Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients

被引：24

作者：

Mahdaviani, Seyed Alireza ^{[1
]}

Mansouri, Davood ^{[1
,2
,3
]}

Jamee, Mahnaz ^{[1
,4
,5
]}

Zaki-Dizaji, Majid ^{[6
,7
]}

Aghdam, Karim Rahimi ^{[1
]}

Mortaz, Esmail ^{[2
]}

Khorasanizadeh, MirHojjat ^{[7
]}

Eskian, Mahsa ^{[7
]}

Movahedi, Mahshid ^{[1
]}

Ghaffaripour, Hosseinali ^{[1
]}

Baghaie, Nooshin ^{[1
]}

Hassanzad, Maryam ^{[1
]}

Chavoshzadeh, Zahra ^{[8
]}

Mansouri, Mahboubeh ^{[8
]}

Mesdaghi, Mehrnaz ^{[8
]}

Ghaini, Mehdi ^{[1
]}

Noori, Farzad ^{[1
]}

Eskandarzadeh, Shabnam ^{[1
]}

Kahkooi, Shahram ^{[9
]}

Poorabdolah, Mihan ^{[10
]}

Tabarsi, Payam ^{[2
]}

Moniri, Afshin ^{[2
]}

Farnia, Parisa ^{[9
]}

Karimi, Abdollah ^{[11
]}

Boisson-Dupuis, Stephanie ^{[14
,15
]}

Rezaei, Nima ^{[12
,13
]}

Marjani, Majid ^{[2
]}

Casanova, Jean-Laurent ^{[14
,15
,16
,17
]}

Bustamante, Jacinta ^{[14
,15
,18
]}

Velayati, Ali Akbar ^{[1
]}

机构：

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

[2] Shahid Beheshti Univ Med Sci, Natl Res Inst TB & Lung Dis NRITLD, Clin TB & Epidemiol Res Ctr, Tehran, Iran

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

[4] Alborz Univ Med Sci, Student Res Comm, Karaj, Iran

[5] Alborz Univ Med Sci, Universal Sci Educ & Res Network USERN, Alborz Off USERN, Karaj, Iran

[6] Legal Med Org, Legal Med Res Ctr, Tehran, Iran

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

[8] Shahid Beheshti Univ Med Sci, Mofid Childrens Hosp, Immunol & Allergy Dept, Tehran, Iran

[9] Shahid Beheshti Univ Med Sci, Natl Res Inst TB & Lung Dis NRITLD, Mycobacteriol Res Ctr MRC, Tehran, Iran

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

[11] Shahid Beheshti Univ Med Sci, Mofid Childrens Hosp, Pediat Infect Res Ctr, Tehran, Iran

[12] Universal Sci Educ & Res Network USERN, Network Immun Infect Malignancy & Autoimmun NIIMA, Tehran, Iran

[13] Univ Tehran Med Sci, Sch Med, Dept Immunol, Tehran, Iran

[14] Paris Descartes Univ, Imagine Inst, Necker Hosp Sick Children, Lab Human Genet Infect Dis,Necker Branch,INSERM U, F-75015 Paris, France

[15] Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA

[16] Necker Hosp Sick Children, Pediat Hematol Immunol Unit, F-75015 Paris, France

[17] Howard Hughes Med Inst, New York, NY 10065 USA

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

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2020年 / 40卷 / 06期

基金：

美国国家卫生研究院;

关键词：

Mendelian susceptibility to mycobacterial diseases; MSMD; primary immunodeficiency; mycobacteria; BCG; Salmonella; INHERITED INTERLEUKIN-12 DEFICIENCY; GAMMA-MEDIATED IMMUNITY; IL-12R-BETA-1; DEFICIENCY; IL-12; RECEPTOR; INBORN-ERRORS; CYTOKINE; INNATE; SALMONELLA; INFECTIONS; DISORDERS;

