Búsqueda | Biblioteca Virtual en Salud

1.

Human MD2 deficiency-an inborn error of immunity with pleiotropic features.

Li, Yue; Yu, Ziqi; Schenk, Madlin; Lagovsky, Irena; Illig, David; Walz, Christoph; Rohlfs, Meino; Conca, Raffaele; Muise, Aleixo M; Snapper, Scott B; Uhlig, Holm H; Garty, Ben Zion; Klein, Christoph; Kotlarz, Daniel.

J Allergy Clin Immunol ; 151(3): 791-796.e7, 2023 03.

Artículo en Inglés | MEDLINE | ID: mdl-36462957

2.

Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.

Mohamad, Janan; Samuelov, Liat; Malchin, Natalia; Rabinowitz, Tom; Assaf, Sari; Malki, Liron; Malovitski, Kiril; Israeli, Shirli; Grafi-Cohen, Meital; Bitterman-Deutsch, Ora; Molho-Pessach, Vered; Cohen-Barak, Eran; Bach, Gideon; Garty, Ben Zion; Bergman, Reuven; Harel, Avikam; Nanda, Arti; Lestringant, Giles G; McGrath, John; Shalev, Stavit; Shomron, Noam; Mashiah, Jacob; Eskin-Schwartz, Marina; Sprecher, Eli; Sarig, Ofer.

Exp Dermatol ; 30(9): 1290-1297, 2021 09.

Artículo en Inglés | MEDLINE | ID: mdl-33786896

3.

[TRENDS IN HOSPITALIZATION OF CHILDREN WITH HENOCH -SCHONLEIN PURPURA].

Atias, Yifat; Garty, Ben Zion; Ben Amitai, Dan.

Harefuah ; 160(6): 349-354, 2021 Jun.

Artículo en Hebreo | MEDLINE | ID: mdl-34160149

4.

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.

Somech, Raz; Lev, Atar; Lee, Yu Nee; Simon, Amos J; Barel, Ortal; Schiby, Ginette; Avivi, Camila; Barshack, Iris; Rhodes, Michele; Yin, Jiejing; Wang, Minshi; Yang, Yibin; Rhodes, Jennifer; Marcus, Nufar; Garty, Ben-Zion; Stein, Jerry; Amariglio, Ninette; Rechavi, Gideon; Wiest, David L; Zhang, Yong.

J Immunol ; 199(12): 4036-4045, 2017 12 15.

Artículo en Inglés | MEDLINE | ID: mdl-29127144

5.

[THE DISEASE OF JOB].

Garty, Ben Zion.

Harefuah ; 158(9): 612-614, 2019 Sep.

Artículo en Hebreo | MEDLINE | ID: mdl-31507115

6.

IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans.

Isnardi, Isabelle; Ng, Yen-Shing; Srdanovic, Iva; Motaghedi, Roja; Rudchenko, Sergei; von Bernuth, Horst; Zhang, Shen-Ying; Puel, Anne; Jouanguy, Emmanuelle; Picard, Capucine; Garty, Ben-Zion; Camcioglu, Yildiz; Doffinger, Rainer; Kumararatne, Dinakantha; Davies, Graham; Gallin, John I; Haraguchi, Soichi; Day, Noorbibi K; Casanova, Jean-Laurent; Meffre, Eric.

Immunity ; 29(5): 746-57, 2008 Nov 14.

Artículo en Inglés | MEDLINE | ID: mdl-19006693

7.

Serum Tumor Necrosis Factor-Alpha Levels in Children with Nephrotic Syndrome: A Pilot Study.

Weissbach, Avichai; Garty, Ben Zion; Lagovsky, Irina; Krause, Irit; Davidovits, Miriam.

Isr Med Assoc J ; 19(1): 30-33, 2017 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-28457111

8.

A congenital neutrophil defect syndrome associated with mutations in VPS45.

Vilboux, Thierry; Lev, Atar; Malicdan, May Christine V; Simon, Amos J; Järvinen, Päivi; Racek, Tomas; Puchalka, Jacek; Sood, Raman; Carrington, Blake; Bishop, Kevin; Mullikin, James; Huizing, Marjan; Garty, Ben Zion; Eyal, Eran; Wolach, Baruch; Gavrieli, Ronit; Toren, Amos; Soudack, Michalle; Atawneh, Osama M; Babushkin, Tatiana; Schiby, Ginette; Cullinane, Andrew; Avivi, Camila; Polak-Charcon, Sylvie; Barshack, Iris; Amariglio, Ninette; Rechavi, Gideon; van der Werff ten Bosch, Jutte; Anikster, Yair; Klein, Christoph; Gahl, William A; Somech, Raz.

N Engl J Med ; 369(1): 54-65, 2013 Jul 04.

Artículo en Inglés | MEDLINE | ID: mdl-23738510

9.

Nonbullous Erythema Multiforme in Hospitalized Children: A 10-Year Survey.

Keller, Noy; Gilad, Oded; Marom, Daphna; Marcus, Nufar; Garty, Ben Zion.

Pediatr Dermatol ; 32(5): 701-3, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-26223537

10.

Medical Errors According to Maimonides' Treatise on Asthma.

Garty, Ben-Zion.

Isr Med Assoc J ; 11(22): 724-725, 2020 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-33249797

11.

Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients.

