Omenn syndrome in the context of other B cell-negative severe combined immunodeficiencies

Israel Medical Association Journal

Volumn 4, Issue 3, 2002, Pages 218-221

  Villa, Anna ^a   Sobacchi, Christina ^a   Vezzoni, Paulo ^a  

^a CNR   (Italy)

Author keywords

Artemis; Omenn syndrome; Recombination activating genes; Severe combined immunodeficiencies

Indexed keywords

CELLS; GENES; MUTAGENS; PATHOLOGY; PHYSIOLOGY;

IMMUNODEFICIENCY;

BIOMEDICAL ENGINEERING;

ANTIBODY; BETA LACTAMASE; IMMUNOGLOBULIN; IMMUNOGLOBULIN M; RAG1 PROTEIN; RAG2 PROTEIN; T LYMPHOCYTE RECEPTOR;

B LYMPHOCYTE; CARBOXY TERMINAL SEQUENCE; CLINICAL FEATURE; COMBINED IMMUNODEFICIENCY; DISEASE SEVERITY; EOSINOPHILIA; GENE ACTIVATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC CODE; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC RECOMBINATION; HUMAN; HYPEREOSINOPHILIA; HYPOGAMMAGLOBULINEMIA; MOLECULAR GENETICS; OMENN SYNDROME; PATHOPHYSIOLOGY; RETICULOENDOTHELIOSIS; REVIEW; SRC HOMOLOGY DOMAIN; T LYMPHOCYTE;

B-LYMPHOCYTES; BETA-LACTAMASES; DNA-BINDING PROTEINS; GENES, RAG-1; HUMANS; MUTATION; NUCLEAR PROTEINS; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 0036278766     PISSN: 15651088     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (26)

1. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency
2. Rag2-deficient mice lack mature lymphocytes owing to inability to initiate V(D) rearrangement
3. Rag1-deficient mice have no mature B and T lymphocytes
4. Rag mutations in human B cell-negative SCID
5. The RAG proteins in V(D)J recombination: More than just a nuclease
6. Hairpin coding end opening is mediated by RAG1 and RAG2 proteins
7. The RAG1/RAG2 complex constitutes a 3′ flap endonuclease: Implications for junctional diversity in V(D)J and transpositional recombination
8. RAG-1 interacts with the repeated amino acid motif of the human homologue of the yeast protein SRP1
9. A basic motif in the N-terminal region of RAG1 enhances V(D)J recombination activity
10. The VDJ recombination activating protein rag2 consists of a six-bladed propeller and PHD fingerlike domain, as revealed by sequence analysis
11. Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies
12. Dual role of RAG2 in V(D)J recombination catalysis and regulation of ordered Ig gene assembly
13. 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
14. Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency
15. V(D)J recombination defects in lymphocytes due to RAG mutations: A severe immunodeficiency with a spectrum of clinical presentations
16. Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency
17. A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency
18. A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p
19. Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity
20. Familial reticuloendotheliosis with eosinophilia
21. Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome)
22. Partial V(D)J recombination activity leads to Omenn syndrome
23. Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome
24. Identification of anti-herpes simplex virus (HSV) antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency
25. N-terminal RAG1 frameshift mutations in Omenn syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains
26. N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements