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Article

Reticular dysgenesis caused by an intronic pathogenic variant in AK2.

Cold Spring Harbor molecular case studies - 1 Jun 2020

Ichikawa Shoji, Prockop Susan, Cunningham-Rundles Charlotte, Sifers Travis, Conner Blair R, Wu Sitao, Karam Rachid, Walsh Michael F, Fiala Elise

Abstract excerpt

Reticular dysgenesis is a form of severe combined immunodeficiency (SCID) caused by biallelic pathogenic variants in AK2 Here we present the case of a boy diagnosed with SCID following a positive newborn screen (NBS). Genetic testing revealed a homozygous variant: AK2 c.330 + 5G > A. In silico analyses predicted weakened native donor splice site. However, this variant was initially classified as a variant of...

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Identifiers

PMID: 32532877
DOI: 10.1101/mcs.a005017
PMCID: PMC7304357

Genes

AK2

Provenance

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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