Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry

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dc.authoridDjidjik, Reda/0000-0003-0820-692X
dc.authoridSobh, Ali/0000-0001-7047-076X
dc.authoridTahiat, Azzeddine/0000-0003-3272-8904
dc.authoridBELAID, Brahim/0000-0001-7618-4051
dc.authoridAbolhassani, Hassan/0000-0002-4838-0407
dc.authoridAl-Tamemi, Salem/0000-0002-7232-2629
dc.authorscopusid57203820188
dc.authorscopusid55440385100
dc.authorscopusid24467329000
dc.authorscopusid26658977800
dc.authorscopusid8309372700
dc.authorscopusid34975059200
dc.authorscopusid6701521510
dc.authorwosidSobh, Ali/Q-6160-2016
dc.authorwosidAl-Tamemi, Salem/T-7687-2017
dc.authorwosidAbolhassani, Hassan/B-3465-2014
dc.contributor.authorJamee, Mahnaz
dc.contributor.authorAzizi, Gholamreza
dc.contributor.authorBaris, Safa
dc.contributor.authorKarakoc-Aydiner, Elif
dc.contributor.authorOzen, Ahmet
dc.contributor.authorKilic, Sara S.
dc.contributor.authorKose, Hulya
dc.date.accessioned2023-01-12T19:54:36Z
dc.date.available2023-01-12T19:54:36Z
dc.date.issued2022
dc.departmentN/A/Departmenten_US
dc.description.abstractMonogenic immune dysregulation diseases (MIDD) are caused by defective immunotolerance. This study was designed to increase knowledge on the prevalence and spectrum of MIDDs, genetic patterns, and outcomes in Middle East and North Africa (MENA). MIDD patients from 11 MENA countries (Iran, Turkey, Kuwait, Oman, Algeria, Egypt, United Arab Emirates, Tunisia, Jordan, Qatar, and Azerbaijan) were retrospectively evaluated. 343 MIDD patients (58% males and 42% female) at a median (IQR) age of 101 (42-192) months were enrolled. The most common defective genes were LRBA (23.9%), LYST (8.2%), and RAB27A (7.9%). The most prevalent initial and overall manifestations were infections (32.2% and 75.1%), autoimmunity (18.6% and 41%), and organomegaly (13.3% and 53.8%), respectively. Treatments included immunoglobulin replacement therapy (53%), hematopoietic stem cell transplantation (HSCT) (14.3%), immunosuppressives (36.7%), and surgery (3.5%). Twenty-nine (59.2%) patients survived HSCT. Along with infectious complications, autoimmunity and organomegaly may be the initial or predominant manifestations of MIDD.en_US
dc.description.sponsorshipAlborz University of Medical Sciencesen_US
dc.description.sponsorshipThis work was supported by the vice chancellor for research, Alborz University of Medical Sciences.en_US
dc.identifier.doi10.1016/j.clim.2022.109131
dc.identifier.issn1521-6616
dc.identifier.issn1521-7035
dc.identifier.pmid36179983en_US
dc.identifier.scopus2-s2.0-85139067846en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1016/j.clim.2022.109131
dc.identifier.urihttps://hdl.handle.net/11454/76472
dc.identifier.volume244en_US
dc.identifier.wosWOS:000898579000005en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherAcademic Press Inc Elsevier Scienceen_US
dc.relation.ispartofClinical Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectInborn errors of immunityen_US
dc.subjectPrimary immunodeficiencyen_US
dc.subjectImmune dysregulationen_US
dc.subjectAutoimmune disordersen_US
dc.subjectLymphoproliferationen_US
dc.subjectGeneticen_US
dc.subjectPrimary Immunodeficiencyen_US
dc.subjectInborn-Errorsen_US
dc.subjectMutationsen_US
dc.titleClinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registryen_US
dc.typeArticleen_US

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