Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

Por Alangari, Abdullah, Al-Harbi, Abdullah, Al-Ghonaium, Abdulaziz, Santisteban, Ines, Hershfield, Michael
Publicado em 2009

Molecular analysis of T(-)B(-)NK(+ )severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia

Por 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
Publicado em 2009

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM

Por Ferrari, Simona, Giliani, Silvia, Insalaco, Antonella, Al-Ghonaium, Abdulaziz, Soresina, Anna R., Loubser, Michael, Avanzini, Maria A., Marconi, Massimo, Badolato, Raffaele, Ugazio, Alberto G., Levy, Yves, Catalan, Nadia, Durandy, Anne, Tbakhi, Abdelghani, Notarangelo, Luigi D., Plebani, Alessandro
Publicado em 2001

Inherited Interleukin-12 Deficiency: IL12B Genotype and Clinical Phenotype of 13 Patients from Six Kindreds

Por Picard, Capucine, Fieschi, Claire, Altare, Frédéric, Al-Jumaah, Suliman, Al-Hajjar, Sami, Feinberg, Jacqueline, Dupuis, Stéphanie, Soudais, Claire, Al-Mohsen, Ibrahim Zaid, Génin, Emmanuelle, Lammas, David, Kumararatne, Dinakantha S., Leclerc, Tony, Rafii, Arash, Frayha, Husn, Murugasu, Belinda, Wah, Lee Bee, Sinniah, Raja, Loubser, Michael, Okamoto, Emi, Al-Ghonaium, Abdulaziz, Tufenkeji, Haysam, Abel, Laurent, Casanova, Jean-Laurent
Publicado em 2002

Selective predisposition to bacterial infections in IRAK-4–deficient children: IRAK-4–dependent TLRs are otherwise redundant in protective immunity

Por Ku, Cheng-Lung, von Bernuth, Horst, Picard, Capucine, Zhang, Shen-Ying, Chang, Huey-Hsuan, Yang, Kun, Chrabieh, Maya, Issekutz, Andrew C., Cunningham, Coleen K., Gallin, John, Holland, Steven M., Roifman, Chaim, Ehl, Stephan, Smart, Joanne, Tang, Mimi, Barrat, Franck J., Levy, Ofer, McDonald, Douglas, Day-Good, Noorbibi K., Miller, Richard, Takada, Hidetoshi, Hara, Toshiro, Al-Hajjar, Sami, Al-Ghonaium, Abdulaziz, Speert, David, Sanlaville, Damien, Li, Xiaoxia, Geissmann, Frédéric, Vivier, Eric, Maródi, László, Garty, Ben-Zion, Chapel, Helen, Rodriguez-Gallego, Carlos, Bossuyt, Xavier, Abel, Laurent, Puel, Anne, Casanova, Jean-Laurent
Publicado em 2007

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

Por Picard, Capucine, von Bernuth, Horst, Ghandil, Pegah, Chrabieh, Maya, Levy, Ofer, Arkwright, Peter D., McDonald, Douglas, Geha, Raif S., Takada, Hidetoshi, Krause, Jens C., Creech, C. Buddy, Ku, Cheng-Lung, Ehl, Stephan, Maŕodi, Ĺaszĺo, Al-Muhsen, Saleh, Al-Hajjar, Sami, Al-Ghonaium, Abdulaziz, Day-Good, Noorbibi K., Holland, Steven M., Gallin, John, Chapel, Helen, Speert, David P., Rodriguez-Gallego, Carlos, Colino, Elena, Garty, Ben-Zion, Roifman, Chaim, Hara, Toshiro, Yoshikawa, Hideto, Nonoyama, Shigeaki, Domachowske, Joseph, Issekutz, Andrew C., Tang, Mimi, Smart, Joanne, Zitnik, Simona Eva, Hoarau, Cyrille, Kumararatne, Dinakantha, Thrasher, Adrian, Davies, E. Graham, Bethune, Claire, Sirvent, Nicolas, de Ricaud, Dominique, Camcioglu, Yildiz, Vasconcelos, J́ulia, Guedes, Margarida, Vitor, Artur Bonito, Rodrigo, Carlos, AlmaŸan, Francisco, Ḿendez, Maria, Aŕostegui, Juan Ignacio, Alsina, Laia, Fortuny, Claudia, Reichenbach, Janine, Verbsky, James W, Bossuyt, Xavier, Doffinger, Rainer, Abel, Laurent, Puel, Anne, Casanova, Jean-Laurent
Publicado em 2010

