17 results on '"Kechout, Nadia"'
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2. Allergic manifestations of inborn errors of immunity and their impact on the diagnosis: A worldwide study
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El-Sayed, Zeinab A., El-Ghoneimy, Dalia H., Ortega-Martell, José A., Radwan, Nesrine, Aldave, Juan C., Al-Herz, Waleed, Al-Nesf, Maryam A., Condino-Neto, Antonio, Cole, Theresa, Eley, Brian, Erwa, Nahla H.H., Espinosa-Padilla, Sara, Faria, Emilia, Rosario Filho, Nelson A., Fuleihan, Ramsay, Galal, Nermeen, Garabedian, Elizabeth, Hintermeyer, Mary, Imai, Kohsuke, Irani, Carla, Kamal, Ebtihal, Kechout, Nadia, Klocperk, Adam, Levin, Michael, Milota, Tomas, Ouederni, Monia, Paganelli, Roberto, Pignata, Claudio, Qamar, Farah N., Quinti, Isabella, Qureshi, Sonia, Radhakrishnan, Nita, Rezaei, Nima, Routes, John, Singh, Surjit, Siniah, Sangeetha, Abdel-Hakam Taha, Intisar, Tanno, Luciana K., Van Dort, Ben, Volokha, Alla, and Sullivan, Kathleen
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- 2022
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3. The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity
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Baris, Safa, Abolhassani, Hassan, Massaad, Michel J., Al-Nesf, Maryam, Chavoshzadeh, Zahra, Keles, Sevgi, Reisli, Ismail, Tahiat, Azzeddine, Shendi, Hiba Mohammad, Elaziz, Dalia Abd, Belaid, Brahim, Al Dhaheri, Fatima, Haskologlu, Sule, Dogu, Figen, Ben-Mustapha, Imen, Sobh, Ali, Galal, Nermeen, Meshaal, Safa, Elhawary, Rabab, El-marsafy, Aisha, Alroqi, Fayhan J., Al-Saud, Bandar, Al-Ahmad, Mona, Al Farsi, Tariq, AL Sukaiti, Nashat, Al-Tamemi, Salem, Mehawej, Cybel, Dbaibo, Ghassan, ElGhazali, Gehad, Kilic, Sara Sebnem, Genel, Ferah, Kiykim, Ayca, Musabak, Ugur, Artac, Hasibe, Guner, Sukru Nail, Boukari, Rachida, Djidjik, Reda, Kechout, Nadia, Cagdas, Deniz, El-Sayed, Zeinab Awad, Karakoc-Aydiner, Elif, Alzyoud, Raed, Barbouche, Mohamed Ridha, Adeli, Mehdi, Wakim, Rima Hanna, Reda, Shereen M., Ikinciogullari, Aydan, Ozen, Ahmet, Bousfiha, Aziz, Al-Mousa, Hamoud, Rezaei, Nima, Al-Herz, Waleed, and Geha, Raif S.
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- 2022
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4. Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families
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Ben-Ali, Meriem, Kechout, Nadia, Mekki, Najla, Yang, Jing, Chan, Koon Wing, Barakat, Abdelhamid, Aadam, Zahra, Gamara, Jouda, Gargouri, Lamia, Largueche, Beya, BelHadj-Hmida, Nabil, Nedri, Amel, Ameur, Houcine Ben, Mellouli, Fethi, Boukari, Rachida, Bejaoui, Mohamed, Bousfiha, Aziz, Ben-Mustapha, Imen, Lau, Yu-Lung, and Barbouche, Mohamed-Ridha
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- 2020
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5. X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world
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El-Sayed, Zeinab A., Abramova, Irina, Aldave, Juan Carlos, Al-Herz, Waleed, Bezrodnik, Liliana, Boukari, Rachida, Bousfiha, Ahmed Aziz, Cancrini, Caterina, Condino-Neto, Antonio, Dbaibo, Ghassan, Derfalvi, Beata, Dogu, Figen, Edgar, J.David M., Eley, Brian, El-Owaidy, Rasha Hasan, Espinosa-Padilla, Sara Elva, Galal, Nermeen, Haerynck, Filomeen, Hanna-Wakim, Rima, Hossny, Elham, Ikinciogullari, Aydan, Kamal, Ebtihal, Kanegane, Hirokazu, Kechout, Nadia, Lau, Yu Lung, Morio, Tomohiro, Moschese, Viviana, Neves, Joao Farela, Ouederni, Monia, Paganelli, Roberto, Paris, Kenneth, Pignata, Claudio, Plebani, Alessandro, Qamar, Farah Naz, Qureshi, Sonia, Radhakrishnan, Nita, Rezaei, Nima, Rosario, Nelson, Routes, John, Sanchez, Berta, Sediva, Anna, Seppanen, Mikko RJ., Serrano, Edith Gonzalez, Shcherbina, Anna, Singh, Surjit, Siniah, Sangeetha, Spadaro, Guiseppe, Tang, Mimi, Vinet, Ana Maria, Volokha, Alla, and Sullivan, Kathleen E.
