LEUKOCYTE ADHESION DEFICIENCY MIMICKING HIRSCHSPRUNG DISEASE

被引：17

作者：

RIVERAMATOS, IR

RAKITA, RM

MARISCALCO, MM

ELDER, FFB

DREYER, SA

CLEARY, TG

机构：

[1] UNIV TEXAS, SCH MED, DEPT PEDIAT, DIV INFECT DIS, HOUSTON, TX 77030 USA

[2] UNIV TEXAS, SCH MED, CTR INFECT DIS, DEPT INTERNAL MED, HOUSTON, TX 77030 USA

[3] UNIV TEXAS, SCH MED, DEPT PEDIAT, DIV NEONATOL, HOUSTON, TX 77030 USA

[4] BAYLOR COLL MED, DEPT PEDIAT, LEUKOCYTE BIOL SECT, HOUSTON, TX USA

来源：

JOURNAL OF PEDIATRICS | 1995年 / 127卷 / 05期

关键词：

D O I：

10.1016/S0022-3476(95)70169-9

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

An infant had clinical signs suggestive of Hirschsprung disease as the initial manifestation of leukocyte adhesion deficiency. Chromosome studies showed a deletion of the distal third of the long arm of one chromosome 21, and flow cytometric studies confirmed the defective expression of CD18.

引用

收藏

页码：755 / 757

页数：3

相关论文

共 17 条

[1] THE SEVERE AND MODERATE PHENOTYPES OF HERITABLE MAC-1, LFA-1 DEFICIENCY - THEIR QUANTITATIVE DEFINITION AND RELATION TO LEUKOCYTE DYSFUNCTION AND CLINICAL-FEATURES [J].

ANDERSON, DC ;

SCHMALSTEIG, FC ;

FINEGOLD, MJ ;

HUGHES, BJ ;

ROTHLEIN, R ;

MILLER, LJ ;

KOHL, S ;

TOSI, MF ;

JACOBS, RL ;

WALDROP, TC ;

GOLDMAN, AS ;

SHEARER, WT ;

SPRINGER, TA .

JOURNAL OF INFECTIOUS DISEASES, 1985, 152 (04) :668-689

[2]

ANDERSON DC, 1987, ANNU REV MED, V38, P175, DOI 10.1146/annurev.med.38.1.175

[3] SEVERE RECURRENT BACTERIAL-INFECTIONS ASSOCIATED WITH DEFECTIVE ADHERENCE AND CHEMOTAXIS IN 2 PATIENTS WITH NEUTROPHILS DEFICIENT IN A CELL-ASSOCIATED GLYCOPROTEIN [J].

BOWEN, TJ ;

OCHS, HD ;

ALTMAN, LC ;

PRICE, TH ;

VANEPPS, DE ;

BRAUTIGAN, DL ;

ROSIN, RE ;

PERKINS, WD ;

BABIOR, BM ;

KLEBANOFF, SJ ;

WEDGWOOD, RJ .

JOURNAL OF PEDIATRICS, 1982, 101 (06) :932-940

[4] ALTERATION OF THE FUNCTIONAL-EFFECTS OF GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR ON POLYMORPHONUCLEAR LEUKOCYTES BY MEMBRANE-FLUIDIZING AGENTS [J].

BUESCHER, ES ;

MCILHERAN, SM ;

BANKS, SM ;

VADHANRAJ, S .

INFECTION AND IMMUNITY, 1990, 58 (09) :3002-3008

[5]

DEGROUCHY J, 1984, CLIN ATLAS HUMAN CHR, P350

[6]

FISHER A, 1994, BLOOD, V83, P1149

[7]

HAYWARD AR, 1979, LANCET, V1, P1099

[8]

LEDEIST F, 1989, BLOOD, V74, P512

[9] LFA-1 IMMUNODEFICIENCY DISEASE - DEFINITION OF THE GENETIC-DEFECT AND CHROMOSOMAL MAPPING OF ALPHA-SUBUNIT AND BETA-SUBUNIT OF THE LYMPHOCYTE FUNCTION ASSOCIATED ANTIGEN-1 (LFA-1) BY COMPLEMENTATION IN HYBRID-CELLS [J].

MARLIN, SD ;

MORTON, CC ;

ANDERSON, DC ;

SPRINGER, TA .

JOURNAL OF EXPERIMENTAL MEDICINE, 1986, 164 (03) :855-867

[10] A GENETIC-LINKAGE MAP OF 27 MARKERS ON HUMAN CHROMOSOME-21 [J].

PETERSEN, MB ;

SLAUGENHAUPT, SA ;

LEWIS, JG ;

WARREN, AC ;

CHAKRAVARTI, A ;

ANTONARAKIS, SE .

GENOMICS, 1991, 9 (03) :407-419