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Article

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

Nature genetics - 1 Jan 2009

Pannicke Ulrich, Hönig Manfred, Hess Isabell, Friesen Claudia, Holzmann Karlheinz, Rump Eva-Maria, Barth Thomas F, Rojewski Markus T, Schulz Ansgar, Boehm Thomas, Friedrich Wilhelm, Schwarz Klaus

Abstract excerpt

Human severe combined immunodeficiencies (SCID) are phenotypically and genotypically heterogeneous diseases. Reticular dysgenesis is the most severe form of inborn SCID. It is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions,...

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Share to Adenylate Kinase
Share to Bone Marrow Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Embryo, Nonmammalian

Share to Gene Expression Regulation, Enzymologic

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Share to Membrane Potential, Mitochondrial

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Source

Identifiers

PMID: 19043417
DOI: 10.1038/ng.265

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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