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伴有关节脱位和严重联合免疫缺陷的脊椎-中胚层-肢端发育不良：一种新确认的免疫-骨发育不良。

Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.

作者信息

Castriota-Scanderbeg A, Mingarelli R, Caramia G, Osimani P, Lachman R S, Rimoin D L, Wilcox W R, Dallapiccola B

机构信息

Department of Radiology, Scientific Institute S Lucia, Rome, Italy.

出版信息

J Med Genet. 1997 Oct;34(10):854-6. doi: 10.1136/jmg.34.10.854.

DOI:10.1136/jmg.34.10.854
PMID:9350822
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051096/
Abstract

A newborn girl is described with an association of spondylo-acrodysplasia, mild short limbed dwarfism without significant metaphyseal changes, joint dislocations, and severe immune system dysfunction. This association is distinct from other known immuno-osseous dysplasias, including Schimke dysplasia, ADA deficiency with osseous changes, and Omenn phenotype with short limbed dwarfism.

摘要

本文描述了一名患有脊椎-肢端发育异常、轻度短肢侏儒症（无明显干骺端改变）、关节脱位和严重免疫系统功能障碍的新生女婴。这种综合征与其他已知的免疫性骨发育异常不同，包括施姆克发育异常、伴有骨改变的腺苷脱氨酶缺乏症以及伴有短肢侏儒症的奥门表型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6af5/1051096/66b0bf6a429e/jmedgene00252-0063-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6af5/1051096/76c1f1e0bebf/jmedgene00252-0062-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6af5/1051096/66b0bf6a429e/jmedgene00252-0063-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6af5/1051096/76c1f1e0bebf/jmedgene00252-0062-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6af5/1051096/66b0bf6a429e/jmedgene00252-0063-a.jpg

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Congenic mice confirm that collagen X is required for proper hematopoietic development.同源小鼠证实，胶原 X 对于正常的造血发育是必需的。
PLoS One. 2010 Mar 3;5(3):e9518. doi: 10.1371/journal.pone.0009518.
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Altered endochondral ossification in collagen X mouse models leads to impaired immune responses.胶原蛋白X小鼠模型中软骨内骨化改变导致免疫反应受损。

本文引用的文献

1
FAMILIAL RETICULOENDOTHELIOSIS WITH EOSINOPHILIA.伴有嗜酸性粒细胞增多的家族性网状内皮细胞增多症
N Engl J Med. 1965 Aug 19;273:427-32. doi: 10.1056/NEJM196508192730806.
2
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.阿米什人中的侏儒症。II. 软骨毛发发育不全。
Bull Johns Hopkins Hosp. 1965 May;116:285-326.
3
Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia.遗传性淋巴细胞减少性无丙种球蛋白血症，伴有一种特殊类型的短肢侏儒症和外胚层发育不良。
Dev Dyn. 2008 Oct;237(10):2693-704. doi: 10.1002/dvdy.21594.
4
Chicken collagen X regulatory sequences restrict transgene expression to hypertrophic cartilage in mice.鸡胶原蛋白X调控序列将转基因表达限制在小鼠的肥大软骨中。
Am J Pathol. 2004 Feb;164(2):487-99. doi: 10.1016/S0002-9440(10)63139-2.
5
Linking hematopoiesis to endochondral skeletogenesis through analysis of mice transgenic for collagen X.通过对X型胶原蛋白转基因小鼠的分析将造血作用与软骨内骨生成联系起来。
Am J Pathol. 2002 Jun;160(6):2019-34. doi: 10.1016/S0002-9440(10)61152-2.
6
A dominant interference collagen X mutation disrupts hypertrophic chondrocyte pericellular matrix and glycosaminoglycan and proteoglycan distribution in transgenic mice.显性干扰性胶原蛋白X突变破坏转基因小鼠肥大软骨细胞的细胞周基质以及糖胺聚糖和蛋白聚糖的分布。
Am J Pathol. 2001 Dec;159(6):2257-69. doi: 10.1016/S0002-9440(10)63076-3.
J Pediatr. 1969 Oct;75(4):675-84. doi: 10.1016/s0022-3476(69)80465-8.
4
Antibody-mediated immunodeficiency in short-limbed dwarfism.短肢侏儒症中的抗体介导免疫缺陷。
J Pediatr. 1974 Feb;84(2):200-3. doi: 10.1016/s0022-3476(74)80601-3.
5
Chondroitin-6-sulfate mucopoly-saccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome.
Birth Defects Orig Artic Ser. 1974;10(12):258-66.
6
Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.希姆克免疫性骨发育不良：一种新发现的多系统疾病。
J Pediatr. 1991 Jul;119(1 Pt 1):64-72. doi: 10.1016/s0022-3476(05)81040-6.
7
Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.伴有严重联合免疫缺陷和股骨弯曲的短身材/短肢骨骼发育不良：两例报告及文献复习
J Med Genet. 1991 Jan;28(1):10-7. doi: 10.1136/jmg.28.1.10.
8
Omenn phenotype with short-limbed dwarfism.伴有短肢侏儒症的奥门综合征表型。
J Pediatr. 1991 Jan;118(1):86-9. doi: 10.1016/s0022-3476(05)81853-0.
9
Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a workshop held in Albany, New York, October 1, 1973.与腺苷脱氨酶缺乏相关的联合免疫缺陷病。1973年10月1日在纽约奥尔巴尼举行的研讨会报告。
J Pediatr. 1975 Feb;86(2):169-81. doi: 10.1016/s0022-3476(75)80463-x.
10
The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency.腺苷脱氨酶缺乏伴严重联合免疫缺陷的软骨-骨发育异常
J Pediatr. 1976 Nov;89(5):737-42. doi: 10.1016/s0022-3476(76)80793-7.