8 results on '"Boutros J"'
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2. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
- Author
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Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Lagos Gomez, M., Aldave Becerra, J. C., Ouachee-Chardin, M., Fouyssac, F., Girisha, K. M., Etzioni, A., Van Montfrans, J., Camcioglu, Y., Kerns, L. A., Belohradsky, B., Blanche, S., Bousfiha, A., Rodriguez-Gallego, C., Meyts, I., Kisand, K., Reichenbach, J., Renner, E. D., Rosenzweig, S., Grimbacher, B., van de Veerdonk, F. L., Traidl-Hoffmann, C., Picard, C., Marodi, L., Morio, T., Kobayashi, M., Lilic, D., Milner, J. D., Holland, S., Casanova, J. -L., Puel A, Cypowyj S, Thumerelle C, Toulon A, Bustamante J, Tahuil N, SALHI, DALILA, Boiu S, Chopra C, Di Giovanni D, Bezrodnik L, Boutros J, Thomas C, Lacuesta G, Jannier S, Korganow AS, Paillard C, Boutboul, Bué M, Marie-Cardine A, Bayart S, Migaud M, Weiss, Karmochkine M, Garcia-Martinez JM, Stephan JL, Bensaid P, Jeannoel GP, Witte T, Baumann U, Harrer T, Navarrete C, ACOSTA HUGHES, BENJAMIN, Firinu, Pignata C, Picco P, Mendoza D, Lugo Reyes SO, Torres Lozano C, Ortega-Cisneros M, Cortina M, Mesdaghi M, Nabavi M, Español T, Martínez-Saavedra MT, Rezaei N, Zoghi S, Pac M, Barlogis V, Revon-Rivière G, Haimi-Cohen Y, Spiegel R, Miron D, Bouchaib J, Blancas-Galicia L, Toth B, Drexel B, Rohrlich PS, Lesens O, Hoernes M, Drewe E, Abinum M, Sawalle-Belohradsky J, Kindle G, Depner M, Milani L, Nikopensius T, Remm M, Talas UG, Tucker M, Willis M, Leonard S, Meuwissen H, Ferdman RM, CORBO UGULINO, WALLACE, Desai MM, Taur P, Badolato R, Soltesz B, Schnopp C, Jansson AF, Ayvaz D, Shabashova N, Chernyshova L, Bondarenko A, Moshous D, Neven B, Boubidi C, Ailal F, Giardino G, Del Giacco S, Bougnoux ME, Imai K, Okawa T, Mizoguchi Y, Ozaki Y, Takeuchi M, Hayakawa A, Lögering B, Reich K, Buhl T, Eyerich K, Schaller M, Arkwright PD, Gennery AR, Cant AJ, Warris A, Henriet S, Mekki N, Barbouche R, Ben Mustapha I, Bodemer, Polak M, Grimprel E, Burgel PR, Fischer A, Hermine O, Debré M, Kocacyk D, Dhalla F, Patel SY, Moens L, Haerynck F, Dullaers, Hoste L, Sanal O, Kilic SS, Roesler J, Lanternier F, Lortholary O, Fieschi C, Church JA, Roifman C, Yuenyongviwat A, Peterson P, Boisson-Dupuis S, Abel L, Marciano BE, Netea MG., Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Lagos Gomez, M., Aldave Becerra, J. C., Ouachee-Chardin, M., Fouyssac, F., Girisha, K. M., Etzioni, A., Van Montfrans, J., Camcioglu, Y., Kerns, L. A., Belohradsky, B., Blanche, S., Bousfiha, A., Rodriguez-Gallego, C., Meyts, I., Kisand, K., Reichenbach, J., Renner, E. D., Rosenzweig, S., Grimbacher, B., van de Veerdonk, F. L., Traidl-Hoffmann, C., Picard, C., Marodi, L., Morio, T., Kobayashi, M., Lilic, D., Milner, J. D., Holland, S., Casanova, J. -L., Puel, A, Cypowyj, S, Thumerelle, C, Toulon, A, Bustamante, J, Tahuil, N, Salhi, Dalila, Boiu, S, Chopra, C, Di Giovanni, D, Bezrodnik, L, Boutros, J, Thomas, C, Lacuesta, G, Jannier, S, Korganow, A, Paillard, C, Boutboul, Bué, M, Marie-Cardine, A, Bayart, S, Migaud, M, Weiss, Karmochkine, M, Garcia-Martinez, Jm, Stephan, Jl, Bensaid, P, Jeannoel, Gp, Witte, T, Baumann, U, Harrer, T, Navarrete, C, ACOSTA HUGHES, Benjamin, Firinu, Pignata, C, Picco, P, Mendoza, D, Lugo Reyes, So, Torres Lozano, C, Ortega-Cisneros, M, Cortina, M, Mesdaghi, M, Nabavi, M, Español, T, Martínez-Saavedra, Mt, Rezaei, N, Zoghi, S, Pac, M, Barlogis, V, Revon-Rivière, G, Haimi-Cohen, Y, Spiegel, R, Miron, D, Bouchaib, J, Blancas-Galicia, L, Toth, B, Drexel, B, Rohrlich, P, Lesens, O, Hoernes, M, Drewe, E, Abinum, M, Sawalle-Belohradsky, J, Kindle, G, Depner, M, Milani, L, Nikopensius, T, Remm, M, Talas, Ug, Tucker, M, Willis, M, Leonard, S, Meuwissen, H, Ferdman, Rm, CORBO UGULINO, Wallace, Desai, Mm, Taur, P, Badolato, R, Soltesz, B, Schnopp, C, Jansson, Af, Ayvaz, D, Shabashova, N, Chernyshova, L, Bondarenko, A, Moshous, D, Neven, B, Boubidi, C, Ailal, F, Giardino, G, Del