罗伊夫曼综合征：进一步的免疫学和影像学特征描述。
Roifman syndrome: a description of further immunological and radiological features.
机构信息
Department of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland
Department of Paediatric Radiology, Cork University Hospital, Cork, Ireland.
出版信息
BMJ Case Rep. 2022 Apr 21;15(4):e249109. doi: 10.1136/bcr-2022-249109.
Abstract
Roifman syndrome is a rare autosomal recessive inherited syndromic immunodeficiency. We wish to add to the available literature by reporting two brothers with clinical, radiological and immunological features of Roifman syndrome, confirmed on whole exome sequencing. We report an excellent response to subcutaneous immunoglobulin therapy in both brothers, reducing infection burden and hospital admissions. New radiological features are also described here which may assist in the diagnosis of other patients.
摘要
罗伊夫曼综合征是一种罕见的常染色体隐性遗传性综合征性免疫缺陷病。我们希望通过报告两例具有罗伊夫曼综合征临床、影像学和免疫学特征的兄弟病例，并结合全外显子测序结果，来丰富现有文献。我们报告了这两例兄弟对皮下免疫球蛋白治疗的良好反应，降低了感染负担和住院率。此外，本文还描述了一些新的影像学特征，这可能有助于其他患者的诊断。
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本文引用的文献
1
Extending the critical regions for mutations in the non-coding gene in another patient with Roifman Syndrome.
Clin Case Rep. 2018 Oct 11;6(11):2224-2228. doi: 10.1002/ccr3.1830. eCollection 2018 Nov.
2
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J Allergy Clin Immunol. 2018 Aug;142(2):630-646. doi: 10.1016/j.jaci.2017.11.061. Epub 2018 Jan 31.
3
A homozygous mutation in the stem II domain of causes typical Roifman syndrome.
NPJ Genom Med. 2017 Jul 10;2:23. doi: 10.1038/s41525-017-0024-5. eCollection 2017.
4
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.
Sci Rep. 2017 Jun 16;7(1):3702. doi: 10.1038/s41598-017-02434-4.
5
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718.
6
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases.
Int J Immunogenet. 2011 Dec;38(6):501-5. doi: 10.1111/j.1744-313X.2011.01041.x. Epub 2011 Oct 7.
7
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Am J Med Genet A. 2011 Oct;155A(10):2560-5. doi: 10.1002/ajmg.a.34215. Epub 2011 Sep 9.
8
The cognitive and behavioural phenotype of Roifman syndrome.
J Intellect Disabil Res. 2006 Sep;50(Pt 9):690-6. doi: 10.1111/j.1365-2788.2006.00817.x.
9
Noncompaction of the myocardium associated with Roifman syndrome.
Cardiol Young. 2001 Mar;11(2):240-3. doi: 10.1017/s1047951101000208.
10
Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome.
Clin Genet. 1999 Feb;55(2):103-9. doi: 10.1034/j.1399-0004.1999.550206.x.
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