Defective natural killer cell function in patients with hemophagocytic lymphohistiocytosis and in first degree relatives

被引:103
作者
Sullivan, KE
Delaat, CA
Douglas, SD
Filipovich, AH
机构
[1] Childrens Hosp Philadelphia, Div Infect Dis & Immunol, Philadelphia, PA 19104 USA
[2] Childrens Hosp, Med Ctr, Div Hematol Oncol, Cincinnati, OH 45229 USA
关键词
D O I
10.1203/00006450-199810000-00001
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Hemophagocytic lymphohistiocytosis (HLH), also referred to as familial erythrophagocytic lymphohistiocytosis, is a rare disorder of infancy associated with proliferation of activated histiocytes and T cells, anemia, thrombocytopenia, and fevers. This disorder appears to be due to the uncontrolled activation of T cells producing IL-2, tumor necrosis factor-alpha, and interferon-gamma. Untreated, the disorder is universally fatal. Various deficits in immune function have been described during acute disease activity including impaired T cell function, impaired monocyte-mediated antibody-dependent cytotoxicity, impaired natural killer cell function, and impaired IL-1 production. We examined natural killer cell function in familial HLH patients to determine whether this finding was consistently associated with the disease. We also examined natural killer cell function in asymptomatic parents and siblings of patients. Impaired natural killer cell function was identified in all patients and in some family members, including obligate carrier parents. This implies that one potential genetic defect in HLH may result in depressed natural killer function, but that this may not be sufficient to reliably predict eventual progression to disease.
引用
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页码:465 / 468
页数:4
相关论文
共 31 条
[1]  
Arico M, 1996, LEUKEMIA, V10, P197
[2]   NATURAL CYTO-TOXICITY IMPAIRMENT IN FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS [J].
ARICO, M ;
NESPOLI, L ;
MACCARIO, R ;
MONTAGNA, D ;
BONETTI, F ;
CASELLI, D ;
BURGIO, GR .
ARCHIVES OF DISEASE IN CHILDHOOD, 1988, 63 (03) :292-296
[3]   Successful correction of hemophagocytic lymphohistiocytosis with related or unrelated bone marrow transplantation [J].
Baker, KS ;
DeLaat, CA ;
Steinbuch, M ;
Gross, TG ;
Shapiro, RS ;
Loechelt, B ;
Harris, R ;
Filipovich, AH .
BLOOD, 1997, 89 (10) :3857-3863
[4]  
BEJAOUI M, 1989, ARCH FR PEDIATR, V46, P733
[5]  
CHU T, 1987, LANCET, V2, P41
[6]   Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity [J].
Drappa, J ;
Vaishnaw, AK ;
Sullivan, KE ;
Chu, JL ;
Elkon, KB .
NEW ENGLAND JOURNAL OF MEDICINE, 1996, 335 (22) :1643-1649
[7]   Characteristic immune abnormalities in hemophagocytic lymphohistiocytosis [J].
Egeler, RM ;
Shapiro, R ;
Loechelt, B ;
Filipovich, A .
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 1996, 18 (04) :340-345
[8]   NATURAL-KILLER CELL-FUNCTION AND INTERFERON-PRODUCTION IN FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS [J].
EIFE, R ;
JANKA, GE ;
BELOHRADSKY, BH ;
HOLTMANN, H .
PEDIATRIC HEMATOLOGY AND ONCOLOGY, 1989, 6 (03) :265-272
[9]  
FISCHER A, 1985, PEDIATRICS, V76, P263
[10]  
GOGUS S, 1995, PEDIATR PATHOL LAB M, V15, P309