Wolach, Ofir; Kuijpers, Taco; Ben-Ari, Josef; Gavrieli, Ronit; Feinstein-Goren, Neta; Alders, Marielle; Garty, Ben Zion; Wolach, Baruch.

J Clin Immunol ; 34(2): 163-70, 2014 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-24452316

12.

IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients.

Weller, Sandra; Bonnet, Mélanie; Delagreverie, Héloïse; Israel, Laura; Chrabieh, Maya; Maródi, László; Rodriguez-Gallego, Carlos; Garty, Ben-Zion; Roifman, Chaim; Issekutz, Andrew C; Zitnik, Simona Eva; Hoarau, Cyrille; Camcioglu, Yildiz; Vasconcelos, Júlia; Rodrigo, Carlos; Arkwright, Peter D; Cerutti, Andrea; Meffre, Eric; Zhang, Shen-Ying; Alcais, Alexandre; Puel, Anne; Casanova, Jean-Laurent; Picard, Capucine; Weill, Jean-Claude; Reynaud, Claude-Agnès.

Blood ; 120(25): 4992-5001, 2012 Dec 13.

Artículo en Inglés | MEDLINE | ID: mdl-23002119

13.

Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome.

Israeli, Shirli; Sarig, Ofer; Garty, Ben Zion; Indelman, Margarita; Bergman, Reuven; Sprecher, Eli; Goldberg, Ilan.

Dermatology ; 228(2): 183-8, 2014.

Artículo en Inglés | MEDLINE | ID: mdl-24577329

14.

Thymic function in MHC class II-deficient patients.

Lev, Atar; Simon, Amos J; Broides, Arnon; Levi, Jacob; Garty, Ben Zion; Rosenthal, Ester; Amariglio, Ninette; Rechavi, Gideon; Somech, Raz.

J Allergy Clin Immunol ; 131(3): 831-9, 2013 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-23228244

15.

Medical And Surgical Management Of Orbital Cellulitis In Children.

Friling, Ronit; Garty, Ben-Zion; Kornreich, Liora; Scheurman, Oded; Hasanreisoglu, Murat; Taler, Irit; Amir, Jacob; Livni, Gilat; Snir, Moshe.

Folia Med (Plovdiv) ; 56(4): 253-8, 2014.

Artículo en Inglés | MEDLINE | ID: mdl-26444354

16.

IL-12Rß1 deficiency: mutation update and description of the IL12RB1 variation database.

van de Vosse, Esther; Haverkamp, Margje H; Ramirez-Alejo, Noe; Martinez-Gallo, Mónica; Blancas-Galicia, Lizbeth; Metin, Ayse; Garty, Ben Zion; Sun-Tan, Çagman; Broides, Arnon; de Paus, Roelof A; Keskin, Özlem; Çagdas, Deniz; Tezcan, Ilhan; Lopez-Ruzafa, Encarna; Aróstegui, Juan I; Levy, Jacov; Espinosa-Rosales, Francisco J; Sanal, Özden; Santos-Argumedo, Leopoldo; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie; van Dissel, Jaap T; Bustamante, Jacinta.

Hum Mutat ; 34(10): 1329-39, 2013 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-23864330

17.

Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity.

Ku, Cheng-Lung; von Bernuth, Horst; Picard, Capucine; Zhang, Shen-Ying; Chang, Huey-Hsuan; Yang, Kun; Chrabieh, Maya; Issekutz, Andrew C; Cunningham, Coleen K; Gallin, John; Holland, Steven M; Roifman, Chaim; Ehl, Stephan; Smart, Joanne; Tang, Mimi; Barrat, Franck J; Levy, Ofer; McDonald, Douglas; Day-Good, Noorbibi K; Miller, Richard; Takada, Hidetoshi; Hara, Toshiro; Al-Hajjar, Sami; Al-Ghonaium, Abdulaziz; Speert, David; Sanlaville, Damien; Li, Xiaoxia; Geissmann, Frédéric; Vivier, Eric; Maródi, László; Garty, Ben-Zion; Chapel, Helen; Rodriguez-Gallego, Carlos; Bossuyt, Xavier; Abel, Laurent; Puel, Anne; Casanova, Jean-Laurent.

J Exp Med ; 204(10): 2407-22, 2007 Oct 01.

Artículo en Inglés | MEDLINE | ID: mdl-17893200

18.

Reduced bone density in patients with autosomal dominant hyper-IgE syndrome.

Scheuerman, Oded; Hoffer, Vered; Cohen, Avner Herman; Woellner, Cristina; Grimbacher, Bodo; Garty, Ben-Zion.

J Clin Immunol ; 33(5): 903-8, 2013 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-23606327

19.

Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1.

Lindh, Emma; Brännström, Johan; Jones, Petra; Wermeling, Fredrik; Hässler, Signe; Betterle, Corrado; Garty, Ben Zion; Stridsberg, Mats; Herrmann, Björn; Karlsson, Mikael C I; Winqvist, Ola.

J Autoimmun ; 42: 1-6, 2013 May.

Artículo en Inglés | MEDLINE | ID: mdl-23122533

20.

Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study.

Somech, Raz; Lev, Atar; Simon, Amos J; Korn, David; Garty, Ben Zion; Amariglio, Ninette; Rechavi, Gideon; Almashanu, Shlomo; Zlotogora, Joel; Etzioni, Amos.

Isr Med Assoc J ; 15(8): 404-9, 2013 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-24079059

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