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- 2019
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6. The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity
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Baris, Safa, primary, Abolhassani, Hassan, additional, Massaad, Michel J., additional, Al-Nesf, Maryam, additional, Chavoshzadeh, Zahra, additional, Keles, Sevgi, additional, Reisli, Ismail, additional, Tahiat, Azzeddine, additional, Shendi, Hiba Mohammad, additional, Elaziz, Dalia Abd, additional, Belaid, Brahim, additional, Al Dhaheri, Fatima, additional, Haskologlu, Sule, additional, Dogu, Figen, additional, Ben-Mustapha, Imen, additional, Sobh, Ali, additional, Galal, Nermeen, additional, Meshaal, Safa, additional, Elhawary, Rabab, additional, El-marsafy, Aisha, additional, Alroqi, Fayhan J., additional, Al-Saud, Bandar, additional, Al-Ahmad, Mona, additional, Al Farsi, Tariq, additional, AL Sukaiti, Nashat, additional, Al-Tamemi, Salem, additional, Mehawej, Cybel, additional, Dbaibo, Ghassan, additional, ElGhazali, Gehad, additional, Kilic, Sara Sebnem, additional, Genel, Ferah, additional, Kiykim, Ayca, additional, Musabak, Ugur, additional, Artac, Hasibe, additional, Guner, Sukru Nail, additional, Boukari, Rachida, additional, Djidjik, Reda, additional, Kechout, Nadia, additional, Cagdas, Deniz, additional, El-Sayed, Zeinab Awad, additional, Karakoc-Aydiner, Elif, additional, Alzyoud, Raed, additional, Barbouche, Mohamed Ridha, additional, Adeli, Mehdi, additional, Wakim, Rima Hanna, additional, Reda, Shereen M., additional, Ikinciogullari, Aydan, additional, Ozen, Ahmet, additional, Bousfiha, Aziz, additional, Al-Mousa, Hamoud, additional, Rezaei, Nima, additional, Al-Herz, Waleed, additional, and Geha, Raif S., additional
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- 2023
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7. Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases
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Conti, Francesca, Lugo-Reyes, Saul Oswaldo, Blancas Galicia, Lizbeth, He, Jianxin, Aksu, Güzide, Borges de Oliveira, Edgar, Jr., Deswarte, Caroline, Hubeau, Marjorie, Karaca, Neslihan, de Suremain, Maylis, Guérin, Antoine, Baba, Laila Ait, Prando, Carolina, Guerrero, Gloria G., Emiroglu, Melike, Öz, Fatma Nur, Yamazaki Nakashimada, Marco Antonio, Gonzalez Serrano, Edith, Espinosa, Sara, Barlan, Isil, Pérez, Nestor, Regairaz, Lorena, Guidos Morales, Héctor Eduardo, Bezrodnik, Liliana, Di Giovanni, Daniela, Dbaibo, Ghassan, Ailal, Fatima, Galicchio, Miguel, Oleastro, Matias, Chemli, Jalel, Danielian, Silvia, Perez, Laura, Ortega, Maria Claudia, Soto Lavin, Susana, Hertecant, Joseph, Anal, Ozden, Kechout, Nadia, Al-Idrissi, Eman, ElGhazali, Gehad, Bondarenko, Anastasia, Chernyshova, Liudmyla, Ciznar, Peter, Herbigneaux, Rose-Marie, Diabate, Aminata, Ndaga, Stéphanie, Konte, Barik, Czarna, Ambre, Migaud, Mélanie, Pedraza-Sánchez, Sigifredo, Zaidi, Mussaret Bano, Vogt, Guillaume, Blanche, Stéphane, Benmustapha, Imen, Mansouri, Davood, Abel, Laurent, Boisson-Dupuis, Stéphanie, Mahlaoui, Nizar, Bousfiha, Ahmed Aziz, Picard, Capucine, Barbouche, Ridha, Al-Muhsen, Saleh, Espinosa-Rosales, Francisco J., Kütükçüler, Necil, Condino-Neto, Antonio, Casanova, Jean-Laurent, and Bustamante, Jacinta
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- 2016
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8. 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
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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
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- 2022
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9. X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations
