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Reticular dysgenesis

Reticular dysgenesis
Other namesAK2 deficiency, Congenital aleukocytosis, De Vaal disease, Generalized hematopoietic hypoplasia, SCID with leukopenia
Reticular dysgenesis is inherited in an autosomal recessive manner
SpecialtyHematology Edit this on Wikidata

Reticular dysgenesis (RD) is a rare, inherited autosomal recessive disease that results in immunodeficiency.[1] Individuals with RD have mutations in both copies of the AK2 gene.[1] Mutations in this gene lead to absence of AK2 protein.[2] AK2 protein allows hematopoietic stem cells to differentiate and proliferate.[2] Hematopoietic stem cells give rise to blood cells.[2]

Differentiation and proliferation of hematopoietic stem cells require a lot of energy and this energy is supplied by the mitochondria.[2] The energy metabolism of mitochondria is regulated by the AK2 protein.[2] If there is a mutation in the protein, that means that the mitochondria metabolism most likely will be altered and will not be able to provide enough energy to the hematopoietic stem cells.[2] As a result, hematopoietic stem cells will not be able to differentiate or proliferate.[2]

The immune system consists of specialized cells that work together to fight off bacteria, fungi and viruses.[3] These cells include T lymphocytes (T cells), that primarily mediate the immune system, B lymphocytes (B cells) and Natural Killer cells.[3] Patients with RD have a genetic defect that affects the T cells and at least one other type of immune cell.[4] Since more than one type of immune cell is affected, this disease is classified as a severe combined immunodeficiency disease (SCID).[3] A weakened immune system leaves patients susceptible to different kinds of infection. Commonly, patients who are diagnosed with RD also have bacterial sepsis and/or pneumonia.[4] The annual incidence has been estimated at 1/3,000,000-1/5,000,000 and both females and males are affected.[5]

  1. ^ a b Pannicke, Ulrich; Hönig, Manfred; Hess, Isabell; Friesen, Claudia; Holzmann, Karlheinz; Rump, Eva-Maria; Barth, Thomas F; Rojewski, Markus T; Schulz, Ansgar (2009). "Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2". Nature Genetics. 41 (1): 101–105. doi:10.1038/ng.265. PMID 19043417. S2CID 205347130.
  2. ^ a b c d e f g Six, E.; Lagresle-Peyrou, C.; Susini, S.; De Chappedelaine, C.; Sigrist, N.; Sadek, H.; Chouteau, M.; Cagnard, N.; Fontenay, M. (2015-08-13). "AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages". Cell Death & Disease. 6 (8): e1856. doi:10.1038/cddis.2015.211. PMC 4558504. PMID 26270350.
  3. ^ a b c "The Immune System and Primary Immunodeficiency | Immune Deficiency Foundation". primaryimmune.org. Retrieved 2016-11-20.
  4. ^ a b Bertrand, Y.; Müller, S. M.; Casanova, J. L.; Morgan, G.; Fischer, A.; Friedrich, W. (2002-05-01). "Reticular dysgenesis: HLA non-identical bone marrow transplants in a series of 10 patients". Bone Marrow Transplantation. 29 (9): 759–762. doi:10.1038/sj.bmt.1703531. ISSN 0268-3369. PMID 12040473.
  5. ^ "Reticular dysgenesis: epidemiology". rarediseases. Genetic and rare diseases information center. Retrieved 17 April 2018.

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