D O I：

10.1007/s10875-020-00813-7

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare congenital condition characterized by a selective predisposition to infections caused by weakly virulent mycobacteria and other types of intra-macrophagic pathogens. The 16 genes associated with MSMD display a considerable level of allelic heterogeneity, accounting for 31 distinct disorders with variable clinical presentations and prognosis. Most of MSMD deficiencies are isolated, referred to as selective susceptibility to mycobacterial diseases. However, other deficiencies are syndromic MSMD, defined by the combination of the mycobacterial infection with another, equally common, infectious, specific phenotypes. Herein, we described a series of 32 Iranian MSMD cases identified with seven distinct types of molecular defects, all of which are involved in the interferon gamma (IFN gamma) immunity, including interleukin IL-12 receptor-beta 1 (IL-12R beta 1) deficiency (fifteen cases), IL-12p40 deficiency (ten cases), and IL-23R deficiency (three cases), as well as IFN gamma receptor 1 (IFN gamma R1) deficiency, IFN gamma receptor 2 (IFN gamma R2) deficiency, interferon-stimulated gene 15 (ISG15) deficiency, and tyrosine kinase 2 (TYK2) deficiency each in one case. Since the first report of two MSMD patients in our center, we identified 30 other affected patients with similar clinical manifestations. As the number of reported Iranian cases with MSMD diagnosis has increased in recent years and according to the national vaccination protocol, all Iranian newborns receive BCG vaccination at birth, early diagnosis, and therapeutic intervention which are required for a better outcome and also prevention of similar birth defects. Therefore, we investigated the clinical and molecular features of these 32 patients. The current report also defined novel classes of pathological mutations, further expanding our knowledge of the MSMD molecular basis and associated clinical manifestations.

引用

页码：872 / 882

页数：11

共 54 条

[1] The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases [J].

Al-Muhsen, Saleh ;

Casanova, Jean-Laurent .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2008, 122 (06) :1043-1051

[2] Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection [J].

Altare, F ;

Lammas, D ;

Revy, P ;

Jouanguy, E ;

Döffinger, R ;

Lamhamedi, S ;

Drysdale, P ;

Scheel-Toellner, D ;

Girdlestone, J ;

Darbyshire, P ;

Wadhwa, M ;

Dockrell, H ;

Salmon, M ;

Fischer, A ;

Durandy, A ;

Casanova, JL ;

Kumararatne, DS .

JOURNAL OF CLINICAL INVESTIGATION, 1998, 102 (12) :2035-2040

[3] Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-γ receptor [J].

Arend, SM ;

Janssen, R ;

Gosen, JJ ;

Waanders, H ;

de Boer, T ;

Ottenhoff, THM ;

van Dissel, JT .

NETHERLANDS JOURNAL OF MEDICINE, 2001, 59 (03) :140-151

[4] Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency [J].

Bogunovic, Dusan ;

Byun, Minji ;

Durfee, Larissa A. ;

Abhyankar, Avinash ;

Sanal, Ozden ;

Mansouri, Davood ;

Salem, Sandra ;

Radovanovic, Irena ;

Grant, Audrey V. ;

Adimi, Parisa ;

Mansouri, Nahal ;

Okada, Satoshi ;

Bryant, Vanessa L. ;

Kong, Xiao-Fei ;

Kreins, Alexandra ;

Velez, Marcela Moncada ;

Boisson, Bertrand ;

Khalilzadeh, Soheila ;

Ozcelik, Ugur ;

Darazam, Ilad Alavi ;

Schoggins, John W. ;

Rice, Charles M. ;

Al-Muhsen, Saleh ;

Behr, Marcel ;

Vogt, Guillaume ;

Puel, Anne ;

Bustamante, Jacinta ;

Gros, Philippe ;

Huibregtse, Jon M. ;

Abel, Laurent ;

Boisson-Dupuis, Stephanie ;

Casanova, Jean-Laurent .

SCIENCE, 2012, 337 (6102) :1684-1688

[5] Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant [J].