Giacco, S, Bougnoux, Me, Imai, K, Okawa, T, Mizoguchi, Y, Ozaki, Y, Takeuchi, M, Hayakawa, A, Lögering, B, Reich, K, Buhl, T, Eyerich, K, Schaller, M, Arkwright, Pd, Gennery, Ar, Cant, Aj, Warris, A, Henriet, S, Mekki, N, Barbouche, R, Ben Mustapha, I, Bodemer, Polak, M, Grimprel, E, Burgel, Pr, Fischer, A, Hermine, O, Debré, M, Kocacyk, D, Dhalla, F, Patel, Sy, Moens, L, Haerynck, F, Dullaers, Hoste, L, Sanal, O, Kilic, S, Roesler, J, Lanternier, F, Lortholary, O, Fieschi, C, Church, Ja, Roifman, C, Yuenyongviwat, A, Peterson, P, Boisson-Dupuis, S, Abel, L, Marciano, Be, and Netea, Mg.
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Male ,0301 basic medicine ,Pediatrics ,Clinical Trials and Observations ,lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4] ,medicine.disease_cause ,Biochemistry ,Gastroenterology ,Cohort Studies ,STAT5 Transcription Factor ,Medicine ,Chronic mucocutaneous candidiasis ,Child ,Hematology ,biology ,Progressive multifocal leukoencephalopathy ,Candidiasis, Chronic Mucocutaneous ,Candidiasis ,Orvostudományok ,Middle Aged ,Phenotype ,STAT1 Transcription Factor ,Staphylococcus aureus ,Child, Preschool ,Female ,STAT3 Transcription Factor ,Adult ,Heterozygote ,medicine.medical_specialty ,Adolescent ,Aged ,Genetic Predisposition to Disease ,Humans ,Infant ,Young Adult ,Genetic Association Studies ,Mutation ,Immunology ,Cell Biology ,Chronic Mucocutaneous ,Klinikai orvostudományok ,Herpesviridae ,Mycobacterium tuberculosis ,03 medical and health sciences ,Internal medicine ,Journal Article ,ddc:610 ,Preschool ,Key Points AD STAT1 GOF is the most common genetic cause of inherited CMC and is not restricted to a specific age or ethnic group. STAT1 GOF underlies a variety of infectious and autoimmune features, as well as carcinomas and aneurysms associated with a poor outcome ,Type 1 diabetes ,Cytopenia ,business.industry ,medicine.disease ,biology.organism_classification ,030104 developmental biology ,business - Abstract
Contains fulltext : 172671.pdf (Publisher’s version ) (Closed access) Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with them needed to be delineated. We enrolled 274 patients from 167 kindreds originating from 40 countries from 5 continents. Demographic data, clinical features, immunological parameters, treatment, and outcome were recorded. The median age of the 274 patients was 22 years (range, 1-71 years); 98% of them had CMC, with a median age at onset of 1 year (range, 0-24 years). Patients often displayed bacterial (74%) infections, mostly because of Staphylococcus aureus (36%), including the respiratory tract and the skin in 47% and 28% of patients, respectively, and viral (38%) infections, mostly because of Herpesviridae (83%) and affecting the skin in 32% of patients. Invasive fungal infections (10%), mostly caused by Candida spp. (29%), and mycobacterial disease (6%) caused by Mycobacterium tuberculosis, environmental mycobacteria, or Bacille Calmette-Guerin vaccines were less common. Many patients had autoimmune manifestations (37%), including hypothyroidism (22%), type 1 diabetes (4%), blood cytopenia (4%), and systemic lupus erythematosus (2%). Invasive infections (25%), cerebral aneurysms (6%), and cancers (6%) were the strongest predictors of poor outcome. CMC persisted in 39% of the 202 patients receiving prolonged antifungal treatment. Circulating interleukin-17A-producing T-cell count was low for most (82%) but not all of the patients tested. STAT1 GOF mutations underlie AD CMC, as well as an unexpectedly wide range of other clinical features, including not only a variety of infectious and autoimmune diseases, but also cerebral aneurysms and carcinomas that confer a poor prognosis.
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- 2016
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3. Diversity of Low-Density Lattices
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Punekar, M. and Boutros, J. J.
