Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

被引：157

作者：

Boisson-Dupuis, Stephanie ^{[1
,2
,3
]}

Bustamante, Jacinta ^{[1
,2
,3
,4
]}

El-Baghdadi, Jamila ^{[5
]}

Camcioglu, Yildiz ^{[6
]}

Parvaneh, Nima ^{[7
,8
]}

El Azbaoui, Safaa ^{[5
,9
]}

Agader, Aomar ^{[10
]}

Hassani, Amal ^{[10
]}

El Hafidi, Naima ^{[11
,12
]}

Mrani, Nidal Alaoui ^{[13
]}

Jouhadi, Zineb ^{[10
]}

Ailal, Fatima ^{[14
]}

Najib, Jilali ^{[14
]}

Reisli, Ismail ^{[15
]}

Zamani, Adil ^{[16
]}

Yosunkaya, Sebnem ^{[16
]}

Gulle-Girit, Saniye ^{[17
]}

Yildiran, Alisan ^{[18
]}

Cipe, Funda Erol ^{[19
]}

Torun, Selda Hancerli ^{[20
]}

Metin, Ayse ^{[21
]}

Atikan, Basak Yildiz ^{[22
]}

Hatipoglu, Nevin ^{[23
]}

Aydogmus, Cigdem ^{[24
]}

Kilic, Sara Sebnem ^{[25
]}

Dogu, Figen ^{[19
]}

Karaca, Neslihan ^{[26
]}

Aksu, Guzide ^{[26
]}

Kutukculer, Necil ^{[26
]}

Keser-Emiroglu, Melike ^{[27
]}

Somer, Ayper ^{[28
]}

Tanir, Gonul ^{[29
]}

Aytekin, Caner ^{[30
]}

Adimi, Parisa ^{[31
]}

Mahdaviani, Seyed Alireza ^{[31
]}

Mamishi, Setareh ^{[32
]}

Bousfiha, Aziz ^{[33
]}

Sanal, Ozden ^{[34
]}

Mansouri, Davood ^{[35
]}

Casanova, Jean-Laurent ^{[1
,2
,3
,36
,37
]}

Abel, Laurent ^{[1
,2
,3
]}

机构：

[1] Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY USA

[2] INSERM, Lab Human Genet Infect Dis, Necker Branch, Paris, France

[3] Paris Descartes Univ, Imagine Inst, Paris, France

[4] Necker Hosp Sick Children, AP HP, Ctr Study Primary Immunodeficiencies, Paris, France

[5] Mil Hosp Mohamed V, Genet Unit, Hay Riad, Rabat, Morocco

[6] Istanbul Univ, Cerrahpasa Med Sch, Pediat Infect Dis Clin Immunol & Allergy Div, Istanbul, Turkey

[7] Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Tehran, Iran

[8] Univ Tehran Med Sci, Div Allergy & Clin Immunol, Dept Pediat, Childrens Med Ctr, Tehran, Iran

[9] Ibn Tofail Univ, Fac Sci, Kenitra, Morocco

[10] Ibn Rochd Med Sch Casablanca, Childrens Hosp, Dept Pediat Infect Dis, Casablanca, Morocco

[11] Rabat Children Hosp, Med & Pharm Sch Rabat, Dept Pediat, Rabat, Morocco

[12] Medbiotechnol Ctr Med & Pharm Sch, Rabat, Morocco

[13] Mohamed V Univ, Med & Pharm Sch Rabat, Rabat Children Hosp, Dept Pediat Surg, Rabat, Morocco

[14] Hassan II Univ, Med & Pharm Sch Casablanca, Casablanca Children Hosp, Dept Pediat, Casablanca, Morocco

[15] Necmettin Erbakan Univ, Dept Pediat Immunol & Allergy, Fac Med, Konya, Turkey

[16] Necmettin Erbakan Univ, Dept Pulm Med, Fac Med, Konya, Turkey

[17] Dr Lufti Kirdar Kartal Res & Training Hosp, Dept Pediat Pulmonol, Istanbul, Turkey

[18] Ondokuz Mayis Univ, Dept Pediat Immunol Allergy, Atakum Samsun, Turkey

[19] Ankara Univ, Sch Med, Dept Pediat Immunol & Allergy, TR-06100 Ankara, Turkey

