کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
11014605 | 1792927 | 2018 | 11 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Advances and highlights in primary immunodeficiencies in 2017
ترجمه فارسی عنوان
پیشرفت و برجسته شدن در کمبود های اولیه ایمنی در سال 2017
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کلمات کلیدی
ICOSFMFHSCTEXTL3CVIDARPCTFHAscl2APDSfollicular helper TActivated phosphoinositide 3-kinase δ syndromeTNFAIP3WESPIDDIL2RGBACH2PI3Kδinducible T-cell costimulatorPIK3CDIKZF1Regulated in development and DNA damage responses 1Redd1ICOSLSCIDGOFCHHCRISPRCRISPR-associated protein 9Cas9TregNF-κBCGDnatural killer - (سلول های) کشنده طبیعیBtk - BTKCartilage-hair hypoplasia - hypoplasia موی غضروفیADAM - آدامadenosine deaminase - آدنوزین دآمینازSTAT - آمارImmunology - ایمونولوژیIntravenous immunoglobulin - اﯾﻤﻮﻧﻮﮔﻠﻮﺑﻮﻟﯿﻦ ورﯾﺪیBruton tyrosine kinase - بروتون تیروزین کینازGain of function - به دست آوردن عملکردclustered regularly interspaced short palindromic repeats - به طور منظم تکرار پینگندرومی کوتاه مدت میان دو طرف تقسیم می شودPrimary immunodeficiency disease - بیماری ابتلا به کمبود ایمنیchronic granulomatous disease - بیماری گرانولوماتوز مزمنFamilial Mediterranean fever - تب مادری تبارa disintegrin and metalloprotease - تخریب و متالوپروتئازWhole-exome sequencing - توالی کامل exomeautoimmunity - خودایمنیCMV - سیتومگالوویروسcytomegalovirus - سیتومگالوویروسNewborn screening - غربالگری نوزادانnuclear factor κB - فاکتور هسته ای κBLAD - لادوSignal transducer and activator of transcription - مبدل سیگنال و فعال کننده رونویسیRegulatory T - مقررات TADA - وجود داردHematopoietic stem cell transplantation - پیوند مغز استخوانGene therapy - ژن درمانیprimary immunodeficiency - کمبود ایمنی اولیهCommon variable immunodeficiency - کمبود ایمنی متغیر مشترکsevere combined immunodeficiency - کمبود شدید مصدومLeukocyte adhesion deficiency - کمبود چسبندگی لکوسیت
موضوعات مرتبط
علوم زیستی و بیوفناوری
ایمنی شناسی و میکروب شناسی
ایمونولوژی
چکیده انگلیسی
This manuscript reviews selected topics in primary immunodeficiency diseases (PIDDs) published in 2017. These include (1) the role of follicular T cells in the differentiation of B cells and development of optimal antibody responses; (2) impaired nuclear factor κB subunit 1 signaling in the pathogenesis of common variable immunodeficiency, revealing an association between impaired B-cell maturation and development of inflammatory conditions; (3) autoimmune and inflammatory manifestations in patients with PIDDs in T- and B-cell deficiencies, as well as in neutrophil disorders; (4) newly described gene defects causing PIDDs, including exostosin-like 3 (EXTL3), TNF-α-induced protein 3 (TNFAIP3 [A20]), actin-related protein 2/3 complex-subunit 1B (ARPC1B), v-Rel avian reticuloendotheliosis viral oncogene homolog A (RELA), hypoxia upregulated 1 (HYOU1), BTB domain and CNC homolog 2 (BACH2), CD70, and CD55; (5) use of rapamycin and the phosphoinositide 3-kinase inhibitor leniolisib to reduce autoimmunity and regulate B-cell function in the activated phosphoinositide 3-kinase δ syndrome; (6) improved outcomes in hematopoietic stem cell transplantation for severe combined immunodeficiency (SCID) in the last decade, with an overall 2-year survival of 90% in part caused by early diagnosis through implementation of universal newborn screening; (7) demonstration of the efficacy of lentiviral vector-mediated gene therapy for patients with adenosine deaminase-deficient SCID; (8) the promise of gene editing for PIDDs using CRISPR/Cas9 and zinc finger nuclease technology for SCID and chronic granulomatous disease; and (9) the efficacy of thymus transplantation in Europe, although associated with an unexpected high incidence of autoimmunity. The remarkable progress in the understanding and management of PIDDs reflects the current interest in this area and continues to improve the care of immunodeficient patients.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Allergy and Clinical Immunology - Volume 142, Issue 4, October 2018, Pages 1041-1051
Journal: Journal of Allergy and Clinical Immunology - Volume 142, Issue 4, October 2018, Pages 1041-1051
نویسندگان
Javier MD, PhD, Morton J. MD,