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

Autor: Spivak I; Clinical Immunology, Angioedema and Allergy Institute, The Center for Autoimmune Diseases, Sheba Medical Center, Tel-Hashomer, Israel., Lev A; Cancer Research Center, Pediatric Immunology Unit, Jeffrey Modell Foundation (JMF) Center, Department of Pediatrics, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621, Tel Hashomer, Israel., Simon AJ; Cancer Research Center, Pediatric Immunology Unit, Jeffrey Modell Foundation (JMF) Center, Department of Pediatrics, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621, Tel Hashomer, Israel., Barel O; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel., Somekh I; Cancer Research Center, Pediatric Immunology Unit, Jeffrey Modell Foundation (JMF) Center, Department of Pediatrics, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621, Tel Hashomer, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Somech R; Cancer Research Center, Pediatric Immunology Unit, Jeffrey Modell Foundation (JMF) Center, Department of Pediatrics, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621, Tel Hashomer, Israel. raz.somech@sheba.health.gov.il.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. raz.somech@sheba.health.gov.il.; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. raz.somech@sheba.health.gov.il.

Publikováno v: Immunogenetics [Immunogenetics] 2024 Nov 14; Vol. 77 (1), pp. 2. Date of Electronic Publication: 2024 Nov 14.

A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report

Autor: Aleksandra Szczawinska-Poplonyk, Rafal Ploski, Ewa Bernatowska, Malgorzata Pac

Publikováno v: Frontiers in Immunology, Vol 11 (2020)

Background: The CDC42 (Cell Division Cycle 42) gene product, CDC42, is a member of the family of small Rho GTPases, which are implicated in a broad spectrum of physiological functions in cell cycle regulation, including establishing and controlling o

Externí odkaz: https://doaj.org/article/96d2f77216944de9bd89c4208077895e

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A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report

Autor: Małgorzata Pac, Aleksandra Szczawińska-Popłonyk, Rafał Płoski, Ewa Bernatowska

Publikováno v: Frontiers in Immunology
Frontiers in immunology, 11:318
Frontiers in Immunology, Vol 11 (2020)

BACKGROUND: The CDC42 (Cell Division Cycle 42) gene product, CDC42, is a member of the family of small Rho GTPases, which are implicated in a broad spectrum of physiological functions in cell cycle regulation, including establishing and controlling o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4e5c9ead632caa7a0429f1db31ebd00
http://europepmc.org/articles/PMC7082228