KEGG   DISEASE: H01128Help
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 hierarchy
Pathway
Purine metabolism
Gene
AK2 [HSA:204] [KO:K00939]
Other DBs
MeSH: 
OMIM: 
Reference
PMID:20863163 (description, gene)
  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)
Reference
PMID:19043417 (description, gene)
  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)

» Japanese version

DBGET integrated database retrieval system