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Por Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Kayyali, Husam, 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, Alhashem, Amal, Kanaan, Imaduddin, Algoufi, Talal, Alsaleem, Khalid, Basha, Talal A., Al-Murshedi, Fathiya, Khan, Sameena, Al-Kindy, Adila, Alnemer, Maha, Al-Hajjar, Sami, Alyamani, Suad, Aldhekri, Hasan, Al-Mehaidib, Ali, Arnaout, Rand, Dabbagh, Omar, Shagrani, Mohammad, Broering, Dieter, Tulbah, Maha, 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., Alsonbul, Abdullah, 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, Subhani, Shazia, Shah, Zeeshan, Moghrabi, Nabil, Meyer, Brian F., Alkuraya, Fowzan S.
Publicado no Hum Genet (2017)

Revisiting Human IL-12Rβ1 Deficiency: A Survey of 141 Patients From 30 Countries

Por de Beaucoudrey, Ludovic, Samarina, Arina, Bustamante, Jacinta, Cobat, Aurélie, Boisson-Dupuis, Stéphanie, Feinberg, Jacqueline, Al-Muhsen, Saleh, Jannière, Lucile, Rose, Yoann, Desurenaim, Maylis, Kong, Xiao-Fei, Filipe-Santos, Orchidée, Chapgier, Ariane, Picard, Capucine, Fischer, Alain, Dogu, Figen, Ikinciogullari, Aydan, Tanir, Gonul, Hajjar, Sami Al, Jumaah, Suliman Al, Frayha, Husn H., AlSum, Zobida, Ajaji, Sulaiman Al, Alangari, Abdullah, Al-Ghonaium, Abdulaziz, Adimi, Parisa, Mansouri, Davood, Mustapha, Imen Ben, Yancoski, Judith, Garty, Ben Zion, Rodriguez-Gallego, Carlos, Caragol, Isabel, Kutukculer, Necil, Kumararatne, Dinanthaka S., Patel, Smita, Doffinger, Rainer, Exley, Andrew, Jeppsson, Olle, Reichenbach, Janine, Nadal, David, Boyko, Yaryna, Pietrucha, Barbara, Anderson, Suzanne, Levin, Michael, Schandené, Liliane, Schepers, Kinda, Efira, André, Mascart, Françoise, Matsuoka, Masao, Sakai, Tatsunori, Siegrist, Claire-Anne, Frecerova, Klara, Blüetters-Sawatzki, Renate, Bernhöft, Jutta, Freihorst, Joachim, Baumann, Ulrich, Richter, Darko, Haerynck, Filomeen, De Baets, Frans, Novelli, Vas, Lammas, David, Vermylen, Christiane, Tuerlinckx, David, Nieuwhof, Chris, Pac, Malgorzata, Haas, Walther H., Müller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Levy, Jacob, Raj, Revathi, Cohen, Aileen Cleary, Lewis, David B., Holland, Steven, Yang, Kuender D., Wang, Xiaochuan, Jiang, Xiaohong Wang, Liping, Yang, Xiqiang, Zhu, Chaomin, Xie, Yuanyuan, Lee, Pamela Pui Wah, Chan, Koon Wing, Chen, Tong-Xin, Castro, Gabriela, Ivelisse, Natera, Codoceo, Ana, King, Alejandra, Bezrodnik, Liliana, Giovani, Daniela Di, Gaillard, Maria Isabel, de Moraes-Vasconcelos, Dewton, Grumach, Anete Sevciovic, Duarte, Alberto Jose da Silva, Aldana, Ruth, Espinosa-Rosales, Francisco Javier, Bejaoui, Mohammed, Bousfiha, Ahmed Aziz, El Baghdadi, Jamila, Özbek, Namik, Aksu, Guzide, Keser, Melike, Somer, Ayper, Hatipoglu, Nevin, Aydogmus, Çigdem, Asilsoy, Suna, Camcioglu, Yildiz, Gülle, Saniye, Ozgur, Tuba T., Ozen, Meteran, Oleastro, Matias, Bernasconi, Andrea, Mamishi, Setareh, Parvaneh, Nima, Rosenzweig, Sergio, Barbouche, Ridha, Pedraza, Sigifredo, Lau, Yu Lung, Ehlayel, Mohammad S., Fieschi, Claire, Abel, Laurent, Sanal, Ozden, Casanova, Jean-Laurent
Publicado em 2010