MeSH Browser

MeSH Supplementary: Reticular dysgenesis
Unique ID: C538361
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538361
Entry Term(s): Aleukocytosis; Congenital aleukia; De Vaal Disease; DeVaal disease; Hematopoietic Hypoplasia, Generalized; Immunoerythromyeloid Hypoplasia; Reticular dysgenesia; Severe combined immunodeficiency with leukopenia
Heading Mapped to: *Leukopenia; *Severe Combined Immunodeficiency
Frequency: 21
Note: An extremely rare and severe form of combined immunodeficiency characterized by congenital agranulocytosis, lymphopenia, lymphoid and thymic hypoplasia, and an absence of cellular and humoral immunity. Affected individuals often die from infections in the neonatal period or early infancy. It is caused by mutations in the adenylate kinase-2 (AK2) gene. OMIM: 267500
Date of Entry: 2010/08/25
Revision Date: 2016/09/29

Concept UI: M0532822
Terms: Reticular dysgenesis Preferred Term
Term UI T745565
Date02/24/2009
LexicalTag NON
ThesaurusID; Severe combined immunodeficiency with leukopenia
Term UI T745567
Date02/24/2009
LexicalTag NON
ThesaurusID; Reticular dysgenesia
Term UI T745568
Date02/24/2009
LexicalTag NON
ThesaurusID; DeVaal disease
Term UI T745569
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Congenital aleukia
Term UI T745570
Date02/24/2009
LexicalTag NON
ThesaurusID; Immunoerythromyeloid Hypoplasia
Term UI T801369
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Aleukocytosis
Term UI T801370
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); De Vaal Disease
Term UI T801371
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Hematopoietic Hypoplasia, Generalized
Term UI T801372
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013)

Reticular dysgenesis MeSH Supplementary Concept Data 2024