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Your search keyword '"Barbouche, Mohamed-Ridha"' showing total 12 results
Start Over Author "Barbouche, Mohamed-Ridha" Journal frontiers in immunology
12 results on '"Barbouche, Mohamed-Ridha"'

1. Diagnostic challenge in a series of eleven patients with hyper IgE syndromes

Author

Yaakoubi, Roukaya, primary, Mekki, Najla, additional, Ben-Mustapha, Imen, additional, Ben-Khemis, Leila, additional, Bouaziz, Asma, additional, Ben Fraj, Ilhem, additional, Ammar, Jamel, additional, Hamzaoui, Agnès, additional, Turki, Hamida, additional, Boussofara, Lobna, additional, Denguezli, Mohamed, additional, Haddad, Samir, additional, Ouederni, Monia, additional, Bejaoui, Mohamed, additional, Chan, Koon Wing, additional, Lau, Yu Lung, additional, Mellouli, Fethi, additional, Barbouche, Mohamed-Ridha, additional, and Ben-Ali, Meriem, additional

Published
2023
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2. Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity

Author

Chan, Koon-Wing, primary, Wong, Chung-Yin, additional, Leung, Daniel, additional, Yang, Xingtian, additional, Fok, Susanna F. S., additional, Mak, Priscilla H. S., additional, Yao, Lei, additional, Ma, Wen, additional, Mao, Huawei, additional, Zhao, Xiaodong, additional, Liang, Weiling, additional, Singh, Surjit, additional, Barbouche, Mohamed-Ridha, additional, He, Jian-Xin, additional, Jiang, Li-Ping, additional, Liew, Woei-Kang, additional, Le, Minh Huong Thi, additional, Muktiarti, Dina, additional, Santos-Ocampo, Fatima Johanna, additional, Djidjik, Reda, additional, Belaid, Brahim, additional, Ismail, Intan Hakimah, additional, Abdul Latiff, Amir Hamzah, additional, Lee, Way Seah, additional, Chen, Tong-Xin, additional, Liu, Jinrong, additional, Jin, Runming, additional, Wang, Xiaochuan, additional, Chien, Yin Hsiu, additional, Yu, Hsin-Hui, additional, Raj, Dinesh, additional, Raj, Revathi, additional, Vaughan, Jenifer, additional, Urban, Michael, additional, Berg, Sylvia van den, additional, Eley, Brian, additional, Lee, Anselm Chi-Wai, additional, Isa, Mas Suhaila, additional, Ang, Elizabeth Y., additional, Lee, Bee Wah, additional, Yeoh, Allen Eng Juh, additional, Shek, Lynette P., additional, Quynh Le, Nguyen Ngoc, additional, Nguyen, Van Anh Thi, additional, Phan Nguyen Lien, Anh, additional, Capulong, Regina D., additional, Mallillin, Joanne Michelle, additional, Villanueva, Jose Carlo Miguel M., additional, Camonayan, Karol Anne B., additional, Vera, Michelle De, additional, Casis-Hao, Roxanne J., additional, Lobo, Rommel Crisenio M., additional, Foronda, Ruby, additional, Binas, Vicky Wee Eng, additional, Boushaki, Soraya, additional, Kechout, Nadia, additional, Phongsamart, Gun, additional, Wongwaree, Siriporn, additional, Jiratchaya, Chamnanrua, additional, Lao-Araya, Mongkol, additional, Trakultivakorn, Muthita, additional, Suratannon, Narissara, additional, Jirapongsananuruk, Orathai, additional, Chantveerawong, Teerapol, additional, Kamchaisatian, Wasu, additional, Chan, Lee Lee, additional, Koh, Mia Tuang, additional, Wong, Ke Juin, additional, Fong, Siew Moy, additional, Thong, Meow-Keong, additional, Latiff, Zarina Abdul, additional, Noh, Lokman Mohd, additional, Silva, Rajiva de, additional, Jouhadi, Zineb, additional, Al-Saad, Khulood, additional, Vignesh, Pandiarajan, additional, Jindal, Ankur Kumar, additional, Rawat, Amit, additional, Gupta, Anju, additional, Suri, Deepti, additional, Yang, Jing, additional, Au, Elaine Yuen-Ling, additional, Kwok, Janette Siu-Yin, additional, Chan, Siu-Yuen, additional, Hui, Wayland Yuk-Fun, additional, Chua, Gilbert T., additional, Duque, Jaime Rosa, additional, Cheong, Kai-Ning, additional, Chong, Patrick Chun Yin, additional, Ho, Marco Hok Kung, additional, Lee, Tsz-Leung, additional, Wong, Wilfred Hing-Sang, additional, Yang, Wanling, additional, Lee, Pamela P., additional, Tu, Wenwei, additional, Yang, Xi-Qiang, additional, and Lau, Yu Lung, additional

Published
2022
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4. Diagnostic challenge in a series of eleven patients with hyper IgE syndromes.

