Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies

被引：29

作者：

Parvaneh, Nima ^{[1
,2
]}

Barlogis, Vincent ^{[3
]}

Alborzi, Abdolvahab ^{[4
,5
]}

Deswarte, Caroline ^{[6
,7
]}

Boisson-Dupuis, Stephanie ^{[6
,7
]}

Migaud, Melanie ^{[6
,7
,8
]}

Farnaria, Catherine ^{[9
]}

Markle, Janet ^{[8
]}

Parvaneh, Leila ^{[2
]}

Casanova, Jean-Laurent ^{[6
,7
,8
,10
,11
]}

Bustamante, Jacinta ^{[6
,7
,8
,12
]}

机构：

[1] Univ Tehran Med Sci, Div Allergy & Clin Immunol, Dept Pediat, 62 Gharib St, Tehran 14194, Iran

[2] Childrens Med Ctr, Res Ctr Immunodeficiencies, Tehran, Iran

[3] Timone Hosp Children, Pediat Hematol Oncol Unit, Marseille, France

[4] Shiraz Univ Med Sci, Prof Alborzi Clin Microbiol Res Ctr, Shiraz, Iran

[5] Shiraz Univ Med Sci, Dept Med Parasitol & Mycol, Shiraz, Iran

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

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

[8] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA

[9] Concept Hosp, Immunol Lab, Marseille, France

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

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

[12] Necker Enfants Malad Hosp, AP HP, Ctr Study Primary Immunodeficiencies, Paris, France

来源：

PEDIATRIC BLOOD & CANCER | 2017年 / 64卷 / 06期

基金：

美国国家科学基金会; 美国国家卫生研究院;

关键词：

BCG; IFN-gamma; IL-12; leishmania; primary immunodeficiency; salmonella; candida; INTERLEUKIN-12; IL-12; MICE DEFICIENT; SUSCEPTIBILITY; INFECTION; RESPONSES; DONOVANI; LIGAND; CD40;

D O I：

10.1002/pbc.26362

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Mutations of the IL12B and IL12RB1 genes underlie the development of IL-12 p40 and IL-12R beta 1 deficiencies, respectively, both of which cause predisposition to infection with weakly virulent mycobacteria and Salmonella. Infections with other intramacrophagic organisms have only been rarely observed. We identified two patients with visceral leishmaniasis who had autosomal recessive IL-12 p40 and IL-12R beta 1 deficiencies, respectively. This finding demonstrates the importance of IFN-gamma immunity in the control of leishmaniasis. We also searched the literature for similar reports in patients with these and other primary immunodeficiencies.

引用

页数：5

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