereditary Angioedema in the Middle East: A Delphi initiative by Maurer, Marcus, Abuzakouk, Mohamed, Al-Ahmad, Mona, Al-Herz, Waleed, Alrayes, Hassan, Al-Tamemi, Salem, Arnaout, Rand, Binghadeer, Hend, Gutta, Ravi, Irani, Carla, Mobayed, Hassan, Nasr, Iman, Shendi, Hiba, Zaitoun, Fares

“…Hereditary angioedema (HAE), a potentially life-threatening genetic disorder due to C1 inhibitor deficiency in most cases, is characterized by sudden and/or…”
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Assessment of pain in patients with primary immune deficiency by Al Banyan, Maram, Al Shareef, Saad, Aljayar, Dina, Abothenain, Fayha, Khaliq, Agha, Alrayes, Hassan, Arnaout, Rand, Sheikh, Farrukh

“…Background: Primary immune deficiency (PID) patients may develop acute or chronic pain. Pain has not been studied in this population until now. Objectives:…”
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Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery by Jacob, Minnie, Gu, Xinyun, Luo, Xian, Al-Mousa, Hamoud, Arnaout, Rand, Al-Saud, Bandar, L Lopata, Andreas, Li, Liang, Dasouki, Majed, Rahman, Anas M Abdel

“…Bi-allelic mutations in the dedicator of cytokinesis 8 ( ) are responsible for a rare autosomal recessive primary combined immunodeficiency syndrome,…”
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Clinical characteristics and management of chronic spontaneous urticaria in patients refractory to H 1 -Antihistamines in Asia, Middle-East and Africa: Results from the AWARE-AMAC study by Chu, Chia-Yu, Al Hammadi, Anwar, Agmon-Levin, Nancy, Atakan, Nilgun, Farag, Assem, Arnaout, Rand K, Kannenberg, Suretha, Kulthanan, Kanokvalai, Mubarak, Asmara, Zaitoun, Fares, Crowe, Susanne, Malfait, Sigrid, Cooke, Kathryn, Dekker, Elise L

“…Chronic urticaria (CU) is a condition characterized by recurrent itchy hives and/or angioedema for ≥6 weeks. Most of the data about CU come from western…”
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Proteomics Profiling to Distinguish DOCK8 Deficiency From Atopic Dermatitis by Jacob, Minnie, Masood, Afshan, Shinwari, Zakiya, Abdel Jabbar, Mai, Al-Mousa, Hamoud, Arnaout, Rand, AlSaud, Bandar, Dasouki, Majed, Alaiya, Ayodele A, Abdel Rahman, Anas M

“…Dedicator of cytokinesis 8 deficiency is an autosomal recessive primary immune deficiency disease belonging to the group of hyperimmunoglobulinemia E syndrome…”
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C5 Complement Deficiency in a Saudi Family, Molecular Characterization of Mutation and Literature Review by Arnaout, Rand, Al Shorbaghi, Sahar, Al Dhekri, Hasan, Al-Mousa, Hamoud, Al Ghonaium, Abdulaziz, Al Saud, Bandar, Al Muhsen, Saleh, Al Baik, Lina, Hawwari, Abbas

“…Introduction Complement deficiencies are rare primary immunodeficiency disorders, the diagnosis of which is often underestimated. Only a small number of…”
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Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia by Alsmadi, Osama, Al-Ghonaium, Abdulaziz, Al-Muhsen, Saleh, Arnaout, Rand, Al-Dhekri, Hasan, Al-Saud, Bandar, Al-Kayal, Fadi, Al-Saud, Haya, Al-Mousa, Hamoud

“…Children with Severe Combined Immunodeficiency (SCID) lack autologous T lymphocytes and present with multiple infections early in infancy. Omenn syndrome is…”
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Anti-IgE therapy for asthma: an audit at a tertiary care centre in Saudi Arabia by Weheba, Ihab Mokhtar, Abdelsayed, Abeer Mohamed, Arnaout, Rand Khaled, Zeitouni, Mohamed Omar, Mobaireek, Khalid Fahad, AlHarthi, Tahani Bakheet, Mobeireek, Abdullah Fahad

“…BACKGROUND: Although anti-IgE therapy has been shown to offer numerous benefits, we suspect it is underutilized locally. To date, there are no studies on any…”
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Ocular manifestations in chronic granulomatous disease in Saudi Arabia by Al-Muhsen, Saleh, MD, Al-Hemidan, Amal, MD, Al-Shehri, Amer, MD, Al-Harbi, Abdullah, MD, Al-Ghonaium, Abdulaziz, MD, Al-Saud, Bandar, MD, Al-Mousa, Hamoud, Al-Dhekri, Hasan, MD, Arnaout, Rand, MD, Al-Mohsen, Ibrahim, MD, Alsmadi, Osama, PhD