Author

Roukaya Yaakoubi, Mekki, Najla, Ben-Mustapha, Imen, Ben-Khemis, Leila, Bouaziz, Asma, Fraj, Ilhem Ben, Ammar, Jamel, Hamzaoui, Agnès, Turki, Hamida, Boussofara, Lobna, Denguezli, Mohamed, Haddad, Samir, Ouederni, Monia, Bejaoui, Mohamed, Koon Wing Chan, Yu Lung Lau, Mellouli, Fethi, Barbouche, Mohamed-Ridha, and Ben-Ali, Meriem

Subjects
GUANINE nucleotide exchange factors, JOB'S syndrome, IMMUNOGLOBULIN E, PULMONARY eosinophilia, RESOURCE-limited settings, GENETIC testing
Abstract

Hyper IgE syndromes (HIES) is a heterogeneous group of Inborn Errors of Immunity characterized by eczema, recurrent skin and lung infections associated with eosinophilia and elevated IgE levels. Autosomal dominant HIES caused by loss of function mutations in Signal transducer and activator of transcription 3 (STAT3) gene is the prototype of these disorders. Over the past two decades, advent in genetic testing allowed the identification of ten other etiologies of HIES. Although Dedicator of Cytokinesis 8 (DOCK8) deficiency is no more classified among HIES etiologies but as a combined immunodeficiency, this disease, characterized by severe viral infections, food allergies, autoimmunity, and increased risk of malignancies, shares some clinical features with STAT3 deficiency. The present study highlights the diagnostic challenge in eleven patients with the clinical phenotype of HIES in a resource-limited region. Candidate gene strategy supported by clinical features, laboratory findings and functional investigations allowed the identification of two heterozygous STAT3 mutations in five patients, and a biallelic DOCK8 mutation in one patient. Whole Exome Sequencing allowed to unmask atypical presentations of DOCK8 deficiency in two patients presenting with clinical features reminiscent of STAT3 deficiency. Our study underlies the importance of the differential diagnosis between STAT3 and DOCK8 deficiencies in order to improve diagnostic criteria and to propose appropriate therapeutic approaches. In addition, our findings emphasize the role of NGS in detecting mutations that induce overlapping phenotypes. [ABSTRACT FROM AUTHOR]

Published
2023
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5. Case Report: FOXP3 Mutation in a Patient Presenting With ALPS

Author

Rais, Afef, primary, Mekki, Najla, additional, Fedhila, Faten, additional, Alosaimi, Mohammed Faraj, additional, Ben Khaled, Monia, additional, Zameli, Amal, additional, Agrebi, Nourhen, additional, Sellami, Maryam Kallel, additional, Geha, Raif, additional, Ben-Mustapha, Imen, additional, and Barbouche, Mohamed-Ridha, additional

Published
2021
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7. Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Author

Koon-Wing Chan, Chung-Yin Wong, Daniel Leung, Xingtian Yang, Fok, Susanna F. S., Mak, Priscilla H. S., Lei Yao, Wen Ma, Huawei Mao, Xiaodong Zhao, Weiling Liang, Singh, Surjit, Barbouche, Mohamed-Ridha, Jian-Xin He, Li-Ping Jiang, Woei-Kang Liew, Minh Huong Thi Le9, Muktiarti, Dina, Santos-Ocampo, Fatima Johanna, and Djidjik, Reda

Abstract

To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa. With the increased use of Next Generation Sequencing (NGS), we have shifted our diagnostic practice from SS to WES. However, SS was still one of the key diagnostic tools for IEI for the past two decades. Our centre has performed 2,024 IEI SS genetic tests, with in-house protocol designed specifically for 84 genes, in 1,376 patients with 744 identified to have disease-causing mutations (54.1%). The high diagnostic rate after just one round of targeted gene SS for each of the 5 common IEI (X-linked agammaglobulinemia (XLA) 77.4%, Wiskott–Aldrich syndrome (WAS) 69.2%, X-linked chronic granulomatous disease (XCGD) 59.5%, X-linked severe combined immunodeficiency (XSCID) 51.1%, and X-linked hyper-IgM syndrome (HIGM1) 58.1%) demonstrated targeted gene SS should remain the first-tier genetic test for the 5 common X-linked IEI. [ABSTRACT FROM AUTHOR]

