عنوان

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

پدید آورنده

Dobbs, Kerry; Tabellini, Giovanna; Calzoni, Enrica; Patrizi, Ornella; Martinez, Paula; Giliani, Silvia Clara; Moratto, Daniele; Al-Herz, Waleed; Cancrini, Caterina; Cowan, Morton; Bleesing, Jacob; Booth, Claire; Buchbinder, David; Burns, Siobhan O; Chatila, Talal A; Chou, Janet; Daza-Cajigal, Vanessa; Ott de Bruin, Lisa M; et al.

موضوع

رده

کتابخانه

مرکز و کتابخانه مطالعات اسلامی به زبان‌های اروپایی

محل استقرار

استان: قم ـ شهر: قم

تماس با کتابخانه : 32910706-025

شماره کتابشناسی ملی

شماره

LA87q8z6jn

عنوان و نام پديدآور

عنوان اصلي

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

نام عام مواد

[Article]

نام نخستين پديدآور

Dobbs, Kerry; Tabellini, Giovanna; Calzoni, Enrica; Patrizi, Ornella; Martinez, Paula; Giliani, Silvia Clara; Moratto, Daniele; Al-Herz, Waleed; Cancrini, Caterina; Cowan, Morton; Bleesing, Jacob; Booth, Claire; Buchbinder, David; Burns, Siobhan O; Chatila, Talal A; Chou, Janet; Daza-Cajigal, Vanessa; Ott de Bruin, Lisa M; et al.

یادداشتهای مربوط به خلاصه یا چکیده

متن يادداشت

Mutations of the recombinase-activating genes 1 and 2 (RAG1 and RAG2) in humans are associated with a broad range of phenotypes. For patients with severe clinical presentation, hematopoietic stem cell transplantation (HSCT) represents the only curative treatment; however, high rates of graft failure and incomplete immune reconstitution have been observed, especially after unconditioned haploidentical transplantation. Studies in mice have shown that Rag-/- natural killer (NK) cells have a mature phenotype, reduced fitness, and increased cytotoxicity. We aimed to analyze NK cell phenotype and function in patients with mutations in RAG and in non-homologous end joining (NHEJ) genes. Here, we provide evidence that NK cells from these patients have an immature phenotype, with significant expansion of CD56bright CD16-/int CD57- cells, yet increased degranulation and high perforin content. Correlation was observed between in vitro recombinase activity of the mutant proteins, NK cell abnormalities, and in vivo clinical phenotype. Addition of serotherapy in the conditioning regimen, with the aim of depleting the autologous NK cell compartment, may be important to facilitate engraftment and immune reconstitution in patients with RAG and NHEJ defects treated by HSCT.

مجموعه

تاريخ نشر

2017

عنوان

UCSF

دسترسی و محل الکترونیکی

نام الکترونيکي

اطلاعات رکورد کتابشناسی

نوع ماده

[Article]

کد کاربرگه

275578

اطلاعات دسترسی رکورد

سطح دسترسي

تكميل شده

عنوان Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.