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): 2772-6, 2001 May 01.
Article
en En
| MEDLINE
| ID: mdl-11313270
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 activated oligoclonal T lymphocytes, indicating that a profound defect in the lymphoid developmental program could be accountable for this condition. Inherited mutations in either the recombination activating genes RAG1 or RAG2, resulting in partial V(D)J recombinase activity, were shown to be responsible for 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 same mutations in patients with T-B-severe combined immune deficiency or OS on 3 separate occasions, the proposal is made that an additional factor may be required in certain circumstances for the development of the Omenn phenotype. The nature of this factor is discussed.
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Bases de datos:
MEDLINE
Asunto principal:
Inmunodeficiencia Combinada Grave
/
Genes RAG-1
/
Proteínas de Unión al ADN
/
Mutación
Tipo de estudio:
Etiology_studies
Límite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Blood
Año:
2001
Tipo del documento:
Article
País de afiliación:
Francia