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1
Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Clin Diagn Lab Immunol. 1998 May;5(3):415-7. doi: 10.1128/CDLI.5.3.415-417.1998.
2
Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22q11 deletion syndrome.22q11缺失综合征中的青少年特发性多关节型关节炎和IgA缺乏症。
J Rheumatol. 2001 Oct;28(10):2326-34.
3
Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes.22q11.2染色体缺失综合征中T细胞生成受损、免疫缺陷与其他表型特征之间缺乏相关性。
Clin Immunol Immunopathol. 1998 Feb;86(2):141-6. doi: 10.1006/clin.1997.4463.
4
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.DiGeorge综合征和腭心面综合征中22q11微缺失的患病率：对遗传咨询和产前诊断的意义。
J Med Genet. 1993 Oct;30(10):813-7. doi: 10.1136/jmg.30.10.813.
5
A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients.一名患有22q11.2缺失且具有类似Opitz综合征表型的患者与腭心面综合征患者有相同的缺失。
Am J Med Genet A. 2007 Dec 15;143A(24):3302-8. doi: 10.1002/ajmg.a.32025.
6
Genetic basis of DiGeorge and velocardiofacial syndromes.迪格奥尔格综合征和腭心面综合征的遗传基础。
Curr Opin Pediatr. 1994 Dec;6(6):702-6. doi: 10.1097/00008480-199412000-00016.
7
Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.患有DiGeorge/心脏颜面综合征的堂兄弟姊妹中独立发生的22q11.2新发缺失
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Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome).22q11.2 染色体缺失综合征（迪乔治异常/腭心面综合征/圆锥动脉干异常面容综合征）中的青少年类风湿性关节炎样多关节炎
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DiGeorge syndrome/velocardiofacial syndrome: the chromosome 22q11.2 deletion syndrome.迪乔治综合征/心脏颜面综合征：22q11.2染色体缺失综合征
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10
[Microdeletion of 22q11, DiGeorge and velocardiofacial syndrome].[22q11微缺失、迪格奥尔格综合征和腭心面综合征]
Ugeskr Laeger. 2000 Jul 31;162(31):4169-70.

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Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication Syndromes.22q11.2缺失与重复综合征的病理生理学及临床表现综述
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Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.22q11.2 号染色体缺失（DiGeorge 综合征）：免疫特征、诊断和管理。
Curr Allergy Asthma Rep. 2023 Apr;23(4):213-222. doi: 10.1007/s11882-023-01071-4. Epub 2023 Mar 10.
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Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).22q11.2 缺失（DiGeorge 综合征）的免疫和遗传特征。
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Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.染色体 22q11.2 缺失综合征相关的可变免疫缺陷与缺失大小有关。
Am J Med Genet A. 2018 Oct;176(10):2082-2086. doi: 10.1002/ajmg.a.38597. Epub 2018 Jan 17.
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22q11.2 deletion syndrome.22q11.2 缺失综合征。
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CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.与综合征诊断相关的冠心病：围手术期危险因素及早期结局
Cardiol Young. 2016 Jan;26(1):30-52. doi: 10.1017/S1047951115001389. Epub 2015 Sep 8.
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Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia.DiGeorge综合征中的免疫缺陷及完全无胸腺病例的治疗选择
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8
DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood.成年期以低钙血症诱发癫痫发作为表现的迪乔治综合征
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9
Immunological aspects of 22q11.2 deletion syndrome.22q11.2 缺失综合征的免疫学方面。
Cell Mol Life Sci. 2012 Jan;69(1):17-27. doi: 10.1007/s00018-011-0842-z. Epub 2011 Oct 9.
10
A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome).一项关于流感疫苗接种的前瞻性研究及对染色体 22q11.2 缺失综合征（迪乔治综合征/心脏面部综合征）患儿和成人免疫参数的比较。
J Clin Immunol. 2011 Dec;31(6):927-35. doi: 10.1007/s10875-011-9569-8. Epub 2011 Aug 24.

本文引用的文献

1
Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes.22q11.2染色体缺失综合征中T细胞生成受损、免疫缺陷与其他表型特征之间缺乏相关性。
Clin Immunol Immunopathol. 1998 Feb;86(2):141-6. doi: 10.1006/clin.1997.4463.
2
Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome).22q11.2 染色体缺失综合征（迪乔治异常/腭心面综合征/圆锥动脉干异常面容综合征）中的青少年类风湿性关节炎样多关节炎
Arthritis Rheum. 1997 Mar;40(3):430-6. doi: 10.1002/art.1780400307.
3
Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations.儿童期血液淋巴细胞的免疫表型分析。淋巴细胞亚群的参考值。
J Pediatr. 1997 Mar;130(3):388-93. doi: 10.1016/s0022-3476(97)70200-2.
4
Humoral immunity in DiGeorge syndrome.迪格奥尔格综合征中的体液免疫。
J Pediatr. 1995 Aug;127(2):231-7. doi: 10.1016/s0022-3476(95)70300-4.
5
The association of the DiGeorge anomalad with partial monosomy of chromosome 22.迪乔治异常综合征与22号染色体部分单体性的关联。
J Pediatr. 1982 Aug;101(2):197-200. doi: 10.1016/s0022-3476(82)80116-9.
6
Large scale detection of IgA deficient blood donors.
J Immunol Methods. 1982 Oct 29;54(2):183-9. doi: 10.1016/0022-1759(82)90059-x.
7
Selective IgA deficiency in Australian blood donors.
Aust N Z J Med. 1980 Aug;10(4):410-3. doi: 10.1111/j.1445-5994.1980.tb04091.x.
8
Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit?伴有体液免疫缺陷的22号染色体单体：是否存在免疫球蛋白链缺陷？
J Med Genet. 1983 Feb;20(1):69-72. doi: 10.1136/jmg.20.1.69.
9
Selective IgA deficiency in blood donors.献血者中的选择性IgA缺乏症。
Am J Clin Pathol. 1983 Aug;80(2):210-3. doi: 10.1093/ajcp/80.2.210.
10
Serum levels of immune globulins in health and disease: a survey.健康与疾病状态下血清免疫球蛋白水平：一项调查
Pediatrics. 1966 May;37(5):715-27.

Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

作者信息

Smith C A, Driscoll D A, Emanuel B S, McDonald-McGinn D M, Zackai E H, Sullivan K E

机构信息

Division of Immunologic and Infectious Diseases, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA.

出版信息

Clin Diagn Lab Immunol. 1998 May;5(3):415-7. doi: 10.1128/CDLI.5.3.415-417.1998.

DOI:10.1128/CDLI.5.3.415-417.1998
PMID:9606003
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC104536/
Abstract

We wished to determine the prevalence of immunoglobulin A (IgA) deficiency in patients with the chromosome 22q11.2 deletion syndrome. A total of 32 patients with the chromosome 22q11.2 deletion were examined for IgA deficiency. We report a 13% (n = 4) prevalence of IgA deficiency in patients with this syndrome. The odds ratio of IgA deficiency in this population is 14.20 (P < 0.0001). This confirms the occurrence of significant humoral deficits in this predominantly cellular immunodeficiency.

摘要