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Aadam, Zahra, Kechout, Nadia, Barakat, Abdelhamid, Chan, Koon-Wing, Ben-Ali, Meriem, Ben-Mustapha, Imen, Zidi, Fethi, Ailal, Fatima, Attal, Nabila, Doudou, Fatouma, Abbadi, Mohamed-Cherif, Kaddache, Chawki, Smati, Leila, Touri, Nabila, Chemli, Jalel, Gargah, Tahar, Brini, Ines, Bakhchane, Amina, Charoute, Hicham, Jeddane, Leila, El Atiqi, Sara, El Hafidi, Naïma, Hida, Mustapha, Saile, Rachid, Alj, Hanane Salih, Boukari, Rachida, Bejaoui, Mohamed, Najib, Jilali, Barbouche, Mohamed-Ridha, Lau, Yu-Lung, Mellouli, Fethi, and Bousfiha, Ahmed Aziz
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- 2016
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10. Algerian Registry for Inborn Errors of Immunity in Children: Report of 887 children (1985 - 2021)
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Yagoubi, Abdelghani, primary, Tahiat, Azzeddine, additional, Touri, Nabila Souad, additional, Ladj, Mohamed Samir, additional, Drali, Ouardia, additional, Belaid, Brahim, additional, Mohand-Oussaid, Ayda, additional, Dehimi, Abdelhak, additional, Belbouab, Reda, additional, Ferhani, Yacine, additional, Melzi, Souhila, additional, Guedouar, Assia, additional, Hakem, Saliha, additional, Khemici, Ouardia, additional, Inouri, Yacine, additional, Meddour, Yanis, additional, Dib, Saadeddine, additional, Mansouri, Zohra, additional, Iddir, Samir, additional, Boufersaoui, Abderrahmane, additional, Boudiaf, Houda, additional, Bouhdjila, Abderrachid, additional, Ibsaine, Ouardia, additional, Maouche, Hachemi, additional, Dahlouk, Djazia, additional, Mekki, Azzedine, additional, Bioud, Belkacem, additional, Bouzerar, Zahir, additional, Zeroual, Zoulikha, additional, Benhassine, Fadila, additional, Bekkat-Berkani, Dahila, additional, Naamoune, Soumeya, additional, Salah, Samir Sofiane, additional, Chaib, Samia, additional, Attal, Nabila, additional, Bensaadi, Nadia, additional, Bouchair, Nadira, additional, Cherif, Nacira, additional, Kedji, Leila, additional, Bendeddouche, Salih, additional, Atif, Mohamed Lamine, additional, Djenouhat, Kamel, additional, Kechout, Nadia, additional, Djidjik, Reda, additional, Benhalla, Keltoum Nafissa, additional, Smati, Leila, additional, and Boukari, Rachida, additional
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- 2022
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11. Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families
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Ben-Ali, Meriem, primary, Kechout, Nadia, additional, Mekki, Najla, additional, Yang, Jing, additional, Chan, Koon Wing, additional, Barakat, Abdelhamid, additional, Aadam, Zahra, additional, Gamara, Jouda, additional, Gargouri, Lamia, additional, Largueche, Beya, additional, BelHadj-Hmida, Nabil, additional, Nedri, Amel, additional, Ameur, Houcine Ben, additional, Mellouli, Fethi, additional, Boukari, Rachida, additional, Bejaoui, Mohamed, additional, Bousfiha, Aziz, additional, Ben-Mustapha, Imen, additional, Lau, Yu-Lung, additional, and Barbouche, Mohamed-Ridha, additional
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- 2019
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12. NOVEL MUTATION IN BTK GENE
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KECHOUT NADIA
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- 2017
13. Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency
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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
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- 2017
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14. Family history of early infant Death correlates with earlier age at Diagnosis But not shorter Time to Diagnosis for severe combined mmunodeficiency.
