Yazar "Samarina A." seçeneğine göre listele

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    Il-12rß1 deficiency in two of fifty children with severe tuberculosis from IRN, MAR, and TUR
    (2011) Boisson-Dupuis S.; Baghdadi J.E; Parvaneh N.; Bousfiha A.; Bustamante J.; Feinberg J.; Samarina A.; Grant A.V.; Janniere L.; Hafidi N.; Hassani A.; Nolan D.; Najib J.; Camcioglu Y.; Hatipoglu N.; Aydogmus C.; Tanir G.; Aytekin C.; Keser M.; Somer A.; Aksu G.; Kutukculer N.; Mansouri D.; Mahdaviani A.; Mamishi S.; Alcais A.; Abel L.; Casanova J.-L.
    Background and Objectives: In the last decade, autosomal recessive IL-12Rß1 deficiency has been diagnosed in four children with severe tuberculosis from three unrelated families from MAR, Spain, and TUR, 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-12Rß1 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 IRN, MAR, and TUR. 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 IRN and another from MAR, homozygosity for loss-of-function IL12RB1 alleles was documented, resulting in complete IL-12Rß1 deficiency. Despite the small sample studied, our findings suggest that IL-12Rß1 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-? is an effective treatment for mycobacterial infections in IL-12Rß1-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. © 2011 Boisson-Dupuis et al.
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    Revisiting human IL-12Rß1 deficiency: A survey of 141 patients from 30 countries
    (2010) De Beaucoudrey L.; Samarina A.; Bustamante J.; Cobat A.; Boisson-Dupuis S.; Feinberg J.; Al-Muhsen S.; Jannière L.; Rose Y.; De Suremain M.; Kong X.-F.; Filipe-Santos O.; Chapgier A.; Picard C.; Fischer A.; Dogu F.; Ikinciogullari A.; Tanir G.; Al-Hajjar S.; Al-Jumaah S.; Frayha H.H.; Alsum Z.; Al-Ajaji S.; Alangari A.; Al-Ghonaium A.; Adimi P.; Mansouri D.; Ben-Mustapha I.; Yancoski J.; Garty B.-Z.; Rodriguez-Gallego C.; Caragol I.; Kutukculer N.; Kumararatne D.S.; Patel S.; Doffinger R.; Exley A.; Jeppsson O.; Reichenbach J.; Nadal D.; Boyko Y.; Pietrucha B.; Anderson S.; Levin M.; Schandené L.; Schepers K.; Efira A.; Mascart F.; Matsuoka M.; Sakai T.; Siegrist C.-A.; Frecerova K.; Blüetters-Sawatzki R.; Bernhöft J.; Freihorst J.; Baumann U.; Richter D.; Haerynck F.; De Baets F.; Novelli V.; Lammas D.; Vermylen C.; Tuerlinckx D.; Nieuwhof C.; Pac M.; Haas W.H.; Müller-Fleckenstein I.; Fleckenstein B.; Levy J.; Raj R.; Cohen A.C.; Lewis D.B.; Holland S.M.; Yang K.D.; Wang X.; Wang X.; Jiang L.; Yang X.; Zhu C.; Xie Y.; Lee P.P.W.; Chan K.W.; Chen T.-X.; Castro G.; Natera I.; Codoceo A.; King A.; Bezrodnik L.; Di Giovani D.; Gaillard M.I.; De Moraes-Vasconcelos D.; Grumach A.S.; Da Silva Duarte A.J.; Aldana R.; Espinosa-Rosales F.J.; Bejaoui M.; Bousfiha A.A.; Baghdadi J.E.; Özbek N.; Aksu G.; Keser M.; Somer A.; Hatipoglu N.; Aydogmus C.; Asilsoy S.; Camcioglu Y.; Gülle S.; Ozgur T.T.; Ozen M.; Oleastro M.; Bernasconi A.; Mamishi S.; Parvaneh N.; Rosenzweig S.; Barbouche R.; Pedraza S.; Lau Y.L.; Ehlayel M.S.; Fieschi C.; Abel L.; Sanal O.; Casanova J.-L.
    Interleukin-12 receptor ß1 (IL-12Rß1) 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-Guérin (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-12Rß1 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. © 2010 Lippincott Williams & Wilkins.