Published
2022
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10. Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency

Author

Luk, Anderson Dik Wai, primary, Lee, Pamela P., additional, Mao, Huawei, additional, Chan, Koon-Wing, additional, Chen, Xiang Yuan, additional, Chen, Tong-Xin, additional, He, Jian Xin, additional, Kechout, Nadia, additional, Suri, Deepti, additional, Tao, Yin Bo, additional, Xu, Yong Bin, additional, Jiang, Li Ping, additional, Liew, Woei Kang, additional, Jirapongsananuruk, Orathai, additional, Daengsuwan, Tassalapa, additional, Gupta, Anju, additional, Singh, Surjit, additional, Rawat, Amit, additional, Abdul Latiff, Amir Hamzah, additional, Lee, Anselm Chi Wai, additional, Shek, Lynette P., additional, Nguyen, Thi Van Anh, additional, Chin, Tek Jee, additional, Chien, Yin Hsiu, additional, Latiff, Zarina Abdul, additional, Le, Thi Minh Huong, additional, Le, Nguyen Ngoc Quynh, additional, Lee, Bee Wah, additional, Li, Qiang, additional, Raj, Dinesh, additional, Barbouche, Mohamed-Ridha, additional, Thong, Meow-Keong, additional, Ang, Maria Carmen D., additional, Wang, Xiao Chuan, additional, Xu, Chen Guang, additional, Yu, Hai Guo, additional, Yu, Hsin-Hui, additional, Lee, Tsz Leung, additional, Yau, Felix Yat Sun, additional, Wong, Wilfred Hing-Sang, additional, Tu, Wenwei, additional, Yang, Wangling, additional, Chong, Patrick Chun Yin, additional, Ho, Marco Hok Kung, additional, and Lau, Yu Lung, additional

Published
2017
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12. Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication.

Author

Aghamohammadi A, Abolhassani H, Kutukculer N, Wassilak SG, Pallansch MA, Kluglein S, Quinn J, Sutter RW, Wang X, Sanal O, Latysheva T, Ikinciogullari A, Bernatowska E, Tuzankina IA, Costa-Carvalho BT, Franco JL, Somech R, Karakoc-Aydiner E, Singh S, Bezrodnik L, Espinosa-Rosales FJ, Shcherbina A, Lau YL, Nonoyama S, Modell F, Modell V, Barbouche MR, and McKinlay MA

Abstract

Immunodeficiency-associated vaccine-derived polioviruses (iVDPVs) have been isolated from primary immunodeficiency (PID) patients exposed to oral poliovirus vaccine (OPV). Patients may excrete poliovirus strains for months or years; the excreted viruses are frequently highly divergent from the parental OPV and have been shown to be as neurovirulent as wild virus. Thus, these patients represent a potential reservoir for transmission of neurovirulent polioviruses in the post-eradication era. In support of WHO recommendations to better estimate the prevalence of poliovirus excreters among PIDs and characterize genetic evolution of these strains, 635 patients including 570 with primary antibody deficiencies and 65 combined immunodeficiencies were studied from 13 OPV-using countries. Two stool samples were collected over 4 days, tested for enterovirus, and the poliovirus positive samples were sequenced. Thirteen patients (2%) excreted polioviruses, most for less than 2 months following identification of infection. Five (0.8%) were classified as iVDPVs (only in combined immunodeficiencies and mostly poliovirus serotype 2). Non-polio enteroviruses were detected in 30 patients (4.7%). Patients with combined immunodeficiencies had increased risk of delayed poliovirus clearance compared to primary antibody deficiencies. Usually, iVDPV was detected in subjects with combined immunodeficiencies in a short period of time after OPV exposure, most for less than 6 months. Surveillance for poliovirus excretion among PID patients should be reinforced until polio eradication is certified and the use of OPV is stopped. Survival rates among PID patients are improving in lower and middle income countries, and iVDPV excreters are identified more frequently. Antivirals or enhanced immunotherapies presently in development represent the only potential means to manage the treatment of prolonged excreters and the risk they present to the polio endgame.

Published
2017
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