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Dik Wai Luk, Anderson, Lee, Pamela P., Huawei Mao, Koon-Wing Chan, Xiang Yuan Chen, Tong-Xin Chen, Jian Xin He, Kechout, Nadia, Suri, Deepti, Yin Bo Tao, Yong Bin Xu, Li Ping Jiang, Woei Kang Liew, Jirapongsananuruk, Orathai, Daengsuwan, Tassalapa, Gupta, Anju, Singh, Surjit, Rawat, Amit, Hamzah Abdul Latiff, Amir, and Anselm Chi Wai Lee
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NEONATAL mortality ,SEVERE combined immunodeficiency ,HEMATOPOIETIC stem cell transplantation ,DIAGNOSIS - Abstract
Background: Severe combined immunodeficiency (SCID) is fatal unless treated with hematopoietic stem cell transplant. Delay in diagnosis is common without newborn screening. Family history of infant death due to infection or known SCID (FH) has been associated with earlier diagnosis. Objective: The aim of this study was to identify the clinical features that affect age at diagnosis (AD) and time to the diagnosis of SCID. Methods: From 2005 to 2016, 147 SCID patients were referred to the Asian Primary Immunodeficiency Network. Patients with genetic diagnosis, age at presentation (AP), and AD were selected for study. Results: A total of 88 different SCID gene mutations were identified in 94 patients, including 49 IL2RG mutations, 12 RAG1 mutations, 8 RAG2 mutations, 7 JAK3 mutations, 4 DCLRE1C mutations, 4 IL7R mutations, 2 RFXANK mutations, and 2 ADA mutations. A total of 29 mutations were previously unreported. Eighty-three of the 94 patients fulfilled the selection criteria. Their median AD was 4 months, and the time to diagnosis was 2 months. The commonest SCID was X-linked (n = 57). A total of 29 patients had a positive FH. Candidiasis (n = 27) and bacillus Calmette–Guérin (BCG) vaccine infection (n = 19) were the commonest infections. The median age for candidiasis and BCG infection documented were 3 months and 4 months, respectively. The median absolute lymphocyte count (ALC) was 1.05 × 109/L with over 88% patients below 3 × 109/L. Positive FH was associated with earlier AP by 1 month (p = 0.002) and diagnosis by 2 months (p = 0.008), but not shorter time to diagnosis (p = 0.494). Candidiasis was associated with later AD by 2 months (p = 0.008) and longer time to diagnosis by 0.55 months (p = 0.003). BCG infections were not associated with age or time to diagnosis. Conclusion: FH was useful to aid earlier diagnosis but was overlooked by clinicians and not by parents. Similarly, typical clinical features of SCID were not recognized by clinicians to shorten the time to diagnosis. We suggest that lymphocyte subset should be performed for any infant with one or more of the following four clinical features: FH, candidiasis, BCG infections, and ALC below 3 × 10
9 /L. [ABSTRACT FROM AUTHOR]- Published
- 2017
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15. Study of primary immunodeficiencies in Algeria
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Kechout, Nadia, primary, Attal, Nabila, additional, Doudou, Fetouma, additional, Boukari, Rachida, additional, Ardjoun, Mohamed, additional, and Abbadi, Mohamed Cherif, additional
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- 2011
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16. Consensus Middle East and North Africa Registry on Inborn Errors of Immunity
