Mutations hypomorphiques de RAG1 et infections à CMV Un nouveau phénotype de déficit immunitaire

Medecine/Sciences

Volumn 22, Issue 3, 2006, Pages 239-240

  Le Deist, Françoise ^a,b   de Villartay, Jean Pierre ^c   Lim, Annick ^d   Déchanet, Julie ^e   Fischer, Alain ^c  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITY OF MONTREAL   (Canada)

^c INSERM   (France)

^d INSTITUT PASTEUR   (France)

^e UNIVERSITÉ DE BORDEAUX   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; HOMEODOMAIN PROTEIN; NUCLEAR PROTEIN; RAG 1 PROTEIN; RAG-1 PROTEIN; RAG2 PROTEIN, HUMAN;

ARTICLE; COMBINED IMMUNODEFICIENCY; CYTOMEGALIC INCLUSION BODY DISEASE; GENETICS; HUMAN; MUTATION; PHENOTYPE;

CYTOMEGALOVIRUS INFECTIONS; DNA-BINDING PROTEINS; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 33646237125     PISSN: 07670974     EISSN: 19585381     Source Type: Journal    
DOI: 10.1051/medsci/2006223239     Document Type: Article

References (10)

1. Corneo B, Moshous D, Gungor T, 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 2001; 97: 2772-6.
2. Moshous D, Callebaut I, de Chasseval R, et al. Artemis, a novel DNA double-strand break repair/V(D)j recombination protein, is mutated in human severe combined immune deficiency. Cell 2001; 105: 177-86.
3. Ege M, Ma Y, Manfras B, et al. Omenn syndrome due to Artemis mutations. Blood 2005; 105: 4179-86.
4. Rieux-Laucat F, Bahadoran P, Brousse N, et al. Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn’s syndrome. J Clin Invest 1998; 102: 312-21.
5. De Villartay JP, Lim A, Al-Mousa H, et al. A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest 2005; 115: 3291-9.
6. Ehl S, Schwarz K, Enders A, et al. A variant of SCID with specific immune responses and predominance of gammadelta T cells. J Clin Invest 2005; 115: 3140-8.
7. Dechanet J, Merville P, Lim A, et al. Implication of gammadelta T cells in the human immune response to cytomegalovirus. J Clin Invest 1999; 103: 1437-49.
8. Murray JC, Bernini JC, Bijou HL, et al. Infantile cytomegalovirus-associated autoimmune hemolytic anemia. J Pediatr Hematol Oncol 2001; 23: 318-20.
9. Ware RE, Howard TA. Elevated numbers of gammadelta (gamma delta+) T lymphocytes in children with immune thrombocytopenic purpura. J Clin Immunol 1994; 14: 237-47.
10. Villa A, Sobacchi C, Vezzoni P. Recombination activating gene and its defects. Curr Opin Allergy Clin Immunol 2001; 1: 491-5.