Search Results - "Al Saud, Bandar K."

Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency by Le Voyer, Tom, Sakata, Sonoko, Tsumura, Miyuki, Khan, Taushif, Esteve-Sole, Ana, Al-Saud, Bandar K, Gungor, Hatice Eke, Taur, Prasad, Jeanne-Julien, Valentine, Christiansen, Mette, Köhler, Lisa-Maria, ElGhazali, Gehad Eltayeb, Rosain, Jérémie, Nishimura, Shiho, Sakura, Fumiaki, Bouaziz, Matthieu, Oleaga-Quintas, Carmen, Nieto-Patlán, Alejandro, Deyà-Martinez, Àngela, Altuner Torun, Yasemin, Neehus, Anna-Lena, Roynard, Manon, Bozdemir, Sefika Elmas, Al Kaabi, Nawal, Al Hassani, Moza, Mersiyanova, Irina, Rozenberg, Flore, Speckmann, Carsten, Hainmann, Ina, Hauck, Fabian, Alzahrani, Mohammed Hamdan, Alhajjar, Sami Hussain, Al-Muhsen, Saleh, Cole, Theresa, Fuleihan, Ramsay, Arkwright, Peter D, Badolato, Raffaele, Alsina, Laia, Abel, Laurent, Desai, Mukesh, Al-Mousa, Hamoud, Shcherbina, Anna, Marr, Nico, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Okada, Satoshi, Bustamante, Jacinta

“…Autosomal recessive (AR) STAT1 deficiency is a severe inborn error of immunity disrupting cellular responses to type I, II, and III IFNs, and IL-27, and…”
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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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Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation by Alroqi, Fayhan J., Charbonnier, Louis-Marie, Baris, Safa, Kiykim, Ayca, Chou, Janet, Platt, Craig D., Algassim, Abdulrahman, Keles, Sevgi, Al Saud, Bandar K., Alkuraya, Fowzan S., Jordan, Michael, Geha, Raif S., Chatila, Talal A.

“…LPS-responsive beige-like anchor protein (LRBA) and cytotoxic T lymphocyte–associated antigen 4 (CTLA4) deficiencies give rise to overlapping phenotypes of…”
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Clinical, Immunological, and Molecular Characterization of Hyper-IgM Syndrome Due to CD40 Deficiency in Eleven Patients by Al-Saud, Bandar K., Al-Sum, Zobaida, Alassiri, Hanadi, Al-Ghonaium, Abdulaziz, Al-Muhsen, Saleh, Al-Dhekri, Hasan, Arnaout, Rand, Alsmadi, Osama, Borrero, Esteban, Abu-Staiteh, Asm’a, Rawas, Faisal, Al-Mousa, Hamoud, Hawwari, Abbas

“…Purpose Hyper-IgM syndrome due to CD40 deficiency (HIGM3) is a rare form of primary immunodeficiency with few reported cases. In this study, we further…”
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Exaggerated T Follicular Helper Cell Responses in LRBA Deficiency Due to Failure of CTLA4-Mediated Regulation by Alroqi, Fayhan J., MD, Charbonnier, Louis-Marie, PhD, Baris, Safa, MD, Kiykim, Ayca, MD, Chou, Janet, MD, Platt, Craig D., MD, PhD, Algassim, Abdulrahman, MD, Keles, Sevgi, MD, Al Saud, Bandar K., MD, Alkuraya, Fowzan S., MD, Jordan, Michael, MD, Geha, Raif S., MD, Chatila, Talal A., MD, MSc

“…Abstract Purpose LRBA (lipopolysaccharide-responsive beige like anchor protein) and CTLA4 (cytotoxic T lymphocyte antigen 4) deficiencies give rise to…”
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Human inherited complete STAT2 deficiency underlies inflammatory viral diseases by Bucciol, Giorgia, Moens, Leen, Ogishi, Masato, Rinchai, Darawan, Matuozzo, Daniela, Momenilandi, Mana, Kerrouche, Nacim, Cale, Catherine M, Treffeisen, Elsa R, Al Salamah, Mohammad, Al-Saud, Bandar K, Lachaux, Alain, Duclaux-Loras, Remi, Meignien, Marie, Bousfiha, Aziz, Benhsaien, Ibtihal, Shcherbina, Anna, Roppelt, Anna, Gothe, Florian, Houhou-Fidouh, Nadhira, Hackett, Scott J, Bartnikas, Lisa M, Maciag, Michelle C, Alosaimi, Mohammed F, Chou, Janet, Mohammed, Reem W, Freij, Bishara J, Jouanguy, Emmanuelle, Zhang, Shen-Ying, Boisson-Dupuis, Stephanie, Béziat, Vivien, Zhang, Qian, Duncan, Christopher Ja, Hambleton, Sophie, Casanova, Jean-Laurent, Meyts, Isabelle

“…STAT2 is a transcription factor activated by type I and III IFNs. We report 23 patients with loss-of-function variants causing autosomal recessive (AR)…”
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Human inherited complete STAT2 deficiency underlies inflammatory viral diseases by Bucciol, Giorgia, Moens, Leen, Ogishi, Masato, Rinchai, Darawan, Matuozzo, Daniela, Momenilandi, Mana, Kerrouche, Nacim, Cale, Catherine M, Treffeisen, Elsa R, Al Salamah, Mohammad, Al-Saud, Bandar K, Lachaux, Alain, Duclaux-Loras, Remi, Meignien, Marie, Bousfiha, Aziz, Benhsaien, Ibtihal, Shcherbina, Anna, Roppelt, Anna, Gothe, Florian, Houhou-Fidouh, Nadhira, Hackett, Scott J, Bartnikas, Lisa M, Maciag, Michelle C, Alosaimi, Mohammed F, Chou, Janet, Mohammed, Reem W, Freij, Bishara J, Jouanguy, Emmanuelle, Zhang, Shen-Ying, Boisson-Dupuis, Stephanie, Béziat, Vivien, Zhang, Qian, Duncan, Christopher J A, Hambleton, Sophie, Casanova, Jean-Laurent, Meyts, Isabelle

“…STAT2 is a transcription factor activated by type I and III IFNs. We report 23 patients with loss-of-function variants causing autosomal recessive (AR)…”
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A novel mutation in the POLE2 gene causing combined immunodeficiency by Frugoni, Francesco, Dobbs, Kerry, Felgentreff, Kerstin, Aldhekri, Hasan, Al Saud, Bandar K, Arnaout, Rand, Ali, Afshan Ashraf, Abhyankar, Avinash, Alroqi, Fayhan, Giliani, Silvia, Ojeda, Mayra Martinez, Tsitsikov, Erdyni, Pai, Sung-Yun, Casanova, Jean Laurent, Notarangelo, Luigi D, Manis, John P

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