Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5Mb deletion in 22q11.2 region

Clinical Immunology

Volumn 145, Issue 1, 2012, Pages 55-58

  De Queiroz Soares, Diogo Cordeiro ^a   Dutra, Roberta Lelis ^b   D'angioli Costa Quaio, Caio Robledo ^b   Melaragno, Maria Isabel ^c   Kulikowski, Leslie Domenici ^b   Torres, Leuridan Cavalcante ^a,b   Kim, Chong Ae ^b  

^a INSTITUTO DE MEDICINA INTEGRAL PROF FERNANDO FIGUEIRA   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CD4 ANTIGEN; CD56 ANTIGEN; CD8 ANTIGEN;

ADOLESCENT; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q11; FEMALE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; IMMUNE DEFICIENCY; LETTER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; B-LYMPHOCYTES; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FEMALE; FLOW CYTOMETRY; HUMANS; IMMUNOGLOBULINS; IMMUNOPHENOTYPING; QB-SNARE PROTEINS; QC-SNARE PROTEINS; RECEPTORS, PURINERGIC P2; SEQUENCE ANALYSIS, DNA; T-LYMPHOCYTE SUBSETS; T-LYMPHOCYTES; TRANSCRIPTION FACTORS;

EID: 84865326764     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2012.07.013     Document Type: Letter

References (10)

1. Kobrynski L.J., Sullivan K.E. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 2007, 370:1443-1452.
2. Yamagishi H. The 22q11.2 deletion syndrome. Keio J. Med. 2002, 51:77-88.
3. Sediva A., Bartunkova J., Zachova R., Polouckova A., Hrusak O., Janda A., et al. Early development of immunity in DiGeorge syndrome. Med. Sci. Monit. 2005, 11:182-187.
4. D'Angelo C.S., Jehee F.S., Koiffmann C.P. An inherited atypical 1Mb 22q11.2 deletion within the DGS/VCFS 3Mb region in a child with obesity and aggressive behavior. Am. J. Med. Genet. A 2007, 143A:1928-1932.
5. Moraes-Pinto M.I., et al. Valores de referência de linfócitos/mm3 em população brasileira saudável. Braz.Group Prim. Immunodefic. Disord. 2006, 3:1-4.
6. McLean-Tooke A., Barge D., Spickett G.P., Gennery A.R. Flow cytometric analysis of TCR Vβ repertoire in patients with 22q11.2 deletion syndrome. Scand. J. Immunol. 2011, 73:577-585.
7. McLean-Tooke A., Barge D., Spickett G.P., Gennery A.R. Immunological defects in 22q11.2 deletion syndrome. J. Allergy Clin. Immunol. 2008, 122:362-367.
8. + B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome). Pediatr. Allergy Immunol. 2006, 17:382-388.
9. Godfrey D.I., Hammond K.J., Poulton L.D., Smyth M.J., Baxter A.G. NKT cells: facts, functions and fallacies. Immunol. Today 2000, 21:573-583.
10. Wilson S.B., Kent S.C., Patton K.T., Orban T., Jackson R.A., Exley M., Porcelli S., Schatz D.A., Atkinson M.A., Balk S.P., Strominger J.L., Hafler D.A. Extreme Th1 bias of invariant Vα24JαQ T cells in type 1 diabetes. Nature 1998, 391:177-181.