Boisson-Dupuis, Stephanie ;

Ramirez-Alejo, Noe ;

Li, Zhi ;

Patin, Etienne ;

Rao, Geetha ;

Kerner, Gaspard ;

Lim, Che Kang ;

Krementsov, Dimitry N. ;

Hernandez, Nicholas ;

Ma, Cindy S. ;

Zhang, Qian ;

Markle, Janet ;

Martinez-Barricarte, Ruben ;

Payne, Kathryn ;

Fisch, Robert ;

Deswarte, Caroline ;

Halpern, Joshua ;

Bouaziz, Matthieu ;

Mulwa, Jeanette ;

Sivanesan, Durga ;

Lazarov, Tomi ;

Naves, Rodrigo ;

Garcia, Patricia ;

Itan, Yuval ;

Boisson, Bertrand ;

Checchi, Alix ;

Jabot-Hanin, Fabienne ;

Cobat, Aurelie ;

Guennoun, Andrea ;

Jackson, Carolyn C. ;

Pekcan, Sevgi ;

Caliskaner, Zafer ;

Inostroza, Jaime ;

Costa-Carvalho, Beatriz Tavares ;

Tavares de Albuquerque, Jose Antonio ;

Garcia-Ortiz, Humberto ;

Orozco, Lorena ;

Ozcelik, Tayfun ;

Abid, Ahmed ;

Rhorfi, Ismail Abderahmani ;

Souhi, Hicham ;

Amrani, Hicham Naji ;

Zegmout, Adil ;

Geissmann, Frederic ;

Michnick, Stephen W. ;

Muller-Fleckenstein, Ingrid ;

Fleckenstein, Bernhard ;

Puel, Anne ;

Ciancanelli, Michael J. ;

Marr, Nico .

SCIENCE IMMUNOLOGY, 2018, 3 (30)

[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] Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity [J].

Bustamante, Jacinta ;

Boisson-Dupuis, Stephanie ;

Abel, Laurent ;

Casanova, Jean-Laurent .

SEMINARS IN IMMUNOLOGY, 2014, 26 (06) :454-470

[8] Mendelian susceptibility to mycobacterial disease [J].

Cottle, L. E. .

CLINICAL GENETICS, 2011, 79 (01) :17-22

[9] Revisiting Human IL-12Rβ1 Deficiency A Survey of 141 Patients From 30 Countries [J].

de Beaucoudrey, Ludovic ;

Samarina, Arina ;

Bustamante, Jacinta ;

Cobat, Aurelie ;

Boisson-Dupuis, Stephanie ;

Feinberg, Jacqueline ;

Al-Muhsen, Saleh ;

Janniere, Lucile ;

Rose, Yoann ;

de Suremain, Maylis ;

Kong, Xiao-Fei ;

Filipe-Santos, Orchidee ;

Chapgier, Ariane ;

Picard, Capucine ;

Fischer, Alain ;

Dogu, Figen ;

Ikinciogullari, Aydan ;

Tanir, Gonul ;

Al-Hajjar, Sami ;

Al-Jumaah, Suliman ;

Frayha, Husn H. ;

Alsum, Zobaida ;

Al-Ajaji, Sulaiman ;

Alangari, Abdullah ;

Al-Ghonaium, Abdulaziz ;

Adimi, Parisa ;

Mansouri, Davood ;

Ben-Mustapha, Imen ;

Yancoski, Judith ;

Garty, Ben-Zion ;

Rodriguez-Gallego, Carlos ;

Caragol, Isabel ;

Kutukculer, Necil ;

Kumararatne, Dinakantha S. ;

Patel, Smita ;

Doffinger, Rainer ;

Exley, Andrew ;

Jeppsson, Olle ;

Reichenbach, Janine ;

Nadal, David ;

Boyko, Yaryna ;

Pietrucha, Barbara ;

Anderson, Suzanne ;

Levin, Michael ;

Schandene, Liliane ;

Schepers, Kinda ;

Efira, Andre ;

Mascart, Francoise ;

Matsuoka, Masao ;

Sakai, Tatsunori .

MEDICINE, 2010, 89 (06) :381-402

[10] Human Splicing Finder: an online bioinformatics tool to predict splicing signals [J].

Desmet, Francois-Olivier ;

Hamroun, Dalil ;

Lalande, Marine ;

Collod-Beroud, Gwenaelle ;

Claustres, Mireille ;

Beroud, Christophe .

NUCLEIC ACIDS RESEARCH, 2009, 37 (09)

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