Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases

被引：98

作者：

Conti, Francesca ^{[1
,2
,3
]}

Oswaldo Lugo-Reyes, Saul ^{[1
,2
,4
]}

Blancas Galicia, Lizbeth ^{[1
,2
,4
]}

He, Jianxin ^{[5
]}

Aksu, Guzide ^{[6
]}

de Oliveira, Edgar Borges, Jr. ^{[1
,2
,7
]}

Deswarte, Caroline ^{[1
,2
]}

Hubeau, Marjorie ^{[1
,2
]}

Karaca, Neslihan ^{[6
]}

de Suremain, Maylis ^{[1
,2
]}

Guerin, Antoine ^{[1
,2
]}

Baba, Laila Ait ^{[8
]}

Prando, Carolina ^{[9
]}

Guerrero, Gloria G. ^{[1
,2
]}

Emiroglu, Melike ^{[10
]}

Oz, Fatma Nur ^{[11
]}

Yamazaki Nakashimada, Marco Antonio ^{[12
]}

Gonzalez Serrano, Edith ^{[12
]}

Espinosa, Sara ^{[12
]}

Barlan, Isil ^{[13
]}

Perez, Nestor ^{[14
]}

Regairaz, Lorena ^{[14
]}

Guidos Morales, Hector Eduardo ^{[15
]}

Bezrodnik, Liliana ^{[16
]}

Di Giovanni, Daniela ^{[16
]}

Dbaibo, Ghassan ^{[17
]}

Ailal, Fatima ^{[18
]}

Galicchio, Miguel ^{[19
]}

Oleastro, Matias ^{[20
]}

Chemli, Jalel ^{[21
]}

Danielian, Silvia ^{[20
]}

Perez, Laura ^{[20
]}

Claudia Ortega, Maria ^{[22
,23
]}

Soto Lavin, Susana ^{[24
]}

Hertecant, Joseph ^{[25
]}

Anal, Ozden ^{[26
]}

Kechout, Nadia ^{[27
]}

Al-Idrissi, Eman ^{[28
]}

ElGhazali, Gehad ^{[28
]}

Bondarenko, Anastasia ^{[29
]}

Chernyshova, Liudmyla ^{[29
]}

Ciznar, Peter ^{[30
]}

Herbigneaux, Rose-Marie ^{[31
]}

Diabate, Aminata ^{[32
]}

Ndaga, Stephanie ^{[32
,33
]}

Konte, Barik ^{[32
]}

Czarna, Ambre ^{[32
]}

Migaud, Melanie ^{[1
]}

Pedraza-Sanchez, Sigifredo ^{[35
]}

Bano Zaidi, Mussaret ^{[36
,37
]}

机构：

[1] Inst Natl Sante & Rech Med, Lab Human Genet Infect Dis, Necker Branch, Paris, France

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

[3] Univ Roma Tor Vergata, Dept Publ Hlth & Cellular Biol, Rome, Italy

[4] Natl Inst Pediat, Immunodeficiencies Res Unit, Mexico City, DF, Mexico

[5] Beijing Childrens Hosp, Nanlishilu Rd 56, Beijing, Peoples R China

[6] Ege Univ, Dept Pediat, Fac Med, Izmir, Turkey

[7] Univ Sao Paulo, Dept Immunol, Inst Biomed Sci, BR-05508 Sao Paulo, Brazil

[8] King Hassan II Univ, Lab Biol & Hlth UARC34, Metab & Immunol Pathol Res Team, Fac Sci Ben Msik, Casablanca, Morocco

[9] Pele Pequeno Principe Res Inst, Bioinformat Lab, Curitiba, Parana, Brazil

[10] Necmettin Erbakan Univ, Meram Med Fac, Dept Pediat Infect Dis, Konya, Turkey

[11] Dr Sami Ulus Matern & Childrens Res & Training Ho, Pediat Infect Dis Dept, Ankara, Turkey

[12] Natl Inst Pediat, Dept Immunol, Mexico City, DF, Mexico

[13] Marmara Univ, Dept Pediat Allergy & Immunol, Istanbul, Turkey

[14] Childrens Hosp Super Sor Maria Ludovica, Immunol Unit, La Plata, Buenos Aires, Argentina

[15] Natl Childrens Hosp Benjamin Bloom, Allergy & Immunol Unit, San Salvador, El Salvador

[16] Childrens Hosp Ricardo Gutierrez, Immunol Unit, Buenos Aires, DF, Argentina

[17] Amer Univ Beirut, Med Ctr, Dept Pediat, Beirut, Lebanon

[18] King Hassan II Univ, Clin Immunol Unit, Casablanca Childrens Hosp, Ibn Rochd Med Sch, Casablanca, Morocco

[19] Childrens Hosp Victor J Vilela, Rosario, Argentina

[20] Juan Pedro Garrahan Natl Hosp Pediat, Dept Immunol, Buenos Aires, DF, Argentina

