Eman Al Idrissi
Overview
Explore the profile of Eman Al Idrissi including associated specialties, affiliations and a list of published articles.
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Articles
5
Citations
266
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0
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Recent Articles
1.
Li Y, Fuhrer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, et al.
Proc Natl Acad Sci U S A
. 2018 Dec;
116(3):970-975.
PMID: 30591564
Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is a critical regulator of cell death and inflammation, but its relevance for human disease pathogenesis remains elusive. Studies of monogenic disorders might provide critical...
2.
Hoyos-Bachiloglu R, Chou J, Sodroski C, Beano A, Bainter W, Angelova M, et al.
J Clin Invest
. 2017 Nov;
127(12):4415-4420.
PMID: 29106381
Primary immunodeficiencies are often monogenic disorders characterized by vulnerability to specific infectious pathogens. Here, we performed whole-exome sequencing of a patient with disseminated Mycobacterium abscessus, Streptococcus viridians bacteremia, and cytomegalovirus...
3.
Grandin V, Sepulveda F, Lambert N, Al Zahrani M, Al Idrissi E, Al-Mousa H, et al.
Hum Mutat
. 2017 Jun;
38(10):1355-1359.
PMID: 28585352
Griscelli syndrome type 2 (GS2) is a rare and often fatal autosomal recessive, hyperinflammatory disorder. It is associated with hypopigmentation of the skin and the hair, resulting in the characteristic...
4.
Al-Mousa H, Abouelhoda M, Monies D, Al-Tassan N, Al-Ghonaium A, Al-Saud B, et al.
J Allergy Clin Immunol
. 2016 Feb;
137(6):1780-1787.
PMID: 26915675
Background: Molecular genetics techniques are an essential diagnostic tool for primary immunodeficiency diseases (PIDs). The use of next-generation sequencing (NGS) provides a comprehensive way of concurrently screening a large number...
5.
Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, et al.
Medicine (Baltimore)
. 2013 Feb;
92(2):109-122.
PMID: 23429356
Autosomal recessive interleukin (IL)-12 p40 (IL-12p40) deficiency is a rare genetic etiology of mendelian susceptibility to mycobacterial disease (MSMD). We report the genetic, immunologic, and clinical features of 49 patients...