Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome

Citation
B. Corneo et al., Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome, BLOOD, 97(9), 2001, pp. 2772-2776
Citations number
53
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Hematology,"Cardiovascular & Hematology Research
Journal title
BLOOD
ISSN journal
0006-4971 → ACNP
Volume
97
Issue
9
Year of publication
2001
Pages
2772 - 2776
Database
ISI
SICI code
0006-4971(20010501)97:9<2772:IMIROR>2.0.ZU;2-T
Abstract
Omenn syndrome (OS) is an inherited disorder characterized by an absence of circulating B cells and an infiltration of the skin and the intestine by a ctivated oligoclonal T lymphocytes, indicating that a profound defect in th e lymphoid developmental program could be accountable for this condition. I nherited mutations in either the recombination activating genes RAG1 or RAG 2 resulting in partial V(D)J recombinase activity, were shown to he respons ible far OS. This study reports on the characterization of new RAG1/2 gene mutations in a series of 9 patients with OS. Given the occurrence of the sa me mutations in patients with T-B-severe combined immune deficiency or OS o n 3 separate occasions, the proposal is made that an additional factor may be required in certain circumstances for the development of the Omenn pheno type, The nature of this factor is discussed. (Blood, 2001;91:2772-2776) (C ) 2001 by The American Society of Hematology.