Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities

被引：8

作者：

Adams, Stuart P. ^{[1
,2
]}

Wilson, Melanie ^{[1
]}

Harb, Elissar ^{[1
]}

Fairbanks, Lynette ^{[3
]}

Xu-Bayford, Jinhua ^{[4
,5
]}

Brown, Lucie ^{[4
,5
]}

Kearney, Laura ^{[1
]}

Madkaikar, Manisha ^{[6
]}

Gaspar, H. Bobby ^{[2
,4
,5
]}

机构：

[1] Great Ormond St Hosp Sick Children, Haematol Cellular & Mol Diagnost Serv, London WC1N 3JH, England

[2] UCL, Inst Child Hlth, Mol & Cellular Immunol, London WC1E 6BT, England

[3] St Thomas Hosp, Purine Res Lab, London, England

[4] London NHS Trust, Great Ormond St Hosp Children, Immunol Unit, London, England

[5] London NHS Trust, Great Ormond St Hosp Children, Bone Marrow Transplant Unit, London, England

[6] King Edward Mem Hosp, ICMR, Natl Inst Immunohaematol, Bombay, Maharashtra, India

来源：

CLINICAL IMMUNOLOGY | 2015年 / 161卷 / 02期

关键词：

SCID; ADA; Adenosine deaminase; Mutation; ADENOSINE-DEAMINASE DEFICIENCY; SEVERE COMBINED IMMUNODEFICIENCY; TANDEM MASS-SPECTROMETRY; MISSENSE MUTATIONS; SPLICE-SITE; PHENOTYPE; THERAPY; ONSET; EXPRESSION; ALLELES;

D O I：

10.1016/j.clim.2015.08.001

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Severe combined immunodeficiency (SCID) arises from a number of different genetic defects, one of the most common being mutations in the gene encoding adenosine deaminase (ADA). In the UK, ADA deficient SCID compromises approximately 20% of all known cases of SCID. We carried out a retrospective analysis of the ADA gene in 46 known ADA deficient SCID patients on whom DNA had been stored. Here, we report a high frequency of two previously reported mutations and provide a link between the mutations and patient ethnicity within our patient cohort. We also report on 9 novel mutations that have been previously unreported. (C) 2015 Elsevier Inc. All rights reserved.

引用

页码：174 / 179

页数：6

共 27 条

[1] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[2]

AKESON AL, 1988, J BIOL CHEM, V263, P16291

[3]

Akeson L, 1987, P NATL ACAD SCI USA, V84, P5947

[4] Adenosine deaminase deficiency: Genotype-phenotype correlations based on expressed activity of 29 mutant alleles [J].

Arredondo-Vega, FX ;

Santisteban, I ;

Daniels, S ;

Toutain, S ;

Hershfield, MS .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (04) :1049-1059

[5] Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy [J].

Arredondo-Vega, FX ;

Santisteban, I ;

Richard, E ;

Bali, P ;

Koleilat, M ;

Loubser, M ;

Al-Ghonaium, A ;

Al-Helali, M ;

Hershfield, MS .

BLOOD, 2002, 99 (03) :1005-1013

[6]

Arrendondo-Vega F X, 1998, Hum Mutat, V11, P482, DOI 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU14>3.0.CO

[7]

2-H

[8] Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution [J].

Buckley, RH .

ANNUAL REVIEW OF IMMUNOLOGY, 2004, 22 :625-655

[9] HUMAN BIOLOGY OF IRISH TINKERS - DEMOGRAPHY, ETHNOHISTORY, AND GENETICS [J].

CRAWFORD, MH ;

GMELCH, G .

SOCIAL BIOLOGY, 1974, 21 (04) :321-331

[10] Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B- SCID or Omenn syndrome [J].

Dalal, Ilan ;

Tasher, Diana ;

Somech, Raz ;

Etzioni, Amos ;

Garti, Ben-Zion ;

Lev, Dorit ;

Cohen, Sarit ;

Somekh, Eli ;

Leshinsky-Silver, Esther .

CLINICAL IMMUNOLOGY, 2011, 140 (03) :284-290

← 1 2 3 →