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

Genetic Terminal Complement Deficiency in Israeli Bedouins With Kidney Failure

以色列贝都因人肾衰竭中的遗传性末端补体缺陷

Chowers, Guy; Ben-Ruby, Dror; Atias-Varon, Danit; Shlomovitz, Omer; Slabodnik-Kaner, Keren; Kagan, Maayan; Avayou, Shany; Romanjuk, Elvira; Rogachev, Boris; Haviv, Yosef S; Birk, Ohad S; Hadar, Noam; Bathish, Younes; Barshack, Iris; Volkov, Alexander; Avivi, Camila; Pavlovsky, Anna; Haskin, Orly; Simon, Amos J; Glick-Saar, Efrat; Ostrovsky, Alina; Assi, Mawada; Schreiber, Ruth; Levin, Dana; Yagil, Yoram; Awawdeh, Mohammad; Skorecki, Karl; Dominissini, Dan; Shnaider, Alla; Vivante, Asaf

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

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

CD137 缺陷会导致免疫失调,并易导致淋巴瘤发生。

Somekh, Ido; Thian, Marini; Medgyesi, David; Gülez, Nesrin; Magg, Thomas; Gallón Duque, Alejandro; Stauber, Tali; Lev, Atar; Genel, Ferah; Unal, Ekrem; Simon, Amos J; Lee, Yu Nee; Kalinichenko, Artem; Dmytrus, Jasmin; Kraakman, Michael J; Schiby, Ginette; Rohlfs, Meino; Jacobson, Jeffrey M; Özer, Erdener; Akcal, Ömer; Conca, Raffaele; Patiroglu, Türkan; Karakukcu, Musa; Ozcan, Alper; Shahin, Tala; Appella, Eliana; Tatematsu, Megumi; Martinez-Jaramillo, Catalina; Chinn, Ivan K; Orange, Jordan S; Trujillo-Vargas, Claudia Milena; Franco, José Luis; Hauck, Fabian; Somech, Raz; Klein, Christoph; Boztug, Kaan

Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease).

Fetuin-A 缺乏与婴儿皮质骨肥厚症(Caffey 病)有关

Merdler-Rabinowicz Rona, Grinberg Anna, Jacobson Jeffrey M, Somekh Ido, Klein Christoph, Lev Atar, Ihsan Salama, Habib Adib, Somech Raz, Simon Amos J