Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency

被引：56

作者：

Albuquerque, W

Gaspar, HB ^{[1
]}

机构：

[1] UCL, Inst Child Hlth, Mol Immunol Unit, London WC1N 1EH, England

[2] Great Ormond St Hosp Sick Children, Dept Audiol, London WC1N 3JH, England

来源：

JOURNAL OF PEDIATRICS | 2004年 / 144卷 / 02期

关键词：

D O I：

10.1016/j.jpeds.2003.10.055

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Adenosine deaminase deficiency presents with severe combined immunodeficiency and is treatable by bone marrow transplantation. With improved survival, the nonimmunologic manifestations of this condition are becoming apparent. We report a high incidence of bilateral sensorineural deafness in transplanted patients, which highlights the systemic nature of the disease.

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页码：278 / 280

页数：3

相关论文

共 13 条

[1]

ADAMS A, 1976, CLIN EXP IMMUNOL, V26, P647

[2] Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning [J].

Aiuti, A ;

Slavin, S ;

Aker, M ;

Ficara, F ;

Deola, S ;

Mortellaro, A ;

Morecki, S ;

Andolfi, G ;

Tabucchi, A ;

Carlucci, F ;

Marinello, E ;

Cattaneo, F ;

Vai, S ;

Servida, P ;

Miniero, R ;

Roncarolo, MG ;

Bordignon, C .

SCIENCE, 2002, 296 (5577) :2410-2413

[3] Hepatic dysfunction as a complication of adenosine deaminase deficiency [J].

Bollinger, ME ;

ArredondoVega, FX ;

Santisteban, I ;

Schwarz, K ;

Hershfield, MS ;

Lederman, HM .

NEW ENGLAND JOURNAL OF MEDICINE, 1996, 334 (21) :1367-1371

[4]

British Society of Audiology Recommendation, 1988, BRIT J AUDIOL, V22, P123, DOI DOI 10.3109/03005368809077807

[5] CHONDRO-OSSEOUS DYSPLASIA OF ADENOSINE-DEAMINASE DEFICIENCY WITH SEVERE COMBINED IMMUNODEFICIENCY [J].

CEDERBAUM, SD ;

KAITILA, I ;

RIMOIN, DL ;

STIEHM, ER .

JOURNAL OF PEDIATRICS, 1976, 89 (05) :737-742

[6] Naturally occurring primary deficiencies of the immune system [J].

Fischer, A ;

CavazzanaCalvo, M ;

DesaintBasile, G ;

DeVillartay, JP ;

DiSanto, JP ;

Hivroz, C ;

RieuxLaucat, F ;

LeDeist, F .

ANNUAL REVIEW OF IMMUNOLOGY, 1997, 15 :93-124

[7] PEG-ADA - AN ALTERNATIVE TO HAPLOIDENTICAL BONE-MARROW TRANSPLANTATION AND AN ADJUNCT TO GENE-THERAPY FOR ADENOSINE-DEAMINASE DEFICIENCY [J].

HERSHFIELD, MS .

HUMAN MUTATION, 1995, 5 (02) :107-112

[8]

Hershfield MS, 1995, METABOLIC MOL BASES, V2, P1725

[9]

HIRSCHHORN R, 1993, PEDIATR RES, V33, pS35

[10] AMELIORATION OF NEUROLOGIC ABNORMALITIES AFTER ENZYME REPLACEMENT IN ADENOSINE-DEAMINASE DEFICIENCY [J].

HIRSCHHORN, R ;

PAPAGEORGIOU, PS ;

KESARWALA, HH ;

TAFT, LT .

NEW ENGLAND JOURNAL OF MEDICINE, 1980, 303 (07) :377-380