Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2
Abstract
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, leading to fatal septicemia within days after birth. In bone marrow of individuals with reticular dysgenesis, myeloid differentiation is blocked at the promyelocytic stage, whereas erythro- and megakaryocytic maturation is generally normal. These features exclude a defect in hematopoietic stem cells but point to a unique aberration of the myelo-lymphoid lineages. The dramatic clinical course of reticular dysgenesis and its unique hematological phenotype have spurred interest in the unknown genetic basis of this syndrome. Here we show that the gene encoding the mitochondrial energy metabolism enzyme adenylate kinase 2 (AK2) is mutated in individuals with reticular dysgenesis. Knockdown of zebrafish ak2 also leads to aberrant leukocyte development, stressing the evolutionarily conserved role of AK2. Our results provide in vivo evidence for AK2 selectivity in leukocyte differentiation. These observations suggest that reticular dysgenesis is the first example of a human immunodeficiency syndrome that is causally linked to energy metabolism and that can therefore be classified as a mitochondriopathy.
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Impaired mitochondrial function is linked to defective HSC maintenance.
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- Authors
- Pannicke, U., Hönig, M., Hess, I., Friesen, C., Holzmann, K., Rump, E.-M., Barth, T. F., Rojewski, M. T., Schulz, A., Boehm, T., Friedrich, W., & Schwarz, K.
- Affiliations
- Universität Ulm (DE)
- Max Planck Society (DE)
- University Hospital Ulm (DE)
- German Red Cross (DE)
- Corresponding author
- Schwarz, Klaus
- ORCID
- Venue
- Nature Genetics
- Published
- 2008-11-30
- Volume
- 41
- Issue
- 1
- Pages
- 101-105
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2041419269
- Cited by
- 237
- References
- 20
- Citations by year
- 2026: 6 · 2025: 7 · 2024: 9 · 2023: 6 · 2022: 8 · 2021: 10 · 2020: 18 · 2019: 16 · 2018: 8 · 2017: 11 · 2016: 10 · 2015: 18 · 2014: 20 · 2013: 17 · 2012: 22
- FWCI
- 6.68
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Max Planck Digital Library (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Biochemical and Molecular Research
- Keywords
- reticular dysgenesis, severe combined immunodeficiency, mitochondrial bioenergetics, leukocyte differentiation, myeloid differentiation block, thymic hypoplasia
- MeSH terms
- Adenylate Kinase, Animals, Bone Marrow Cells, Cell Line, Embryo, Nonmammalian, Female, Fibroblasts, Humans, Isoenzymes, Leukocytes, Mononuclear, Male, Mitochondria, Mutation, Zebrafish, Gene Expression Regulation, Enzymologic, Severe Combined Immunodeficiency, Apoptosis, Reactive Oxygen Species, Membrane Potential, Mitochondrial
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