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Article

Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation.

Scientific reports - 31 Oct 2019

Ghaloul-Gonzalez Lina, Mohsen Al-Walid, Karunanidhi Anuradha, Seminotti Bianca, Chong Hey, Madan-Khetarpal Suneeta, Sebastian Jessica, Vockley Catherine Walsh, Reyes-Múgica Miguel, Vander Lugt Mark T, Vockley Jerry

Abstract excerpt

Reticular dysgenesis is an autosomal recessive form of severe combined immunodeficiency (SCID) that usually manifests in newborns. It is a unique example of an immune deficiency that is linked to dysfunctional mitochondrial energy metabolism and caused by adenylate kinase 2 (AK2) deficiency. It is characterized by an early differentiation arrest in the myeloid lineage, impaired lymphoid maturation, and...

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Identifiers

PMID: 31673062
DOI: 10.1038/s41598-019-51922-2
PMCID: PMC6823482

Genes

AK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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