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FOS: Computer and information sciences ,Computer Science - Information Theory ,Information Theory (cs.IT) ,Data_CODINGANDINFORMATIONTHEORY ,Computer Science::Information Theory - Abstract
The non-ergodic fading channel is a useful model for various wireless communication channels in both indoor and outdoor environments. Building on Poltyrev's work on infinite lattice constellations for the Gaussian channel, we derive a Poltyrev outage limit (POL) for lattices in presence of block fading. We prove that the diversity order of this POL is equal to the number of degrees of freedom in the channel. Further, we describe full-diversity constructions of real lattices defined by their integer-check matrix, i.e., the inverse of their generator matrix. In the first construction suited to maximum-likelihood decoding, these lattices are defined by sparse (low-density) or non-sparse integer-check matrices. Based on a special structure of the lattice binary image, a second full-diversity lattice construction is described for sparse integer-check matrices in the context of iterative probabilistic decoding. Full diversity is theoretically proved in both cases. We also propose a method to construct lattices for diversity order 4 suitable for iterative probabilistic decoding. Computer simulation results for diversity order L = 2 and L = 4 confirm that the proposed low-density lattices attain the maximal diversity order. The newly defined POL is used during this simulation to declare an outage error without decoding, which drastically improves the decoding runtime., Comment: To be submitted to IEEE Transactions on Communications
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- 2016
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4. Nonanticipative transmission for sources and channels with memory
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Kourtellaris, C. K., Charalambous, Charalambos D., Boutros, J. J., and Charalambous, Charalambos D. [0000-0002-2168-0231]
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Binary markov sources ,Theoretical computer science ,Information theory ,Encoding and decoding ,Transmission costs ,Bins ,Memory channels ,Distortion functions ,Markov process ,Data_CODINGANDINFORMATIONTHEORY ,Topology ,Channel capacity ,symbols.namesake ,Encoding (memory) ,Distortion ,Mathematics ,Computer Science::Information Theory ,Distortion function ,Joint designs ,Transmission (telecommunications) ,Light transmission ,symbols ,Achievability ,Channels with memory ,Hamming code ,Decoding methods - Abstract
In this paper we analyze nonanticipative (delayless) transmission of source symbols with memory over channels with memory (with and without feedback). We employ duality of source, channel pairs with respect to distortion function, transmission cost pairs to show achievability of nonanticipative transmission in terms of excess distortion probability. We apply the method to the Binary Markov source with Hamming distortion function and the Binary Unit Memory channel with transmission cost, with the joint-design operating optimally and in real-time, with and without feedback encoding and decoding. © 2015 IEEE. 2015-June 521 525
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- 2015
5. Dock8 deficiency and a diagnostic score to differentiate it from other Hyper-IGE syndromes
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Engelhardt, K. R., Gertz, E. M., Keleş, S., Schaeffer, Alejandro A., Ceja, R., Sassi, A., Massaad, M. J., Mellouli, F., Benmustapha, I., Khemiri, M., Etzioni, A., Freeman, A. F., Thiel, J., Schulze, I., Al-Herz, W., Metin, A., Sanal, O., Yeganeh, M., Niehues, T., Siepermann, K., Ünal, E., Patıroğlu, T., Dasouki, M., Yılmaz, Mustafa, Genel, F., Aytekin, C., Kütükçüler, N., Somer, Ayper, Kılıç, M., Reisli, I., Camcıoğlu, Y., Gennery, A. R., Cant, A. J., Jones, A., Gaspar, H. B., Arkwright, P. D., Pietrogrande, M. C., Baz, Z., Al-Tamemi, Salem, Lougaris, V., Lefranc, G., Megarbane, Andre, Boutros, J., Galal, N., Bejaoui, Mohamed, Barbouche, R., Geha, R. S., Chatila, T. A., Grimbacher, B., Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk İmmünolojisi Bölümü., Kılıç, Sara Şebnem, and AAH-1658-2021
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Immunology - Abstract
Bu çalışma, 3-6 Ekim 2012'de Floransa[İtalya]'da düzenlenen 15. Biennial Meeting European-Society-for-Immunodeficiency (ESID)'de bildiri olarak sunulmuştur. European Soc Immunodeficiency (ESID) Int Nursing Grp Immunodeficiencies (INGID) Int Patient Org Primary Immunodeficiencies (IPOPI)
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- 2012
6. Semi-blind channel estimation using EM algorithm in iterative MIMO APP detectors
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Khalighi, Mohammad-Ali, Boutros, J., Institut FRESNEL (FRESNEL), Centre National de la Recherche Scientifique (CNRS)-École Centrale de Marseille (ECM)-Aix Marseille Université (AMU), Bourennane, Salah, and Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)
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[INFO.INFO-IR]Computer Science [cs]/Information Retrieval [cs.IR] ,[INFO.INFO-IR] Computer Science [cs]/Information Retrieval [cs.IR] ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
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- 2006
7. Good Lattice Constellations for both Rayleigh Fading andGaussian Channels
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Boutros, J., Viterbo, Emanuele, Rastello, C., and Belfiore, J. C.
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- 1996
8. Cryptanalysis of nonlinear filter generators with {0, 1}-metric viterbi decoding
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Leveiller, S., Boutros, J., Guillot, P., and Gilles Zémor
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