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Article

Recent advances in understanding the pathogenesis and management of reticular dysgenesis.

British journal of haematology - 1 Mar 2018

Hoenig Manfred, Pannicke Ulrich, Gaspar Hubert B, Schwarz Klaus

Abstract excerpt

Reticular Dysgenesis is a rare immunodeficiency which is clinically characterized by the combination of Severe Combined Immunodeficiency (SCID) with agranulocytosis and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 (AK2) were identified to cause this phenotype. In this review, we will demonstrate important clinical differences between reticular dysgenesis and other SCID entities and...

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Source

Identifiers

PMID: 29270983
DOI: 10.1111/bjh.15045

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Recent advances in understanding the pathogenesis and management of reticular dysgenesis.PMID 29270983Read ↗

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Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.Semantic proximity Read ↗

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Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stressSemantic proximity Read ↗

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

Reticular Dysgenesis-associated Adenylate Kinase 2 deficiency causes failure of myelopoiesis through disordered purine metabolismSemantic proximity Read ↗

A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stressSemantic proximity Read ↗

Reticular dysgenesis caused by an intronic pathogenic variant in AK2.Semantic proximity Read ↗

Successful haploidentical stem cell transplantation in a 3-month-old child with reticular dysgenesis using post-transplant cyclophosphamide: A case report & literature review from PakistanSemantic proximity Read ↗

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