Variable presentation of disseminated nontuberculous mycobacterial infections in a family with an interferon-γ receptor mutation

被引：15

作者：

Han, JY

Rosenzweig, SD

Church, JA

Holland, SM

Ross, LA

机构：

[1] Childrens Hosp Los Angeles, Div Infect Dis, Los Angeles, CA 90033 USA

[2] Childrens Hosp Los Angeles, Div Gen Pediat, Los Angeles, CA 90033 USA

[3] Childrens Hosp Los Angeles, Div Clin Immunol & Allergy, Los Angeles, CA 90033 USA

[4] Univ So Calif, Keck Sch Med, Los Angeles, CA USA

[5] NIH, Lab Clin Infect Dis, Bethesda, MD 20892 USA

来源：

CLINICAL INFECTIOUS DISEASES | 2004年 / 39卷 / 06期

关键词：

D O I：

10.1086/423804

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

A previously healthy 13-year-old child who had disseminated Mycobacterium avium infection is described. Further history revealed disseminated mycobacterial infections in the patient's father and uncle, starting at 9 years old and 1 year old, respectively. Autosomal dominant interferon-gamma receptor mutation was subsequently identified. Clinical variability among the affected members of the same family is consistent with previous reports suggesting substantial variability in the clinical course of this disorder.

引用

页码：868 / 870

页数：3

共 18 条

[1] Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection [J].

Altare, F ;

Lammas, D ;

Revy, P ;

Jouanguy, E ;

Döffinger, R ;

Lamhamedi, S ;

Drysdale, P ;

Scheel-Toellner, D ;

Girdlestone, J ;

Darbyshire, P ;

Wadhwa, M ;

Dockrell, H ;

Salmon, M ;

Fischer, A ;

Durandy, A ;

Casanova, JL ;

Kumararatne, DS .

JOURNAL OF CLINICAL INVESTIGATION, 1998, 102 (12) :2035-2040

[2] IMMUNOLOGICAL CONDITIONS OF CHILDREN WITH BCG DISSEMINATED INFECTION [J].

CASANOVA, JL ;

JOUANGUY, E ;

LAMHAMEDI, S ;

BLANCHE, S ;

FISCHER, A .

LANCET, 1995, 346 (8974) :581-581

[3] Genetic dissection of immunity to mycobacteria: The human model [J].

Casanova, JL ;

Abel, L .

ANNUAL REVIEW OF IMMUNOLOGY, 2002, 20 :581-620

[4] Impaired accumulation and function of memory CD4 T cells in human IL-12 receptor β1 deficiency [J].

Cleary, AM ;

Tu, WW ;

Enright, A ;

Giffon, T ;

Dewaal-Malefyt, R ;

Gutierrez, K ;

Lewis, DB .

JOURNAL OF IMMUNOLOGY, 2003, 170 (01) :597-603

[5]

de Jong R, 1998, SCIENCE, V280, P1435

[6] Viral infections in interferon-γ receptor deficiency [J].

Dorman, SE ;

Uzel, G ;

Roesler, J ;

Bradley, JS ;

Bastian, J ;

Billman, G ;

King, S ;

Filie, A ;

Schermerborn, J ;

Holland, SM .

JOURNAL OF PEDIATRICS, 1999, 135 (05) :640-643

[7] The three Es of cancer immunoediting [J].

Dunn, GP ;

Old, LJ ;

Schreiber, RD .

ANNUAL REVIEW OF IMMUNOLOGY, 2004, 22 :329-360

[8]

ENGBAEK HC, 1964, ACTA TUBERC PNEUM SC, V45, P105

[9] The role of interleukin-12 in human infectious diseases: only a faint signature [J].

Fieschi, C ;

Casanova, JL .

EUROPEAN JOURNAL OF IMMUNOLOGY, 2003, 33 (06) :1461-1464

[10]

FOGUN L, 1970, MEDICINE, V49, P243

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