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孤立性促肾上腺皮质激素缺乏症与常见变异型免疫缺陷相关。

Isolated adrenocorticotropic hormone deficiency associated with common variable immunodeficiency.

作者信息

Tovo P A, Lala R, Martino S, Pastorelli G, De Sanctis C

机构信息

Department of Paediatrics, University of Turin, Italy.

出版信息

Eur J Pediatr. 1991 Apr;150(6):400-2. doi: 10.1007/BF02093717.

DOI:10.1007/BF02093717
PMID:1645668
Abstract

A 14-year-old girl has been suffering from an isolated adrenocorticotropin hormone (ACTH) deficiency with secondary glucocorticoid deficiency and common variable immunodeficiency since the age of 6.6 years. Human corticotropin releasing hormone administration did not increase ACTH and cortisol levels, strongly suggesting a pituitary deficiency. Despite the profound humoral defect, severe infections have never developed and the antibody response to herpes viruses was intact. We speculate that the association between two rare disorders, simultaneously diagnosed 2 months after measles, is not coincidental but caused by close interactions between neuro-endocrine and immune systems.

摘要

一名14岁女孩自6.6岁起就一直患有孤立性促肾上腺皮质激素(ACTH)缺乏症,继发糖皮质激素缺乏症和常见变异型免疫缺陷。给予人促肾上腺皮质激素释放激素后,ACTH和皮质醇水平并未升高,强烈提示存在垂体功能缺陷。尽管存在严重的体液免疫缺陷,但从未发生过严重感染,且对疱疹病毒的抗体反应完好。我们推测,这两种罕见疾病在麻疹后2个月同时被诊断出,并非巧合,而是神经内分泌系统和免疫系统之间密切相互作用所致。

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2
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本文引用的文献

1
X-linked hypogammaglobulinemia and isolated growth hormone deficiency.X连锁低丙种球蛋白血症与孤立性生长激素缺乏症。
N Engl J Med. 1980 Jun 26;302(26):1429-34. doi: 10.1056/NEJM198006263022601.
2
Common variable hypogammaglobulinemia in children. Clinical and immunologic observations in 30 patients.儿童常见可变型低丙种球蛋白血症。30例患者的临床和免疫学观察
Am J Dis Child. 1983 Sep;137(9):833-7. doi: 10.1001/archpedi.1983.02140350011004.
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Ovine (o) and human (h) corticotrophin releasing factor (CRF) in man: CRF-stimulation and CRF-immunoreactivity.
内分泌紊乱是原发性抗体缺陷患者的显著临床特征。
Front Immunol. 2019 Aug 30;10:2079. doi: 10.3389/fimmu.2019.02079. eCollection 2019.
4
Novel Heterozygous Mutation in Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome.某基因的新型杂合突变与早发性常见变异型免疫缺陷病以及自然杀伤细胞功能缺陷相关,并发播散性巨细胞病毒感染和严重肾病综合征。
Front Pediatr. 2019 Jul 30;7:303. doi: 10.3389/fped.2019.00303. eCollection 2019.
5
Deficit of Anterior Pituitary Function and Variable Immune Deficiency Syndrome: A Novel Mutation.垂体前叶功能减退与可变免疫缺陷综合征:一种新型突变
Glob Pediatr Health. 2017 Jan 27;4:2333794X16686870. doi: 10.1177/2333794X16686870. eCollection 2017.
6
Neurologic Complications of Common Variable Immunodeficiency.常见可变免疫缺陷的神经系统并发症
J Clin Immunol. 2016 Nov;36(8):793-800. doi: 10.1007/s10875-016-0336-8. Epub 2016 Oct 4.
7
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.患有DAVID综合征(具有可变的内分泌和免疫缺陷)的患者中NFKB2的突变及潜在的遗传异质性。
BMC Med Genet. 2014 Dec 19;15:139. doi: 10.1186/s12881-014-0139-9.
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Am J Hum Genet. 2013 Nov 7;93(5):812-24. doi: 10.1016/j.ajhg.2013.09.009. Epub 2013 Oct 17.
Acta Endocrinol (Copenh). 1984 Jul;106(3):289-97. doi: 10.1530/acta.0.1060289.
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5
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Am J Dis Child. 1983 Dec;137(12):1202-3. doi: 10.1001/archpedi.1983.02140380062021.
6
Isolated ACTH deficiency: a heterogeneous disorder. Critical review and report of four new cases.孤立性促肾上腺皮质激素缺乏症:一种异质性疾病。4例新病例的批判性综述及报告
Medicine (Baltimore). 1982 Jan;61(1):13-24.
7
Isolated adrenocorticotropin deficiency associated with polyglandular failure.孤立性促肾上腺皮质激素缺乏症伴多腺体功能衰竭。
J Clin Endocrinol Metab. 1982 Jan;54(1):182-6. doi: 10.1210/jcem-54-1-182.
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Clin Exp Immunol. 1981 Sep;45(3):576-82.