A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: An additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes

被引：33

作者：

Ariga, T ^{[1
]}

Yamada, M

Sakiyama, Y

Tatsuzawa, O

机构：

[1] Hokkaido Univ, Sch Med, Dept Pediat, Sapporo, Hokkaido 060, Japan

[2] Natl Childrens Hosp, Div Infect Dis & Rhematol, Tokyo 154, Japan

来源：

BLOOD | 1998年 / 92卷 / 02期

关键词：

D O I：

10.1182/blood.V92.2.699

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：699 / 701

页数：3

共 9 条

[1]

Ariga T, 1997, HUM MUTAT, V10, P310

[2] Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members' carrier status using three different methods [J].

Ariga, T ;

Yamada, M ;

Sakiyama, Y .

PEDIATRIC RESEARCH, 1997, 41 (04) :535-540

[3] ISOLATION OF A NOVEL GENE MUTATED IN WISKOTT-ALDRICH SYNDROME [J].

DERRY, JMJ ;

OCHS, HD ;

FRANCKE, U .

CELL, 1994, 78 (04) :635-644

[4] Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency [J].

Hirschhorn, R ;

Yang, DRX ;

Puck, JM ;

Huie, ML ;

Jiang, CK ;

Kurlandsky, LE .

NATURE GENETICS, 1996, 13 (03) :290-295

[5] WASPbase: A database of WAS- and XLT-causing mutations [J].

Schwarz, K .

IMMUNOLOGY TODAY, 1996, 17 (11) :496-502

[6] Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells [J].

Stephan, V ;

Wahn, V ;

LeDeist, F ;

Dirksen, U ;

Broker, B ;

MullerFleckenstein, I ;

Horneff, G ;

Schroten, H ;

Fischer, A ;

Basile, GD .

NEW ENGLAND JOURNAL OF MEDICINE, 1996, 335 (21) :1563-1567

[7] Studies of the expression of the Wiskott-Aldrich syndrome protein [J].

Stewart, DM ;

TreiberHeld, S ;

Kurman, CC ;

Facchetti, F ;

Notarangelo, LD ;

Nelson, DL .

JOURNAL OF CLINICAL INVESTIGATION, 1996, 97 (11) :2627-2634

[8] X-LINKED THROMBOCYTOPENIA AND WISKOTT-ALDRICH SYNDROME ARE ALLELIC DISEASES WITH MUTATIONS IN THE WASP GENE [J].

VILLA, A ;

NOTARANGELO, L ;

MACCHI, P ;

MANTUANO, E ;

CAVAGNI, G ;

BRUGNONI, D ;

STRINA, D ;

PATROSSO, MC ;

RAMENGHI, U ;

SACCO, MG ;

UGAZIO, A ;

VEZZONI, P .

NATURE GENETICS, 1995, 9 (04) :414-417

[9] NONRANDOM INACTIVATION OF THE X-CHROMOSOME IN EARLY LINEAGE HEMATOPOIETIC-CELLS IN CARRIERS OF WISKOTT-ALDRICH SYNDROME [J].

WENGLER, G ;

GORLIN, JB ;

WILLIAMSON, JM ;

ROSEN, FS ;

BING, DH .

BLOOD, 1995, 85 (09) :2471-2477

← 1 →