日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Investigating concomitant RAG-2 and LRBA mutations in SCID and autoimmunity

研究重症联合免疫缺陷病和自身免疫性疾病中 RAG-2 和 LRBA 基因的伴随突变

Spivak, Ilia; Frizinsky, Shirly; Mandola, Amarilla; Lev, Atar; Simon, Amos J; Barel, Ortal; Vishnevskia-Dai, Vicktoria; Somech, Raz; Somekh, Ido

NDUFS4, a mitochondrial complex I subunit, is essential for T-cell metabolic fitness and immune function.

NDUFS4 是线粒体复合物 I 的一个亚基,对 T 细胞的代谢适应性和免疫功能至关重要。

Shamriz Oded, Bar-On Zahala, Yosef Omri, Cohen-Daniel Leonor, Sheer Ayelet, Reuven Or, Salaymeh Wajeeh, Saragovi Amijai, Somech Raz, Lev Atar, Mor-Shaked Hagar, Tal Yuval, Fattal-Valevski Aviva, Edvardson Simon, Berger Michael

RELA Haploinsufficiency Manifesting as an Atypical Phenotype of Crohn's Disease

RELA单倍体功能不全表现为克罗恩病的非典型表型

Tal, Noa; Baram, Liran; Gehlhaar, Arne; Gu, Weihong; Guo, Siqi; Santiago, Eduardo Gonzalez; Lev, Atar; Barel, Ortal; Shamir, Raanan; Somech, Raz; Konnikova, Liza; Shouval, Dror S

Case Report: Clinical manifestations of uncommon monogenic disorders: revisiting activated phosphoinositide 3-kinase delta syndrome 2

病例报告:罕见单基因疾病的临床表现:重新审视活化磷脂酰肌醇3-激酶δ综合征2

Shamriz, Oded; Mandola, Amarilla; Simon, Amos J; Lev, Atar; Attal, Pierre; Nadler, Chen; Barel, Ortal; Khavkin, Yulia; Eisenberg, Rachel; Somech, Raz; Toker, Ori

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

扩展 PRAAS 谱系:6 例 SCID-Omenn 综合征患儿中免疫蛋白酶体亚基 β 型 10 的新生突变

van der Made, Caspar I; Kersten, Simone; Chorin, Odelia; Engelhardt, Karin R; Ramakrishnan, Gayatri; Griffin, Helen; Schim van der Loeff, Ina; Venselaar, Hanka; Rothschild, Annick Raas; Segev, Meirav; Schuurs-Hoeijmakers, Janneke H M; Mantere, Tuomo; Essers, Rick; Esteki, Masoud Zamani; Avital, Amir L; Loo, Peh Sun; Simons, Annet; Pfundt, Rolph; Warris, Adilia; Seyger, Marieke M; van de Veerdonk, Frank L; Netea, Mihai G; Slatter, Mary A; Flood, Terry; Gennery, Andrew R; Simon, Amos J; Lev, Atar; Frizinsky, Shirley; Barel, Ortal; van der Burg, Mirjam; Somech, Raz; Hambleton, Sophie; Henriet, Stefanie S V; Hoischen, Alexander

A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy

FNIP1基因的一种新突变与综合征性免疫缺陷和心肌病相关。

Spivak, Ilia; Lev, Atar; Simon, Amos J; Barel, Ortal; Somekh, Ido; Somech, Raz

SARS-CoV-2 spike antibody concentration in gamma globulin products from high-prevalence COVID-19 countries are transmitted to X-linked agammaglobulinemia patients

来自新冠肺炎高发国家的丙种球蛋白产品中SARS-CoV-2刺突蛋白抗体浓度会传播给X连锁无丙种球蛋白血症患者。

Raphael, Allon; Shamriz, Oded; Tvito, Ariella; Magen, Sophie; Goldberg, Shmuel; Megged, Orli; Lev, Atar; Simon, Amos J; Tal, Yuval; Somech, Raz; Eisenberg, Rachel; Toker, Ori

A horse or a zebra? Unusual manifestations of common cutaneous infections in primary immunodeficiency pediatric patients

是马还是斑马?原发性免疫缺陷患儿常见皮肤感染的异常表现

Ollech, Ayelet; Simon, Amos J; Lev, Atar; Stauber, Tali; Sherman, Gilad; Solomon, Michal; Barzilai, Aviv; Somech, Raz; Greenberger, Shoshana

Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires

一种与重症联合免疫缺陷、小头畸形以及T细胞和B细胞受体库异常相关的新型NHEJ1致病变异

Frizinsky, Shirly; Rechavi, Erez; Barel, Ortal; Lee, Yu Nee; Simon, Amos J; Lev, Atar; Stauber, Tali; Adam, Etai; Somech, Raz

Trough Concentrations of Specific Antibodies in Primary Immunodeficiency Patients Receiving Intravenous Immunoglobulin Replacement Therapy

接受静脉注射免疫球蛋白替代疗法的原发性免疫缺陷患者体内特异性抗体的谷浓度

Hassin, Ori; Abu Freih, Yahya; Hazan, Ran; Lev, Atar; Zrihen, Keren S; Somech, Raz; Broides, Arnon; Nahum, Amit