[21] Sahloul Hosp, Dept Pediat, Sousse, Tunisia

[22] Childrens Hosp San Jose, Bogota, Colombia

[23] Sch Med, Bogota, Colombia

[24] Concepc Reg Hosp, Concepcion, Chile

[25] Tawam Hosp, Dept Pediat, Abu Dhabi, U Arab Emirates

[26] Dokuz Eylul Univ, Dept Pediat, Fac Med, Izmir, Turkey

[27] Pasteur Inst Algeria, Dept Immunol, Dely Ibrahim, Algeria

[28] King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia

[29] Dept Pediat Infect Dis & Clin Immunol, Kiev, Ukraine

[30] Comenius Univ, Univ Childrens Hosp, Sch Med, Dept Pediat, Bratislava, Slovakia

[31] Reunion CHU, Hematol Oncol Unit, St Denis, Reunion, France

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

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

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

[35] Natl Inst Med Sci & Nutr Salvador Zubiran, Biochem Unit, Tlalpan, Mexico

[36] Hosp Reg Alta Especialidad Peninsula Yucatan, Microbiol Res Lab, Hosp Gen OHoran, Merida, Venezuela

[37] Hosp Reg Alta Especialidad Peninsula Yucatan, Infect Dis Res Unit, Merida, Venezuela

[38] Pasteur Inst Tunis, Lab Cytoimmunol, Tunis, Tunisia

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

[40] Necker Hosp Sick Children, AP HP, French Reference Ctr Primary Immune Deficiencies, Paris, France

[41] King Saud Univ, Dept Pediat, Prince Naif Ctr Immunol Res, Coll Med, Riyadh, Saudi Arabia

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

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2016年 / 138卷 / 01期

基金：

巴西圣保罗研究基金会;

关键词：

Mycobacteria; BCG; chronic granulomatous disease; tuberculosis; primary immunodeficiency; CLINICAL-FEATURES; 1ST REPORT; 2; CHILDREN; TUBERCULOSIS; MUTATIONS; INFECTIONS; SUSCEPTIBILITY; VACCINATION; OXIDASE; REGION;

D O I：

10.1016/j.jaci.2015.11.041

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by inborn errors of the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex. From the first year of life onward, most affected patients display multiple, severe, and recurrent infections caused by bacteria and fungi. Mycobacterial infections have also been reported in some patients. Objective: Our objective was to assess the effect of mycobacterial disease in patients with CGD. Methods: We analyzed retrospectively the clinical features of mycobacterial disease in 71 patients with CGD. Tuberculosis and BCG disease were diagnosed on the basis of microbiological, pathological, and/or clinical criteria. Results: Thirty-one (44%) patients had tuberculosis, and 53 (75%) presented with adverse effects of BCG vaccination; 13 (18%) had both tuberculosis and BCG infections. None of these patients displayed clinical disease caused by environmental mycobacteria, Mycobacterium leprae, or Mycobacterium ulcerans. Most patients (76%) also had other pyogenic and fungal infections, but 24% presented solely with mycobacterial disease. Most patients presented a single localized episode of mycobacterial disease (37%), but recurrence (18%), disseminated disease (27%), and even death (18%) were also observed. One common feature in these patients was an early age at presentation for BCG disease. Mycobacterial disease was the first clinical manifestation of CGD in 60% of these patients. Conclusion: Mycobacterial disease is relatively common in patients with CGD living in countries in which tuberculosis is endemic, BCG vaccine is mandatory, or both. Adverse reactions to BCG and severe forms of tuberculosis should lead to a suspicion of CGD. BCG vaccine is contraindicated in patients with CGD.

引用

页码：241 / +

页数：11

共 52 条

[1] Comparison of the roles of reactive oxygen and nitrogen intermediates in the host response to Mycobacterium tuberculosis using transgenic mice [J].

Adams, LB ;

Dinauer, MC ;

Morgenstern, DE ;

Krahenbuhl, JL .

TUBERCLE AND LUNG DISEASE, 1997, 78 (5-6) :237-246

[2] DISSEMINATED MYCOBACTERIUM-FLAVESCENS IN A PROBABLE CASE OF CHRONIC GRANULOMATOUS-DISEASE [J].

ALLEN, DM ;

CHNG, HH .

JOURNAL OF INFECTION, 1993, 26 (01) :83-86

[3] Chronic Granulomatous Disease in Morocco: Genetic, Immunological, and Clinical Features of 12 Patients from 10 Kindreds [J].

