Tuberculosis in otherwise healthy adults with inherited TNF deficiency

被引：18

作者：

Arias, Andres A. ^{[1
,2
,3
]}

Neehus, Anna-Lena ^{[4
,5
]}

Ogishi, Masato ^{[3
]}

Meynier, Vincent ^{[4
,5
]}

Krebs, Adam ^{[6
,7
]}

Lazarov, Tomi ^{[6
,7
]}

Lee, Angela M. ^{[7
,8
]}

Arango-Franco, Carlos A. ^{[1
,4
,5
]}

Yang, Rui ^{[3
]}

Orrego, Julio ^{[1
]}

Corcini Berndt, Melissa ^{[4
,5
]}

Rojas, Julian ^{[1
]}

Li, Hailun ^{[4
,5
]}

Rinchai, Darawan ^{[3
]}

Erazo-Borras, Lucia ^{[1
,4
,5
]}

Han, Ji Eun ^{[3
]}

Pillay, Bethany ^{[9
,10
]}

Ponsin, Khoren ^{[3
]}

Chaldebas, Matthieu ^{[3
,5
]}

Philippot, Quentin ^{[4
,5
]}

Bohlen, Jonathan ^{[4
,5
]}

Rosain, Jeremie ^{[4
,5
,11
]}

Le Voyer, Tom ^{[4
,5
,12
]}

Janotte, Till ^{[4
,5
]}

Amarajeeva, Krishnajina ^{[4
,5
]}

Soudee, Camille ^{[4
,5
]}

Brollo, Marion ^{[13
]}

Wiegmann, Katja ^{[14
,15
]}

Marquant, Quentin ^{[13
]}

Seeleuthner, Yoann ^{[4
,5
]}

Lee, Danyel ^{[3
,4
,5
]}

Laine, Candice ^{[4
,5
]}

Kloos, Doreen ^{[16
,17
]}

Bailey, Rasheed ^{[3
]}

Bastard, Paul ^{[3
,4
,5
,18
]}

Keating, Narelle ^{[3
,19
,20
]}

Rapaport, Franck ^{[3
]}

Khan, Taushif ^{[21
]}

Moncada-Velez, Marcela ^{[1
,3
]}

Camila Carmona, Maria ^{[1
]}

Obando, Catalina ^{[1
]}

Alvarez, Jesus ^{[1
]}

Carlos Catano, Juan ^{[22
]}

Martinez-Rosado, Larry Luber ^{[23
]}

Sanchez, Juan P. ^{[1
]}

Tejada-Giraldo, Manuela ^{[1
]}

L'Honneur, Anne-Sophie ^{[24
,25
]}

Agudelo, Maria L. ^{[1
]}

Perez-Zapata, Lizet J. ^{[1
]}

Arboleda, Diana M. ^{[1
]}

机构：

[1] Univ Antioquia UdeA, Sch Med, Dept Microbiol & Parasitol, Inborn Errors Immun Grp, Medellin, Colombia

[2] Univ Antioquia UdeA, Sch Microbiol, Medellin, Colombia

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

[4] INSERM, U1163, Lab Human Genet Infect Dis, Necker Branch, Paris, France

[5] Paris Cite Univ, Imagine Inst, Paris, France

[6] Mem Sloan Kettering Canc Ctr, Immunol Program, Sloan Kettering Inst, 1275 York Ave, New York, NY 10021 USA

[7] Weill Cornell Med, Immunol & Microbial Pathogenesis Program, New York, NY USA

[8] Weill Cornell Med, Dept Microbiol & Immunol, New York, NY USA

[9] Garvan Inst Med Res, Darlinghurst, NSW, Australia

[10] UNSW Sydney, Fac Med & Hlth, Sch Clin Med, Kensington, NSW, Australia

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

[12] St Louis Hosp, AP HP, Clin Immunol Dept, Paris, France

[13] Paris Saclay Univ, INRAe UVSQ, Lab VIM Suresnes, UMR 0892, Suresnes, France

[14] Univ Cologne, Fac Med, Inst Med Microbiol Immunol & Hyg, Cologne, Germany

[15] Univ Cologne, Univ Hosp Cologne, Cologne, Germany

[16] Hannover Med Sch, Dept Pediat Pneumol Allergol & Neonatol, Hannover, Germany

[17] REBIRTH Res Ctr Translat Regenerat Med, Hannover, Germany

[18] Necker Hosp Sick Children, AP HP, Pediat Immunol Hematol & Rheumatol Unit, Paris, France

