Interferon-γ and interleukin-12 pathway defects and human disease

被引：259

作者：

Dorman, SE ^{[1
]}

Holland, SM ^{[1
]}

机构：

[1] NIAID, Host Def Lab, NIH, Bethesda, MD 20892 USA

来源：

CYTOKINE & GROWTH FACTOR REVIEWS | 2000年 / 11卷 / 04期

关键词：

interferon-gamma; interferon-gamma receptor deficiency; interleukin-12; tuberculosis; mycobacteria;

D O I：

10.1016/S1359-6101(00)00010-1

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A genetic component to human mycobacterial disease susceptibility has long been postulated. Over the past five years, mutations in the interferon-gamma (IFN gamma) receptor, IL-12 receptor beta 1 (IL-12R beta 1), and IL-12 p40 genes have been recognized. These mutations are associated with heightened susceptibility to disease caused by intracellular pathogens including nontuberculous mycobacteria, vaccine-associated bacille Calmette Guerin (BCG), Salmonella species, and some viruses. We describe the genotype-phenotype correlations in IFN gamma receptor, IL-12R beta 1, and IL-12 p40 deficiency, and discuss how study of these diseases has enhanced knowledge of human host defense against mycobacteria and other intracellular pathogens. Published by Elsevier Science Ltd.

引用

页码：321 / 333

页数：13

共 96 条

[51] A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection [J].

Jouanguy, E ;

Lamhamedi-Cherradi, S ;

Lammas, D ;

Dorman, SE ;

Fondanèche, MC ;

Dupuis, S ;

Döffinger, R ;

Altare, F ;

Girdlestone, J ;

Emile, JF ;

Ducoulombier, H ;

Edgar, D ;

Clarke, J ;

Oxelius, VA ;

Brai, M ;

Novelli, V ;

Heyne, K ;

Fischer, A ;

Holland, SM ;

Kumararatne, DS ;

Schreiber, RD ;

Casanova, JL .

NATURE GENETICS, 1999, 21 (04) :370-378

[52] IL-12 and IFN-γ in host defense against mycobacteria and salmonella in mice and men [J].

Jouanguy, E ;

Döffinger, R ;

Dupuis, S ;

Pallier, A ;

Altare, F ;

Casanova, JL .

CURRENT OPINION IN IMMUNOLOGY, 1999, 11 (03) :346-351

[53] Infections in IFNGR-1-deficient children [J].

Jouanguy, E ;

Altare, F ;

LamhamediCherradi, S ;

Casanova, JL .

JOURNAL OF INTERFERON AND CYTOKINE RESEARCH, 1997, 17 (10) :583-587

[54] MICE THAT LACK THE INTERFERON-GAMMA RECEPTOR HAVE PROFOUNDLY ALTERED RESPONSES TO INFECTION WITH BACILLUS-CALMETTE-GUERIN AND SUBSEQUENT CHALLENGE WITH LIPOPOLYSACCHARIDE [J].

KAMIJO, R ;

LE, JM ;

SHAPIRO, D ;

HAVELL, EA ;

HUANG, S ;

AGUET, M ;

BOSLAND, M ;

VILCEK, J .

JOURNAL OF EXPERIMENTAL MEDICINE, 1993, 178 (04) :1435-1440

[55] IDENTIFICATION AND PURIFICATION OF NATURAL-KILLER CELL STIMULATORY FACTOR (NKSF), A CYTOKINE WITH MULTIPLE BIOLOGIC EFFECTS ON HUMAN-LYMPHOCYTES [J].

KOBAYASHI, M ;

FITZ, L ;

RYAN, M ;

HEWICK, RM ;

CLARK, SC ;

CHAN, S ;

LOUDON, R ;

SHERMAN, F ;

PERUSSIA, B ;

TRINCHIERI, G .

JOURNAL OF EXPERIMENTAL MEDICINE, 1989, 170 (03) :827-845

[56] INTERACTION BETWEEN THE COMPONENTS OF THE INTERFERON-GAMMA RECEPTOR COMPLEX [J].

KOTENKO, SV ;

IZOTOVA, LS ;

POLLACK, BP ;

MARIANO, TM ;

DONNELLY, RJ ;

MUTUKUMARAN, G ;

COOK, JR ;

GAROTTA, G ;

SILVENNOINEN, O ;

IHLE, JN ;

PESTKA, S .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (36) :20915-20921

[57]

KRAWCZAK M, 1991, HUM GENET, V86, P425

[58]

Lagrange P H, 1996, Acta Leprol, V10, P11

[59] FAMILIAL DISSEMINATED ATYPICAL MYCOBACTERIAL INFECTION IN CHILDHOOD - A HUMAN MYCOBACTERIAL SUSCEPTIBILITY GENE [J].

LEVIN, M ;

NEWPORT, MJ ;

DSOUZA, S ;

KALABALIKIS, P ;

BROWN, IN ;

LENICKER, HM ;

AGIUS, PV ;

DAVIES, EG ;

THRASHER, A ;

KLEIN, N ;

BLACKWELL, JM .

LANCET, 1995, 345 (8942) :79-83

[60] Targeted disruption of the interferon-γ receptor 2 gene results in severe immune defects in mice [J].

Lu, BF ;

Ebensperger, C ;

Dembic, Z ;

Wang, YL ;

Kvatyuk, M ;

Lu, TH ;

Coffman, RL ;

Pestka, S ;

Rothman, PB .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (14) :8233-8238

← 1 2 3 4 5 6 7 8 9 10 →