Rosenzweig S - Search Results

1

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Among authors: rosenzweig s. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.

2

Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation.

Dupuis S, Dargemont C, Fieschi C, Thomassin N, Rosenzweig S, Harris J, Holland SM, Schreiber RD, Casanova JL. Dupuis S, et al. Among authors: rosenzweig s. Science. 2001 Jul 13;293(5528):300-3. doi: 10.1126/science.1061154. Science. 2001. PMID: 11452125

3

561del4 defines a novel small deletion hotspot in the interferon-gamma receptor 1 chain.

Rosenzweig S, Dorman SE, Roesler J, Palacios J, Zelazko M, Holland SM. Rosenzweig S, et al. Clin Immunol. 2002 Jan;102(1):25-7. doi: 10.1006/clim.2001.5135. Clin Immunol. 2002. PMID: 11781064

4

Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.

El-Hakeh J, Rosenzweig S, Oleastro M, Basack N, Berozdnik L, Molina F, Rivas EM, Zelazko M, Danielian S. El-Hakeh J, et al. Among authors: rosenzweig s. Hum Mutat. 2002 Feb;19(2):186-7. doi: 10.1002/humu.9013. Hum Mutat. 2002. PMID: 11793485

5

Mycobacterial diseases in primary immunodeficiencies.

Reichenbach J, Rosenzweig S, Döffinger R, Dupuis S, Holland SM, Casanova JL. Reichenbach J, et al. Among authors: rosenzweig s. Curr Opin Allergy Clin Immunol. 2001 Dec;1(6):503-11. doi: 10.1097/00130832-200112000-00003. Curr Opin Allergy Clin Immunol. 2001. PMID: 11964733 Review.

6

Congenital defects in the interferon-gamma/interleukin-12 pathway.

Rosenzweig SD, Holland SM. Rosenzweig SD, et al. Curr Opin Pediatr. 2004 Feb;16(1):3-8. doi: 10.1097/00008480-200402000-00003. Curr Opin Pediatr. 2004. PMID: 14758107 Review.

7

Phagocyte immunodeficiencies and their infections.

Rosenzweig SD, Holland SM. Rosenzweig SD, et al. J Allergy Clin Immunol. 2004 Apr;113(4):620-6. doi: 10.1016/j.jaci.2004.02.001. J Allergy Clin Immunol. 2004. PMID: 15100664 Review.

8

Gastrointestinal involvement in chronic granulomatous disease.

Marciano BE, Rosenzweig SD, Kleiner DE, Anderson VL, Darnell DN, Anaya-O'Brien S, Hilligoss DM, Malech HL, Gallin JI, Holland SM. Marciano BE, et al. Among authors: rosenzweig sd. Pediatrics. 2004 Aug;114(2):462-8. doi: 10.1542/peds.114.2.462. Pediatrics. 2004. PMID: 15286231

9

Characterization of a dipeptide motif regulating IFN-gamma receptor 2 plasma membrane accumulation and IFN-gamma responsiveness.

Rosenzweig SD, Schwartz OM, Brown MR, Leto TL, Holland SM. Rosenzweig SD, et al. J Immunol. 2004 Sep 15;173(6):3991-9. doi: 10.4049/jimmunol.173.6.3991. J Immunol. 2004. PMID: 15356148

10

A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states.

Rosenzweig SD, Dorman SE, Uzel G, Shaw S, Scurlock A, Brown MR, Buckley RH, Holland SM. Rosenzweig SD, et al. J Immunol. 2004 Sep 15;173(6):4000-8. doi: 10.4049/jimmunol.173.6.4000. J Immunol. 2004. PMID: 15356149

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