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Page 1
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
Al-Mousa H, Abouelhoda M, Monies DM, Al-Tassan N, Al-Ghonaium A, Al-Saud B, Al-Dhekri H, Arnaout R, Al-Muhsen S, Ades N, Elshorbagi S, Al Gazlan S, Sheikh F, Dasouki M, El-Baik L, Elamin T, Jaber A, Kheir O, El-Kalioby M, Subhani S, Al Idrissi E, Al-Zahrani M, Alhelale M, Alnader N, Al-Otaibi A, Kattan R, Al Abdelrahman K, Al Breacan MM, Bin Humaid FS, Wakil SM, Alzayer F, Al-Dusery H, Faquih T, Al-Hissi S, Meyer BF, Hawwari A. Al-Mousa H, et al. Among authors: al idrissi e. J Allergy Clin Immunol. 2016 Jun;137(6):1780-1787. doi: 10.1016/j.jaci.2015.12.1310. Epub 2016 Feb 23. J Allergy Clin Immunol. 2016. PMID: 26915675
Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.
Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, AlSum Z, Al-Jumaah S, Al-Hajjar S, Frayha H, Al-Mousa H, Ben-Mustapha I, Adimi P, Feinberg J, de Suremain M, Jannière L, Filipe-Santos O, Mansouri N, Stephan JL, Nallusamy R, Kumararatne DS, Bloorsaz MR, Ben-Ali M, Elloumi-Zghal H, Chemli J, Bouguila J, Bejaoui M, Alaki E, AlFawaz TS, Al Idrissi E, ElGhazali G, Pollard AJ, Murugasu B, Wah Lee B, Halwani R, Al-Zahrani M, Al Shehri MA, Al-Zahrani M, Bin-Hussain I, Mahdaviani SA, Parvaneh N, Abel L, Mansouri D, Barbouche R, Al-Muhsen S, Casanova JL. Prando C, et al. Among authors: al idrissi e. Medicine (Baltimore). 2013 Mar;92(2):109-122. doi: 10.1097/MD.0b013e31828a01f9. Medicine (Baltimore). 2013. PMID: 23429356 Free PMC article.
Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.
Conti F, Lugo-Reyes SO, Blancas Galicia L, He J, Aksu G, Borges de Oliveira E Jr, Deswarte C, Hubeau M, Karaca N, de Suremain M, Guérin A, Baba LA, Prando C, Guerrero GG, Emiroglu M, Öz FN, Yamazaki Nakashimada MA, Gonzalez Serrano E, Espinosa S, Barlan I, Pérez N, Regairaz L, Guidos Morales HE, Bezrodnik L, Di Giovanni D, Dbaibo G, Ailal F, Galicchio M, Oleastro M, Chemli J, Danielian S, Perez L, Ortega MC, Soto Lavin S, Hertecant J, Anal O, Kechout N, Al-Idrissi E, ElGhazali G, Bondarenko A, Chernyshova L, Ciznar P, Herbigneaux RM, Diabate A, Ndaga S, Konte B, Czarna A, Migaud M, Pedraza-Sánchez S, Zaidi MB, Vogt G, Blanche S, Benmustapha I, Mansouri D, Abel L, Boisson-Dupuis S, Mahlaoui N, Bousfiha AA, Picard C, Barbouche R, Al-Muhsen S, Espinosa-Rosales FJ, Kütükçüler N, Condino-Neto A, Casanova JL, Bustamante J. Conti F, et al. Among authors: al idrissi e. J Allergy Clin Immunol. 2016 Jul;138(1):241-248.e3. doi: 10.1016/j.jaci.2015.11.041. Epub 2016 Feb 28. J Allergy Clin Immunol. 2016. PMID: 26936803
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
Grandin V, Sepulveda FE, Lambert N, Al Zahrani M, Al Idrissi E, Al-Mousa H, Almanjomi F, Al-Ghonaium A, K Habazi M, A Alghamdi H, Picard C, Bole-Feysot C, Nitschke P, Ménasché G, de Saint Basile G. Grandin V, et al. Among authors: al idrissi e. Hum Mutat. 2017 Oct;38(10):1355-1359. doi: 10.1002/humu.23274. Epub 2017 Jun 19. Hum Mutat. 2017. PMID: 28585352
A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations.
Hoyos-Bachiloglu R, Chou J, Sodroski CN, Beano A, Bainter W, Angelova M, Al Idrissi E, Habazi MK, Alghamdi HA, Almanjomi F, Al Shehri M, Elsidig N, Alaa Eldin M, Knipe DM, AlZahrani M, Geha RS. Hoyos-Bachiloglu R, et al. Among authors: al idrissi e. J Clin Invest. 2017 Dec 1;127(12):4415-4420. doi: 10.1172/JCI93486. Epub 2017 Nov 6. J Clin Invest. 2017. PMID: 29106381 Free PMC article. Clinical Trial.
Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features.
Alghamdi HA, Tashkandi SA, Alidrissi EM, Aledielah RD, AlSaidi KA, Alharbi ES, Habazi MK, Alzahrani MS. Alghamdi HA, et al. J Clin Immunol. 2018 Nov;38(8):847-853. doi: 10.1007/s10875-018-0569-9. Epub 2018 Dec 3. J Clin Immunol. 2018. PMID: 30511102 No abstract available.
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, Alenezi N, AlGhamdi HA, AlJubab HA, Al-Hussaini AA, AlManjomi F, Alsaad AB, Alsaleem B, Andijani AA, Asery A, Ballourah W, Bleeker-Rovers CP, van Deuren M, van der Flier M, Gerkes EH, Gilissen C, Habazi MK, Hehir-Kwa JY, Henriet SS, Hoppenreijs EP, Hortillosa S, Kerkhofs CH, Keski-Filppula R, Lelieveld SH, Lone K, MacKenzie MA, Mensenkamp AR, Moilanen J, Nelen M, Ten Oever J, Potjewijd J, van Paassen P, Schuurs-Hoeijmakers JHM, Simon A, Stokowy T, van de Vorst M, Vreeburg M, Wagner A, van Well GTJ, Zafeiropoulou D, Zonneveld-Huijssoon E, Veltman JA, van Zelst-Stams WAG, Faqeih EA, van de Veerdonk FL, Netea MG, Hoischen A. Arts P, et al. Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3. Genome Med. 2019. PMID: 31203817 Free PMC article.
Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation.
Cuchet-Lourenço D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, Ceron-Gutierrez L, Bacon CM, Hackett S, Alsaleem B, Maes M, Gaspar M, Alisaac A, Goss E, AlIdrissi E, Siegmund D, Wajant H, Kumararatne D, AlZahrani MS, Arkwright PD, Abinun M, Doffinger R, Nejentsev S. Cuchet-Lourenço D, et al. Science. 2018 Aug 24;361(6404):810-813. doi: 10.1126/science.aar2641. Epub 2018 Jul 19. Science. 2018. PMID: 30026316 Free PMC article.
Invasive mucormycosis in chronic granulomatous disease.
Al-Otaibi AM, Al-Shahrani DA, Al-Idrissi EM, Al-Abdely HM. Al-Otaibi AM, et al. Among authors: al idrissi em. Saudi Med J. 2016 May;37(5):567-9. doi: 10.15537/smj.2016.5.14239. Saudi Med J. 2016. PMID: 27146621 Free PMC article.
13 results