Výsledky vyhledávání - "Reticular dysgenesis"

Akademický článek

Case Report: Profound newborn leukopenia related to a novel RAC2 variant

Autor: Geoffrey Hall, Ágnes Donkó, Cristina Pratt, Julie J. Kim-Chang, Paul L. Martin, Amy P. Stallings, John W. Sleasman, Steven M. Holland, Amy P. Hsu, Thomas L. Leto, Talal Mousallem

Publikováno v: Frontiers in Pediatrics, Vol 12 (2024)

We report the case of a 1-week-old male born full-term, who had two inconclusive severe combined immunodeficiency (SCID) newborn screens and developed scalp cellulitis and Escherichia coli bacteremia. He did not pass early confirmatory hearing screen

Externí odkaz: https://doaj.org/article/378194d6bbd641198e83f5f2775078f5

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Akademický článek

A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress

Autor: Alberto Rissone, Erin Jimenez, Kevin Bishop, Blake Carrington, Claire Slevin, Stephen M. Wincovitch, Raman Sood, Fabio Candotti, Shawn M. Burgess

Publikováno v: Disease Models & Mechanisms, Vol 12, Iss 12 (2019)

Mutations in the gene AK2 are responsible for reticular dysgenesis (RD), a rare and severe form of primary immunodeficiency in children. RD patients have a severely shortened life expectancy and without treatment die, generally from sepsis soon after

Externí odkaz: https://doaj.org/article/e8c09681320d4b5b98b218bcea9563f8

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The Effect of Heterozygous Mutation of Adenylate Kinase 2 Gene on Neutrophil Differentiation

Autor: Taigo Horiguchi, Ayako Tanimura, Keiko Miyoshi, Hiroko Hagita, Hisanori Minami, Takafumi Noma

Publikováno v: International Journal of Molecular Sciences; Volume 23; Issue 24; Pages: 16089

Mitochondrial ATP production plays an important role in most cellular activities, including growth and differentiation. Previously we reported that Adenylate kinase 2 (AK2) is the main ADP supplier in the mitochondrial intermembrane space in hematopo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fea2f382953458bafd1fc28a3b63103a
https://pubmed.ncbi.nlm.nih.gov/36555730

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Reticular Dysgenesis: A Rare Immunodeficiency in a Neonate With Cytopenias and Bacterial Sepsis

Autor: Glaivy Batsuli, Sanyukta K. Janardan, Heidi Karpen, Anthony Ross, Bojana Pencheva, Heather Rytting

Publikováno v: Pediatrics.

Severe combined immunodeficiency (SCID) consists of a group of disorders defined by abnormal B and T cell development that typically results in death within the first year of life if undiagnosed or untreated. Reticular dysgenesis (RD) is a rare but e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f48843ffc5f15a6d97326089b584497
https://pubmed.ncbi.nlm.nih.gov/34814161

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Reticular dysgenesis exacerbated by hemophagocytic lymphohistiocytosis and the presence of unusual histiocyte-like cells in bone marrow

Autor: Anju Gupta, Madhubala Sharma, Sreejesh Sreedharaunni, Amit Rawat, Rahul Tyagi, Sathish Kumar Loganathan

Publikováno v: Immunobiology. 226(6)

We report a rare case of agranulocytosis and lymphopenia complicated with hemophagocytic lymphohistiocytosis. Diagnosis of reticular dysgenesis was made by detection of a pathogenic stop gain variant in the AK2 gene on targeted next generation sequen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0442ce094c8d8ab1623503f81798ab1f
https://pubmed.ncbi.nlm.nih.gov/34598034

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