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    BCG-osis and tuberculosis in a child with chronic granulomatous disease
    (Mosby-Elsevier, 2007) 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
    A few known primary immunodeficiencies confer predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG vaccines (regional disease, known as BCG-itis, or disseminated disease, known as BCG-osis), or more virulent mycobacteria, such as Mycobacterium tuberculosis (pulmonary and disseminated tuberculosis). We investigated the clinical and genetic features of a 12-year-old boy with both recurrent BCG-osis and disseminated tuberculosis. The patient's phagocytic cells produced no 0(2)(-). A hemizygous splice mutation was found in intron 5 of CYBB, leading to a diagnosis of X-linked chronic granulomatous disease. Chronic granulomatous disease should be suspected in all children with BCG-osis, even in the absence of nonmycobacterial infectious diseases, and in selected children with recurrent BCG-itis or severe tuberculosis.
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    IL-12R beta 1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey
    (Public Library Science, 2011) 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
    Background and Objectives: In the last decade, autosomal recessive IL-12R beta 11 deficiency has been diagnosed in four children with severe tuberculosis from three unrelated families from Morocco, Spain, and Turkey, providing proof-of-principle that tuberculosis in otherwise healthy children may result from single-gene inborn errors of immunity. We aimed to estimate the fraction of children developing severe tuberculosis due to IL-12R beta 1 deficiency in areas endemic for tuberculosis and where parental consanguinity is common. Methods and Principal Findings: We searched for IL12RB1 mutations in a series of 50 children from Iran, Morocco, and Turkey. All children had established severe pulmonary and/or disseminated tuberculosis requiring hospitalization and were otherwise normally resistant to weakly virulent BCG vaccines and environmental mycobacteria. In one child from Iran and another from Morocco, homozygosity for loss-of-function IL12RB1 alleles was documented, resulting in complete IL-12R beta 1 deficiency. Despite the small sample studied, our findings suggest that IL-12R beta 1 deficiency is not a very rare cause of pediatric tuberculosis in these countries, where it should be considered in selected children with severe disease. Significance: This finding may have important medical implications, as recombinant IFN-gamma is an effective treatment for mycobacterial infections in IL-12R beta 1-deficient patients. It also provides additional support for the view that severe tuberculosis in childhood may result from a collection of single-gene inborn errors of immunity.
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    Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries
    (Lippincott Williams & Wilkins, 2010) 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; Siegrist, Claire-Anne; Frecerova, Klara; Blueetters-Sawatzki, Renate; Bernhoeft, Jutta; Freihorst, Joachim; Baumann, Ulrich; Richter, Darko; Haerynck, Filomeen; De Baets, Frans; Novelli, Vas; Lammas, David; Vermylen, Christiane; Tuerlinckx, David; Nieuwhof, Chris; Pac, Malgorzata; Haas, Walther H.; Mueller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Levy, Jacob; Raj, Revathi; Cohen, Aileen Cleary; Lewis, David B.; Holland, Steven M.; Yang, Kuender D.; Wang, Xiaochuan; Wang, Xiaohong; Jiang, Liping; Yang, Xiqiang; Zhu, Chaomin; Xie, Yuanyuan; Lee, Pamela Pui Wah; Chan, Koon Wing; Chen, Tong-Xin; Castro, Gabriela; Natera, Ivelisse; Codoceo, Ana; King, Alejandra; Bezrodnik, Liliana; Di Giovani, Daniela; Isabel Gaillard, Maria; de Moraes-Vasconcelos, Dewton; Grumach, Anete Sevciovic; da Silva Duarte, Alberto Jose; Aldana, Ruth; Javier Espinosa-Rosales, Francisco; Bejaoui, Mohammed; Bousfiha, Ahmed Aziz; El Baghdadi, Jamila; Ozbek, Namik; Aksu, Guzide; Keser, Melike; Somer, Ayper; Hatipoglu, Nevin; Aydogmus, Cigdem; Asilsoy, Suna; Camcioglu, Yildiz; Gulle, Saniye; Ozgur, Tuba T.; Ozen, Meteran; Oleastro, Matias; Bernasconi, Andrea; Mamishi, Setareh; Parvaneh, Nima; Rosenzweig, Sergio; Barbouche, Ridha; Pedraza, Sigifredo; Lau, Yu Lung; Ehlayel, Mohammad S.; Fieschi, Claire; Abel, Laurent; Sanal, Ozden; Casanova, Jean-Laurent
    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.
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    X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production
    (Rockefeller Univ Press, 2006) Filipe-Santos, Orchidee; Bustamante, Jacinta; Haverkamp, Margje H.; Vinolo, Emilie; Ku, Cheng-Lung; Puel, Anne; Frucht, David M.; Christel, Karin; von Bernuth, Horst; Jouanguy, Emmanuelle; Feinberg, Jacqueline; Durandy, Anne; Senechal, Brigitte; Chapgier, Ariane; Vogt, Guillaume; de Beaucoudrey, Ludovic; Fieschi, Claire; Picard, Capucine; Garfa, Meriem; Chemli, Jalel; Bejaoui, Mohamed; Tsolia, Maria N.; Kutukculer, Necil; Plebani, Alessandro; Notarangelo, Luigi; Bodemer, Christine; Geissmann, Frederic; Israel, Alain; Veron, Michel; Knackstedt, Maike; Barbouche, Ridha; Abel, Laurent; Magdorf, Klaus; Gendrel, Dominique; Agou, Fabrice; Holland, Steven M.; Casanova, Jean-Laurent
    Germline mutations in five autosomal genes involved in interleukin (IL)-12-dependent, interferon (IFN)-gamma-mediated immunity cause Mendelian susceptibility to mycobacterial diseases (MSMD). The molecular basis of X-linked recessive (XR)-MSMD remains unknown. We report here mutations in the leucine zipper (LZ) domain of the NF-kappa B essential modulator (NEMO) gene in three unrelated kindreds with XR-MSMD. The mutant proteins were produced in normal amounts in blood and fibroblastic cells. However, the patients' monocytes presented an intrinsic defect in T cell-dependent IL-12 production, resulting in defective IFN-gamma secretion by T cells. IL-12 production was also impaired as the result of a specific defect in NEMO- and NF-kappa B/c-Rel-mediated CD40 signaling after the stimulation of monocytes and dendritic cells by CD40L-expressing T cells and fibroblasts, respectively. However, the CD40-dependent up-regulation of costimulatory molecules of dendritic cells and the proliferation and immunoglobulin class switch of B cells were normal. Moreover, the patients' blood and fibroblastic cells responded to other NF-kappa B activators, such as tumor necrosis factor-alpha, IL-beta, and lipopolysaccharide. These two mutations in the NEMO LZ domain provide the first genetic etiology of XR-MSMD. They also demonstrate the importance of the T cell- and CD40L-triggered, CD40-, and NEMO/NF-kappa B/c-Rel-mediated induction of IL-12 by monocyte-derived cells for protective immunity to mycobacteria in humans.