DiGeorge syndrome/chromosome 22q11.2 deletion syndrome.

被引：12
作者：
Sullivan K.E. [1 ]
机构：
[1] Division of Immunologic and Infectious Diseases, Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, 19104, PA
来源：
Current Allergy and Asthma Reports | 2001年 / 1卷 / 5期
关键词：
Chromosome 22q11; Deletion Syndrome; Primary Immunodeficiency Disease; DiGeorge Syndrome; Interrupted Aortic Arch;
D O I：
10.1007/s11882-001-0029-z
中图分类号：
学科分类号：
摘要：
DiGeorge syndrome is characterized by conotruncal cardiac defects, hypocalcemia, and a hypoplastic thymus. Many, but not all, patients have a heterozygous deletion of chromosome 22q11.2. In its most severe form, it represents a devastating syndrome with high mortality. Patients with severe immunodeficiency are candidates for a thymic transplant or a fully matched bone marrow transplant. Fortunately, the majority of patients with either DiGeorge syndrome or chromosome 22q11.2 deletion syndrome have a mild to moderate immunodeficiency. These patients may develop recurrent infections or autoimmune disease.
引用
收藏
页码：438 / 444
页数：6
相关论文
共 181 条
[1]  
Cooper MD(1965)A new concept of the cellular basis of immunity J Pediatr 67 907-908
[2]  
Peterson RDA(1975)T-cell deficiency in DiGeorge syndrome Birth Defects Orig Artic Ser 11 16-21
[3]  
Good RA(1982)The association of the DiGeorge anomalad with partial monosomy of chromosome 22 J Pediatr 101 197-200
[4]  
Lischner HW(1993)Confirmation that the velo-cardiofacial syndrome is associated with haploinsufficiency of genes at chromosome 22 Am J Med Genet 45 308-312
[5]  
Huff DS(1992)A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11 Am J Hum Genet 50 924-933
[6]  
Kelley RI(1999)22q11 deletion in DGS/ VCFS monozygotic twins with discordant phenotypes Genet Couns 10 43-49
[7]  
Zackai EH(1998)Deletion of 22q11 in two brothers with different phenotype Am J Med Genet 75 288-291
[8]  
Emanuel BS(1998)Phenotypic discordance in monozygotic twins with 22q11.2 deletion Am J Med Genet 78 319-321
[9]  
Kelley D(1999)Low-copy repeats mediate the common 3-Mb deletion in patients with velocardio-facial syndrome Am J Hum Genet 64 1076-1086
[10]  
Goldberg R(1998)Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2) Eur J Hum Genet 6 213-225
12345678910