KEGG   DISEASE: H01128Help
H01128                      Disease                                

Reticular dysgenesis
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).
Immune system disease
BRITE hierarchy
Purine metabolism
AK2 [HSA:204] [KO:K00939]
Other DBs
PMID:20863163 (description, gene)
Cosar H, Kahramaner Z, Erdemir A, Kanik A, Turkoglu E, Sutcuoglu S, Ozturk C, Atabay B, Arun Ozer E
Reticular dysgenesis in a preterm infant: a case report.
Pediatr Hematol Oncol 27:646-9 (2010)
PMID:19043417 (description, gene)
Pannicke U, Honig M, Hess I, Friesen C, Holzmann K, Rump EM, Barth TF, Rojewski MT, Schulz A, Boehm T, Friedrich W, Schwarz K
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding  mitochondrial adenylate kinase 2.
Nat Genet 41:101-5 (2009)

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