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

共 50 条

[41] Principal role of IL-12p40 in the decreased Th1 and Th17 responses driven by dendritic cells of mice lacking IL-12 and IL-18 [J].

Lim, Hui Xuan ;

Hong, Hye-Jin ;

Jung, Mi Young ;

Cho, Daeho ;

Kim, Tae Sung .

CYTOKINE, 2013, 63 (02) :179-186

[42] IL-12p40 deletion aggravates lipopolysaccharide-induced cardiac dysfunction in mice [J].

Liu, Menglin ;

Wang, Zhen ;

Zhang, Jishou ;

Ye, Di ;

Wang, Menglong ;

Xu, Yao ;

Zhao, Mengmeng ;

Feng, Yongqi ;

Lu, Xiyi ;

Pan, Heng ;

Pan, Wei ;

Wei, Cheng ;

Tian, Dan ;

Li, Wenqiang ;

Lyu, Jingjun ;

Ye, Jing ;

Wan, Jun .

FRONTIERS IN CARDIOVASCULAR MEDICINE, 2022, 9

[43] IL-12p40 gene expression in lung and hilar lymph nodes of MPS-resistant pigs [J].

Sakuma, Akiko ;

Sugawara, Shizuka ;

Hidaka, Hikaru ;

Nakajo, Mitsuru ;

Suda, Yoshihito ;

Shimazu, Tomoyuki ;

Rose, Michael T. ;

Urakawa, Megumi ;

Zhuang, Tao ;

Zhao, Guoqi ;

Watanabe, Kouichi ;

Nochi, Tomonori ;

Kitazawa, Haruki ;

Katoh, Kazuo ;

Suzuki, Keiichi ;

Aso, Hisashi .

ANIMAL SCIENCE JOURNAL, 2020, 91 (01)

[44] Interferon gamma, IL-12, IL-12R and STAT-1 immunodeficiency diseases: disorders of the interface of innate and adaptive immunity [J].

Steven M. Holland .

Immunologic Research, 2007, 38 :342-346

[45] Interferon gamma, IL-12, IL-12R and STAT-1 immunodeficiency diseases: disorders of the interface of innate and adaptive immunity [J].

Holland, Steven M. .

IMMUNOLOGIC RESEARCH, 2007, 38 (1-3) :342-346

[46] Suppression of Regulatory T Cells by IL-12p40 Homodimer via Nitric Oxide [J].

Brahmachari, Saurav ;

Pahan, Kalipada .

JOURNAL OF IMMUNOLOGY, 2009, 183 (03) :2045-2058

[47] IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey [J].

Boisson-Dupuis, Stephanie ;

El Baghdadi, Jamila ;

Parvaneh, Nima ;

Bousfiha, Aziz ;

Bustamante, Jacinta ;

Feinberg, Jacqueline ;

Samarina, Arina ;

Grant, Audrey V. ;

Janniere, Lucile ;

El Hafidi, Naima ;

Hassani, Amal ;

Nolan, Daniel ;

Najib, Jilali ;

Camcioglu, Yildiz ;

Hatipoglu, Nevin ;

Aydogmus, Cigdem ;

Tanir, Gonul ;

Aytekin, Caner ;

Keser, Melike ;

Somer, Ayper ;

Aksu, Guside ;

Kutukculer, Necil ;

Mansouri, Davood ;

Mahdaviani, Alireza ;

Mamishi, Setareh ;

Alcais, Alexandre ;

Abel, Laurent ;

Casanova, Jean-Laurent .

PLOS ONE, 2011, 6 (04)

[48] Inherited IL-12p40 Deficiency Genetic, Immunologic, and Clinical Features of 49 Patients From 30 Kindreds [J].

Prando, Carolina ;

Samarina, Arina ;

Bustamante, Jacinta ;

Boisson-Dupuis, Stephanie ;

Cobat, Aurelie ;

Picard, Capucine ;

AlSum, Zobaida ;

Al-Jumaah, Suliman ;

Al-Hajjar, Sami ;

Frayha, Husn ;

Al-Mousa, Hamoud ;

Ben-Mustapha, Imen ;

Adimi, Parisa ;

Feinberg, Jacqueline ;

de Suremain, Maylis ;

Janniere, Lucile ;

Filipe-Santos, Orchidee ;

Mansouri, Nahal ;

Stephan, Jean-Louis ;

Nallusamy, Revathy ;

Kumararatne, Dinakantha S. ;

Bloorsaz, Mohamad Reza ;

Ben-Ali, Meriem ;

Elloumi-Zghal, Houda ;

Chemli, Jalel ;

Bouguila, Jihene ;

Bejaoui, Mohamed ;

Alaki, Emadia ;

AlFawaz, Tariq S. ;

Al Idrissi, Eman ;

ElGhazali, Gehad ;

Pollard, Andrew J. ;

Murugasu, Belinda ;

Lee, Bee Wah ;

Halwani, Rabih ;

Al-Zahrani, Mohammed ;

Al Shehri, Mohammed A. ;

Al-Zahrani, Mofareh ;

Bin-Hussain, Ibrahim ;

Mahdaviani, Seyed Alireza ;

Parvaneh, Nima ;

Abel, Laurent ;

Mansouri, Davood ;

Barbouche, Ridha ;

Al-Muhsen, Saleh ;

Casanova, Jean-Laurent .

MEDICINE, 2013, 92 (02) :109-122

[49] Mycobacterium tuberculosis infection induces il12rb1 splicing to generate a novel IL-12Rβ1 isoform that enhances DC migration [J].

Robinson, Richard T. ;

Khader, Shabaana A. ;

Martino, Cynthia A. ;

Fountain, Jeffrey J. ;

Teixeira-Coelho, Maria ;

Pearl, John E. ;

Smiley, Stephen T. ;

Winslow, Gary M. ;

Woodland, David L. ;

Walter, Michael J. ;

Conejo-Garcia, Jose R. ;

Gubler, Ueli ;

Cooper, Andrea M. .

JOURNAL OF EXPERIMENTAL MEDICINE, 2010, 207 (03) :591-605

[50] Regulation of IL-12p40 by HIF controls Th1/Th17 responses to prevent mucosal inflammation [J].

Marks, E. ;

Naudin, C. ;

Nolan, G. ;

Goggins, B. J. ;

Burns, G. ;

Mateer, S. W. ;

Latimore, J. K. ;

Minahan, K. ;

Plank, M. ;

Foster, P. S. ;

Callister, R. ;

Veysey, M. ;

Walker, M. M. ;

Talley, N. J. ;

Radford-Smith, G. ;

Keely, S. .

MUCOSAL IMMUNOLOGY, 2017, 10 (05) :1224-1236

← 1 2 3 4 5 →