KEGG   DISEASE: Reticular dysgenesis
Entry
H01128                      Disease                                

Name
Reticular dysgenesis
Description
Reticular dysgenesis (RD) is a rare congenital immunodeficiency classified within the severe combined immunodeficiencies (SCIDs). It is inherited in an autosomal recessive manner, and 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. The bone marrow showed a maturation arrest in the myeloid and lymphoid lineage. The underlying genetic defect for most cases of RD have been identified in the gene encoding adenylate kinase 2 (AK2).
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H01128  Reticular dysgenesis
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H01128  Reticular dysgenesis
Pathway
hsa00230  Purine metabolism
Gene
AK2 [HSA:204] [KO:K00939]
Other DBs
ICD-11: 4A01.10
ICD-10: D81.0
MeSH: C538361
OMIM: 267500
Reference
  Authors
Cosar H, Kahramaner Z, Erdemir A, Kanik A, Turkoglu E, Sutcuoglu S, Ozturk C, Atabay B, Arun Ozer E
  Title
Reticular dysgenesis in a preterm infant: a case report.
  Journal
Pediatr Hematol Oncol 27:646-9 (2010)
DOI:10.3109/08880018.2010.509424
Reference
  Authors
Pannicke U, Honig M, Hess I, Friesen C, Holzmann K, Rump EM, Barth TF, Rojewski MT, Schulz A, Boehm T, Friedrich W, Schwarz K
  Title
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
  Journal
Nat Genet 41:101-5 (2009)
DOI:10.1038/ng.265
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