[19] Walter & Eliza Hall Inst Med Res, Melbourne, Vic, Australia

[20] Univ Melbourne, Dept Med Biol, Melbourne, Vic, Australia

[21] Jackson Lab, Farmington, CT USA

[22] Univ Antioquia UdeA, Sch Med, Dept Internal Med, Infect Dis Sect, Medellin, Colombia

[23] La Maria Hosp, Latin Amer Res Team Infectiol & Publ Hlth ELISAP, Medellin, Colombia

[24] Paris Cite Univ, Dept Virol, Paris, France

[25] Cochin Hosp, AP HP, Paris, France

[26] Univ Antioquia UdeA, Sch Med, Natl Ctr Genome Sequencing CNSG, Medellin, Colombia

[27] Univ Antioquia UdeA, Fac Engn, Dept Elect Engn, SISTEMIC Grp, Medellin, Colombia

[28] Corp Biol Res CIB, Medellin, Colombia

[29] Friedrich Alexander Univ Erlangen Nurnberg, Inst Virol, Univ Hosp Erlangen, Erlangen, Germany

[30] Univ Antioquia UdeA, Sch Med, Dept Internal Med, Dermatol Sect, Medellin, Colombia

[31] Dermatol Res Ctr CIDERM, Medellin, Colombia

[32] Univ Cologne, Ctr Mol Med Cologne, Cologne, Germany

[33] San Matteo Res Hosp, Neonatal Intens Care Unit, Pavia, Italy

[34] Swiss Fed Inst Technol, Sch Life Sci, Lausanne, Switzerland

[35] Texas Biomed Res Inst, Host Pathogen Interact Program, San Antonio, TX USA

[36] NCI, Ctr Canc Res, Lab Pathol, NIH, Bethesda, MD 20892 USA

[37] Ambroise Pare Hosp, AP HP, Dept Pathol, Boulogne, France

[38] NIAID, Lab Clin Immunol & Microbiol, Div Intramural Res, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

[39] Sidra Med, Dept Human Immunol, Doha, Qatar

[40] Hamad Bin Khalifa Univ, Coll Hlth & Life Sci, Doha, Qatar

[41] Biomed Res Endstage & Obstruct Lung Dis Hannover, Hannover, Germany

[42] Hannover Med Sch, Cluster Excellence RESIST EXC 2155, Hannover, Germany

[43] FOCH Hosp, Resp Dis Dept, Suresnes, France

[44] Versailles St Quentin Univ, Simone Veil Dept Hlth Sci, Montigny Le Bretonneux, France

[45] Howard Hughes Med Inst, New York, NY 10032 USA

[46] Necker Hosp Sick Children, AP HP, Dept Pediat, Paris, France

来源：

NATURE | 2024年 / 633卷 / 8029期

基金：

欧洲研究理事会; 美国国家卫生研究院; 英国医学研究理事会;

关键词：

TUMOR-NECROSIS-FACTOR; CHRONIC GRANULOMATOUS-DISEASE; FACTOR-ALPHA; MACROPHAGES; INFECTION; IMMUNITY; MICE; CHEMOKINES;

D O I：

10.1038/s41586-024-07866-3

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Severe defects in human IFN gamma immunity predispose individuals to both Bacillus Calmette-Guerin disease and tuberculosis, whereas milder defects predispose only to tuberculosis(1). Here we report two adults with recurrent pulmonary tuberculosis who are homozygous for a private loss-of-function TNF variant. Neither has any other clinical phenotype and both mount normal clinical and biological inflammatory responses. Their leukocytes, including monocytes and monocyte-derived macrophages (MDMs) do not produce TNF, even after stimulation with IFN gamma. Blood leukocyte subset development is normal in these patients. However, an impairment in the respiratory burst was observed in granulocyte-macrophage colony-stimulating factor (GM-CSF)-matured MDMs and alveolar macrophage-like (AML) cells(2) from both patients with TNF deficiency, TNF- or TNFR1-deficient induced pluripotent stem (iPS)-cell-derived GM-CSF-matured macrophages, and healthy control MDMs and AML cells differentiated with TNF blockers in vitro, and in lung macrophages treated with TNF blockers ex vivo. The stimulation of TNF-deficient iPS-cell-derived macrophages with TNF rescued the respiratory burst. These findings contrast with those for patients with inherited complete deficiency of the respiratory burst across all phagocytes, who are prone to multiple infections, including both Bacillus Calmette-Guerin disease and tuberculosis(3). Human TNF is required for respiratory-burst-dependent immunity to Mycobacterium tuberculosis in macrophages but is surprisingly redundant otherwise, including for inflammation and immunity to weakly virulent mycobacteria and many other infectious agents.

引用

页码：417 / +

页数：33

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