“…Introduction Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by a genetic defect in the NADPH oxidase complex of phagocytic…”
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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population by 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, Aldhalaan, Hisham, Kurdi, Wesam, Khan, Sameena, Rahbeeni, Zuhair, Goljan, Ewa, Elbardisy, Hadeel, ElKalioby, Mohamed, Shah, Zeeshan, 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, Alsaleem, Khalid, Badawi, Manal, Bashiri, Fahad, Bohlega, Saeed, Tous, Ehab, Ahmed, Syed, Algoufi, Talal, Al-Mousa, Hamoud, Alaki, Emadia, Alhumaidi, Susan, Alghamdi, Hadeel, Alghamdi, Malak, Sahly, Ahmed, Al-Ahmari, Ali, Alkuraya, Hisham, Almehaidib, Ali, Abanemai, Mohammed, Alsohaibaini, Fahad, Arnaout, Rand, Abdel-Salam, Ghada M.H., Aldhekri, Hasan, AlKhater, Suzan, Alqadi, Khalid, Alshareef, Turki, Banjar, Hanaa, Alsahan, Nada, Abosoudah, Ibraheem, Alashwal, Abdullah, Alhajjar, Sami, Al-Mayouf, Sulaiman, Alsemari, Abdulaziz, Alshuaibi, Walaa, Altala, Saeed, Baz, Salah, Hamad, Muddathir, Abalkhail, Tariq, Alenazi, Badi, Alkaff, Alya, Almohareb, Fahad, Al Mutairi, Fuad, Alsaleh, Mona, Alzelaye, Somaya, Bahzad, Shakir, Manee, Abdulaziz Bin, Jarrad, Ola, Meriki, Neama, Albeirouti, Bassem, Alqasmi, Amal, AlBalwi, Mohammed, Makhseed, Nawal, Hassan, Saeed, Shaheen, Marwan, Sermin, Saadeh, Shahrukh, Shamsad, Hashmi, Shahrukh, Shawli, Ayman, Tamim, Abdullah, Alnahari, Ahmed, Ghemlas, Ibrahim, Hussein, Maged, Wali, Sami, Murad, Hatem, Alkuraya, Fowzan S.

“…We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of…”
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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes by Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Al-Owain, Mohammed, Shah, Ayaz, Rahbeeni, Zuhair, Al-Muhaizea, Mohammad A., Alzaidan, Hamad I., Cupler, Edward, Bohlega, Saeed, Faqeih, Eissa, Faden, Maha, Alyounes, Banan, Jaroudi, Dyala, Goljan, Ewa, Elbardisy, Hadeel, Akilan, Asma, Albar, Renad, Aldhalaan, Hesham, Gulab, Shamshad, Chedrawi, Aziza, Al Saud, Bandar K, Kurdi, Wesam, Makhseed, Nawal, Alqasim, Tahani, El Khashab, Heba Y., Al-Mousa, Hamoud, Kanaan, Imaduddin, Algoufi, Talal, Alsaleem, Khalid, Basha, Talal A., Al-Murshedi, Fathiya, Al-Kindy, Adila, Al-Hajjar, Sami, Alyamani, Suad, Aldhekri, Hasan, Al-Mehaidib, Ali, Arnaout, Rand, Dabbagh, Omar, Shagrani, Mohammad, Broering, Dieter, Alqassmi, Amal, Almugbel, Maisoon, AlQuaiz, Mohammed, Alsaman, Abdulaziz, Al-Thihli, Khalid, Sulaiman, Raashda A., Al-Dekhail, Wajeeh, Alsaegh, Abeer, Bashiri, Fahad A., Qari, Alya, Alhomadi, Suzan, Alkuraya, Hisham, Alsebayel, Mohammed, Hamad, Muddathir H, Szonyi, Laszlo, Abaalkhail, Faisal, Al-Mayouf, Sulaiman M., Almojalli, Hamad, Alqadi, Khalid S., Elsiesy, Hussien, Shuaib, Taghreed M., Seidahmed, Mohammed Zain, Abosoudah, Ibraheem, Akleh, Hana, AlGhonaium, Abdulaziz, Alkharfy, Turki M., Al Mutairi, Fuad, Eyaid, Wafa, Alshanbary, Abdullah, Sheikh, Farrukh R., Alsohaibani, Fahad I., Al Tala, Saeed, Balkhy, Soher, Bassiouni, Randa, Alenizi, Ahmed S., Hussein, Maged H., Hassan, Saeed, Khalil, Mohamed, Tabarki, Brahim, Alshahwan, Saad, Oshi, Amira, Sabr, Yasser, Alsaadoun, Saad, Salih, Mustafa A., Mohamed, Sarar, Sultana, Habiba, Tamim, Abdullah, El-Haj, Moayad, Alshahrani, Saif, Bubshait, Dalal K., Alfadhel, Majid, Faquih, Tariq, El-Kalioby, Mohamed, Shah, Zeeshan, Moghrabi, Nabil, Meyer, Brian F., Alkuraya, Fowzan S.

“…In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a…”
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