[20] Istanbul Univ, Istanbul Fac Med, Dept Pediat Infect Dis, Istanbul, Turkey

[21] Ankara Hematol Oncol Hosp Children, Pediat Immunol Div, Ankara, Turkey

[22] Ege Univ, Dept Pediat Infect Dis, Fac Med, Izmir, Turkey

[23] Bakirkoy Dr Sadi Konuk Training & Res Hosp, Dept Pediat Infect Dis, Istanbul, Turkey

[24] Kanuni Sultan Suleyman Training & Res Hosp, Dept Pediat Allergy & Immunol, Istanbul, Turkey

[25] Uludag Univ Sch Med, Dept Pediat Immunol, Bursa, Turkey

[26] Ege Univ Fac Med, Dept Pediat Immunol, Izmir, Turkey

[27] Selcuk Univ Fac Med, Dept Pediat Infect Dis, Konya, Turkey

[28] Istanbul Univ, Fac Med, Dept Pediat Infect Dis & Clin Immunol, Istanbul, Turkey

[29] Dr Sami Ulus Matern & Childrens Hlth & Dis Traini, Dept Pediat Infect Dis, Ankara, Turkey

[30] Dr Sami Ulus Matern & Childrens Hlth & Dis Traini, Dept Pediat Immunol, Ankara, Turkey

[31] Shahid Beheshti Univ Med Sci, Natl Res Inst TB & Lung Dis NRITLD, Pediat Resp Dis Res Ctr, Tehran, Iran

[32] Univ Tehran Med Sci, Dept Pediat, Pediat Infect Dis Res Ctr, Tehran, Iran

[33] King Hassan II Univ, Averroes Univ Hosp, Children Hosp, Med & Pharm Fac,Clin Immunol Unit,Pediat Infect D, Casablanca, Morocco

[34] Hacettepe Univ, Fac Med, Pediat Immunol Div, TR-06100 Ankara, Turkey

[35] Shahid Beheshti Univ Med Sci, Natl Res Inst TB & Lung Dis, Pediat Resp Dis Res Ctr, Div Infect Dis & Clin Immunol, Tehran, Iran

[36] Howard Hughes Med Inst, New York, NY USA

[37] Necker Hosp Sick Children, Pediat Hematol Immunol Unit, Paris, France

来源：

IMMUNOLOGICAL REVIEWS | 2015年 / 264卷 / 01期

基金：

欧洲研究理事会;

关键词：

primary immunodeficiency; human genetics; IFN-; children; Mendelian susceptibility to mycobacterial diseases (MSMD); DISSEMINATED MYCOBACTERIUM-AVIUM; BACILLE CALMETTE-GUERIN; ANHIDROTIC ECTODERMAL DYSPLASIA; INTERFERON-GAMMA-RECEPTOR; HYPER-IGM SYNDROME; CHRONIC GRANULOMATOUS-DISEASE; ADULT-ONSET IMMUNODEFICIENCY; BONE-MARROW-TRANSPLANTATION; NIJMEGEN BREAKAGE SYNDROME; IFN-GAMMA;

D O I：

10.1111/imr.12272

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

071005 [微生物学]; 100108 [医学免疫学];

摘要：

Tuberculosis (TB), caused by Mycobacterium tuberculosis (M.tb) and a few related mycobacteria, is a devastating disease, killing more than a million individuals per year worldwide. However, its pathogenesis remains largely elusive, as only a small proportion of infected individuals develop clinical disease either during primary infection or during reactivation from latency or secondary infection. Subacute, hematogenous, and extrapulmonary disease tends to be more frequent in infants, children, and teenagers than in adults. Life-threatening primary TB of childhood can result from known acquired or inherited immunodeficiencies, although the vast majority of cases remain unexplained. We review here the conditions conferring a predisposition to childhood clinical diseases caused by mycobacteria, including not only M.tb but also weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria. Infections with weakly virulent mycobacteria are much rarer than TB, but the inherited and acquired immunodeficiencies underlying these infections are much better known. Their study has also provided genetic and immunological insights into childhood TB, as illustrated by the discovery of single-gene inborn errors of IFN- immunity underlying severe cases of TB. Novel findings are expected from ongoing and future human genetic studies of childhood TB in countries that combine a high proportion of consanguineous marriages, a high incidence of TB, and an excellent clinical care, such as Iran, Morocco, and Turkey.

引用

页码：103 / 120

页数：18

共 253 条

[1]

Genetic predisposition to clinical tuberculosis: Bridging the gap between simple and complex inheritance [J].