Sergio Rosenzweig
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Explore the profile of Sergio Rosenzweig including associated specialties, affiliations and a list of published articles.
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21
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1219
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Recent Articles
11.
Lisco A, Wong C, Price S, Ye P, Niemela J, Anderson M, et al.
Front Immunol
. 2019 Jun;
10:1193.
PMID: 31191551
Autoimmune lymphoproliferative syndrome (ALPS) is caused by germline or somatic loss of function mutations resulting in impaired apoptosis and consequent expansion of T-lymphocytes causing organomegaly and autoimmune anemia, neutropenia and...
12.
Kohler S, Carmody L, Vasilevsky N, Jacobsen J, Danis D, Gourdine J, et al.
Nucleic Acids Res
. 2018 Nov;
47(D1):D1018-D1027.
PMID: 30476213
The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its...
13.
Vargas-Hernandez A, Mace E, Zimmerman O, Zerbe C, Freeman A, Rosenzweig S, et al.
J Allergy Clin Immunol
. 2017 Nov;
141(6):2142-2155.e5.
PMID: 29111217
Background: Natural killer (NK) cells are critical innate effector cells whose development is dependent on the Janus kinase-signal transducer and activator of transcription (STAT) pathway. NK cell deficiency can result...
14.
Rocha Y, Lopez J, Orrego J, Coll Y, Karduss A, Rosenzweig S, et al.
Biomedica
. 2016 Sep;
36(2):204-12.
PMID: 27622481
Introduction: Chronic granulomatous disease is a primary immunodeficiency that results from mutations in proteins of the NADPH oxidase system that affect the microbicidal activity of phagocytes. Immune reconstitution by hematopoietic...
15.
Doshi A, Ryu J, Thornburg C, Hershey D, Cherry R, Milligan K, et al.
Ann Allergy Asthma Immunol
. 2016 Sep;
117(3):221-6.
PMID: 27613453
No abstract available.
16.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Becerra J, et al.
Blood
. 2016 Apr;
127(25):3154-64.
PMID: 27114460
Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with...
17.
de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, et al.
Medicine (Baltimore)
. 2010 Nov;
89(6):381-402.
PMID: 21057261
Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30...
18.
Basile N, Danielian S, Oleastro M, Rosenzweig S, Prieto E, Rossi J, et al.
J Clin Immunol
. 2008 Aug;
29(1):123-9.
PMID: 18677443
Introduction: Argentina has a large number of patients with definite diagnosis of X-linked agammaglobulinemia reported in the Latin-American registry. Forty-nine of them were seen in our referral pediatric hospital, between...
19.
Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, et al.
Nat Genet
. 2005 Jun;
37(7):692-700.
PMID: 15924140
Mutations involving gains of glycosylation have been considered rare, and the pathogenic role of the new carbohydrate chains has never been formally established. We identified three children with mendelian susceptibility...
20.
Danielian S, El-Hakeh J, Basilico G, Oleastro M, Rosenzweig S, Feldman G, et al.
Hum Mutat
. 2003 Mar;
21(4):451.
PMID: 12655572
The block in differentiation from pro-B to pre-B cells results in a selective defect in the humoral immune response characteristic of human X-linked agammaglobulinemia (XLA). Mutations of Bruton tyrosine kinase...