DISEASE: Reticular dysgenesis

Entry

H01128                      Disease

Name

Reticular dysgenesis

Supergrp

T-B-Severe combined immunodeficiency [DS:H00092]
Disorders of adaptive immunity [DS:H02526]
Primary immunodeficiency disease [DS:H01725]

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

Related
pathway

hsa01240

Biosynthesis of cofactors

hsa00230

Purine metabolism

hsa00730

Thiamine metabolism

Gene

AK2 [HSA:204] [KO:K00939]

Other DBs

ICD-11:

4A01.10

ICD-10:

D81.0

MeSH:

C538361

OMIM:

267500

Reference

PMID:20863163

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

PMID:19043417

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

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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