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Article

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

Disease models & mechanisms - 20 Dec 2019

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

Abstract excerpt

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 birth. The only available therapeutic option for RD is hematopoietic stem cell transplantation (HSCT). To gain insight into the pathophysiology of RD, we previously...

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Share to Adenylate Kinase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hair Cells, Auditory

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Source

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Identifiers

PMID: 31727854
DOI: 10.1242/dmm.040170
PMCID: PMC6955229

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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