Baba, Laila Ait ;

Ailal, Fatima ;

El Hafidi, Naima ;

Hubeau, Marjorie ;

Jabot-Hanin, Fabienne ;

Benajiba, Noufissa ;

Aadam, Zahra ;

Conti, Francesca ;

Deswarte, Caroline ;

Jeddane, Leila ;

Aglaguel, Ayoub ;

El Maataoui, Ouafaa ;

Tissent, Ahmed ;

Mahraoui, Chafiq ;

Najib, Jilali ;

Martinez-Barricarte, Ruben ;

Abel, Laurent ;

Habti, Norddine ;

Saile, Rachid ;

Casanova, Jean-Laurent ;

Bustamante, Jacinta ;

Salih Alj, Hanane ;

Aziz Bousfiha, Ahmed .

JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (04) :452-458

[4] X-linked chronic granulomatous disease - First report of mutations in patients of Argentina [J].

Barese, C ;

Copelli, S ;

Zandomeni, RN ;

Oleastro, M ;

Zelazko, M ;

Rivas, EM .

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 2004, 26 (10) :656-660

[5] Inherited and acquired immunodeficiencies underlying tuberculosis in childhood [J].

Boisson-Dupuis, Stephanie ;

Bustamante, Jacinta ;

El-Baghdadi, Jamila ;

Camcioglu, Yildiz ;

Parvaneh, Nima ;

El Azbaoui, Safaa ;

Agader, Aomar ;

Hassani, Amal ;

El Hafidi, Naima ;

Mrani, Nidal Alaoui ;

Jouhadi, Zineb ;

Ailal, Fatima ;

Najib, Jilali ;

Reisli, Ismail ;

Zamani, Adil ;

Yosunkaya, Sebnem ;

Gulle-Girit, Saniye ;

Yildiran, Alisan ;

Cipe, Funda Erol ;

Torun, Selda Hancerli ;

Metin, Ayse ;

Atikan, Basak Yildiz ;

Hatipoglu, Nevin ;

Aydogmus, Cigdem ;

Kilic, Sara Sebnem ;

Dogu, Figen ;

Karaca, Neslihan ;

Aksu, Guzide ;

Kutukculer, Necil ;

Keser-Emiroglu, Melike ;

Somer, Ayper ;

Tanir, Gonul ;

Aytekin, Caner ;

Adimi, Parisa ;

Mahdaviani, Seyed Alireza ;

Mamishi, Setareh ;

Bousfiha, Aziz ;

Sanal, Ozden ;

Mansouri, Davood ;

Casanova, Jean-Laurent ;

Abel, Laurent .

IMMUNOLOGICAL REVIEWS, 2015, 264 (01) :103-120

[6] 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)

[7] A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease [J].

Bustamante, Jacinta ;

Picard, Capucine ;

Fieschi, Claire ;

Filipe-Santos, Orchidee ;

Feinberg, Jacqueline ;

Perronne, Christian ;

Chapgier, Ariane ;

de Beaucoudrey, Ludovic ;

Vogt, Guillaume ;

Sanlaville, Damien ;

Lemainque, Arnaud ;

Emile, Jean-Francois ;

Abel, Laurent ;

Casanova, Jean-Laurent .

JOURNAL OF MEDICAL GENETICS, 2007, 44 (02) :e65

[8] BCG-osis and tuberculosis in a child with chronic granulomatous disease [J].

Bustamante, Jacinta ;

Aksu, Guzide ;

Vogt, Guillaume ;

De Beaucoudrey, Ludovic ;

Genel, Ferah ;

Chapgier, Ariane ;

Filipe-Santos, Orchide ;

Feinberg, Jacqueline ;

Emile, Jean-Francois ;

Kutukculer, Necil ;

Casanova, Jean-Laurent .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2007, 120 (01) :32-38

[9] Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease [J].

Bustamante, Jacinta ;

Arias, Andres A. ;

Vogt, Guillaume ;

Picard, Capucine ;

Blancas Galicia, Lizbeth ;

Prando, Carolina ;

Grant, Audrey V. ;

Marchal, Christophe C. ;

Hubeau, Marjorie ;

Chapgier, Ariane ;

de Beaucoudrey, Ludovic ;

Puel, Anne ;

Feinberg, Jacqueline ;

Valinetz, Ethan ;

Janniere, Lucile ;

Besse, Celine ;

Boland, Anne ;

Brisseau, Jean-Marie ;

Blanche, Stephane ;

Lortholary, Olivier ;

Fieschi, Claire ;

Emile, Jean-Francois ;

Boisson-Dupuis, Stephanie ;

Al-Muhsen, Saleh ;

Woda, Bruce ;

Newburger, Peter E. ;

Condino-Neto, Antonio ;

Dinauer, Mary C. ;

Abel, Laurent ;

Casanova, Jean-Laurent .

NATURE IMMUNOLOGY, 2011, 12 (03) :213-U47

[10] Clinical and laboratory aspects of chronic granulomatous disease in description of eighteen patients [J].

Carnide, EG ;

Jacob, CA ;

Castro, AM ;

Pastorino, AC .

PEDIATRIC ALLERGY AND IMMUNOLOGY, 2005, 16 (01) :5-9

← 1 2 3 4 5 6 →