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Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries  期刊论文  

  • 编号：
    db2f439a-3a78-4607-bc4f-e208f5be8611
  • 作者：
    de Beaucoudrey, Ludovic[1,3] Samarina, Arina[1,3,4] Bustamante, Jacinta[1,3] Cobat, Aurelie[1,3] BoissonDupuis, Stephanie[1,3,4] Feinberg, Jacqueline[1,3] AlMuhsen, Saleh[5,6,7] Janniere, Lucile[1,3] Rose, Yoann[1,3] de Suremain, Maylis[1,3] Kong, XiaoFei[1,3,4] FilipeSantos, Orchidee[1,3] Chapgier, Ariane[1,3] Picard, Capucine[1,3,8] Fischer, Alain[2,3,9] Dogu, Figen[10] Ikinciogullari, Aydan[10] Tanir, Gonul[11] AlHajjar, Sami[5,7] AlJumaah, Suliman[7] Frayha, Husn H.[7] Alsum, Zobaida AlAjaji, Sulaiman[12] Alangari, Abdullah[5,6] AlGhonaium, Abdulaziz[7] Adimi, Parisa[13] Mansouri, Davood[13] BenMustapha, Imen[14] Yancoski, Judith[15] Garty, BenZion[16] RodriguezGallego, Carlos[17] Caragol, Isabel[18] Kutukculer, Necil[19] Kumararatne, Dinakantha S.[20] Patel, Smita[20] Doffinger, Rainer[20] Exley, Andrew[21,22] Jeppsson, Olle[23] Reichenbach, Janine[24] Nadal, David[25] Boyko, Yaryna[26] Pietrucha, Barbara[27] Anderson, Suzanne[28] Levin, Michael[28] Schandene, Liliane[29] Schepers, Kinda[30] Efira, Andre[29] Mascart, Francoise[29,31] Matsuoka, Masao[32] Sakai, Tatsunori[33] Siegrist, ClaireAnne[34] Frecerova, Klara[35] BlueettersSawatzki, Renate[36] Bernhoeft, Jutta[37] Freihorst, Joachim[38] Baumann, Ulrich[38] Richter, Darko Haerynck, Filomeen[39] De Baets, Frans[39] Novelli, Vas[40] Lammas, David[41] Vermylen, Christiane[42] Tuerlinckx, David[43] Nieuwhof, Chris[44] Pac, Malgorzata[27] Haas, Walther H.[45] MuellerFleckenstein, Ingrid[46] Fleckenstein, Bernhard[46] Levy, Jacob[47] Raj, Revathi[48] Cohen, Aileen Cleary[49] Lewis, David B.[49] Holland, Steven M.[50] Yang, Kuender D.[52] Wang, Xiaochuan[53] Wang, Xiaohong Jiang, Liping Yang, Xiqiang[54] Zhu, Chaomin Xie, Yuanyuan Lee, Pamela Pui Wah[55] Chan, Koon Wing[55] Chen, TongXin[56] Castro, Gabriela[57] Natera, Ivelisse[58] Codoceo, Ana[59] King, Alejandra[59] Bezrodnik, Liliana[60] Di Giovani, Daniela[60] Isabel Gaillard, Maria[60] de MoraesVasconcelos, Dewton[61] Grumach, Anete Sevciovic[61] da Silva Duarte, Alberto Jose[61] Aldana, Ruth[62] Javier EspinosaRosales, Francisco[63] Bejaoui, Mohammed[64] Bousfiha, Ahmed Aziz[65] El Baghdadi, Jamila[66] Ozbek, Namik[67] Aksu, Guzide[19] Keser, Melike[68] Somer, Ayper[68] Hatipoglu, Nevin[69] Aydogmus, Cigdem[69] Asilsoy, Suna[70] Camcioglu, Yildiz[71] Gulle, Saniye[70] Ozgur, Tuba T.[72] Ozen, Meteran[73] Oleastro, Matias[15] Bernasconi, Andrea[15] Mamishi, Setareh[74] Parvaneh, Nima[74] Rosenzweig, Sergio[51] Barbouche, Ridha[14] Pedraza, Sigifredo[75] Lau, Yu Lung[55] Ehlayel, Mohammad S.[76] Fieschi, Claire[77] Abel, Laurent[1,3,4] Sanal, Ozden[72] Casanova, JeanLaurent[1,3,4,5,9]
  • 语种：
    English
  • 期刊：
    MEDICINE ISSN：0025-7974 2010 年 89 卷 6 期 (381 - 402) ; NOV
  • 收录：
     
  • 摘要：

    Interleukin-12 receptor beta 1 (IL-12R beta 1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.4 years. In 78 patients, this infection was caused by Bacille Calmette-Guerin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n = 9) or Mycobacterium tuberculosis (n = 4). Twenty-two of the remaining 24 probands initially presented with nontyphoidal, extraintestinal salmonellosis. Twenty of the 29 genetically affected sibs displayed clinical signs (69%); however 8 remained asymptomatic (27%). Nine nongenotyped sibs with symptoms died. Recurrent BCG infection was diagnosed in 15 cases, recurrent EM in 3 cases, recurrent salmonellosis in 22 patients. Ninety of the 132 symptomatic patients had infections with a single microorganism. Multiple infections were diagnosed in 40 cases, with combined mycobacteriosis and salmonellosis in 36 individuals. BCG disease strongly protected against subsequent EM disease (p = 0.00008). Various other infectious diseases occurred, albeit each rarely, yet candidiasis was reported in 33 of the patients (23%). Ninety-nine patients (70%) survived, with a mean age at last follow-up visit of 12.7 years +/- 9.8 years (range, 0.5-46.4 yr). IL-12R beta 1 deficiency is characterized by childhood-onset mycobacteriosis and salmonellosis, rare recurrences of mycobacterial disease, and more frequent recurrence of salmonellosis. The condition has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought.

  • 推荐引用方式
    GB/T 7714：
    de Beaucoudrey Ludovic,Samarina Arina,Bustamante Jacinta, et al. Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries [J].MEDICINE,2010,89(6):381-402.
  • APA：
    de Beaucoudrey Ludovic,Samarina Arina,Bustamante Jacinta,Cobat Aurelie,&Casanova Jean-Laurent.(2010).Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries .MEDICINE,89(6):381-402.
  • MLA：
    de Beaucoudrey Ludovic, et al. "Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries" .MEDICINE 89,6(2010):381-402.
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