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Salem Al-Tamemi, Amel Hassen, Ismail Reisli, André Mégarbané, Waleed Al-Herz, Fred Modell, Gulnara Nasrullayeva, Ahmet Ozen, Jessica Quinn, Elif Karakoc-Aydiner, Nabila Attal, Safa Baris, Reda Djidjik, Nadia Kechout, Ridha Barbouche, László Maródi, Maryam Ali Al-Nesf, Necil Kutukculer, Samir Ladj, Mehdi Adeli, Khalissa Saidani, Ragheed Rizk, Yacine Ferhani, Sara Sebnem Kilic, Mona Al-Ahmed, Vicki Modell, Hassan Abolhassani, Marwa H. Elnagdy, Kamel Djenouhat, Reda Belbouab, Nima Rezaei, Asghar Aghamohammadi, Rachida Boukari, Samaneh Delavari, Carla Irani, Raif S. Geha, Hulya Kose, Nesrin Gulez, Ali Sobh, Ferah Genel, Cybel Mehawej, Ezgi Topyildiz, Azzeddine Tahiat, Aziz Bousfiha, Reza Yazdani, Brahim Belaid, Aghamohammadi, Asghar, Rezaei, Nima, Yazdani, Reza, Delavari, Samaneh, Kutukculer, Necil, Topyildiz, Ezgi, Ozen, Ahmet, Baris, Safa, Karakoc-Aydiner, Elif, Kilic, Sara Sebnem, Kose, Hulya, Gulez, Nesrin, Genel, Ferah, Reisli, Ismail, Djenouhat, Kamel, Tahiat, Azzeddine, Boukari, Rachida, Ladj, Samir, Belbouab, Reda, Ferhani, Yacine, Belaid, Brahim, Djidjik, Reda, Kechout, Nadia, Attal, Nabila, Saidani, Khalissa, Barbouche, Ridha, Bousfiha, Aziz, Sobh, Ali, Rizk, Ragheed, Elnagdy, Marwa H., Al-Ahmed, Mona, Al-Tamemi, Salem, Nasrullayeva, Gulnara, Adeli, Mehdi, Al-Nesf, Maryam, Hassen, Amel, Mehawej, Cybel, Irani, Carla, Megarbane, Andre, Quinn, Jessica, Marodi, Laszlo, Modell, Vicki, Modell, Fred, Al-Herz, Waleed, Geha, Raif S., and Abolhassani, Hassan
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0301 basic medicine ,Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Consensus ,Adolescent ,Epidemiology ,Primary Immunodeficiency Diseases ,Immunology ,Population ,Disease ,03 medical and health sciences ,Middle East ,Young Adult ,0302 clinical medicine ,Africa, Northern ,Diagnosis ,medicine ,Immunology and Allergy ,Humans ,Registries ,Family history ,education ,Child ,Immunodeficiency ,Aged ,education.field_of_study ,Primary immunodeficiency ,business.industry ,Mortality rate ,Variants ,Genetic Diseases, Inborn ,Burden of disease ,Disability-Adjusted Life Years ,Inborn errors of immunity ,Middle Aged ,medicine.disease ,030104 developmental biology ,Cohort ,Female ,Original Article ,Molecular diagnosis ,business ,030215 immunology - Abstract
Background Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis. Methods We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. The data was collected from national registries and diverse databases such as the Asian Pacific Society for Immunodeficiencies (APSID) registry, African Society for Immunodeficiencies (ASID) registry, Jeffrey Modell Foundation (JMF) registry, J Project centers, and International Consortium on Immune Deficiency (ICID) centers. Results We identified 17,120 patients with IEI, among which females represented 39.4%. Parental consanguinity was present in 60.5% of cases and 27.3% of the patients were from families with a confirmed previous family history of IEI. The median age of patients at the onset of disease was 36 months and the median delay in diagnosis was 41 months. The rate of registered IEI patients ranges between 0.02 and 7.58 per 100,000 population, and the lowest rates were in countries with the highest rates of disability-adjusted life years (DALY) and death rates for children. Predominantly antibody deficiencies were the most frequent IEI entities diagnosed in 41.2% of the cohort. Among 5871 patients genetically evaluated, the diagnostic yield was 83% with the majority (65.2%) having autosomal recessive defects. The mortality rate was the highest in patients with non-syndromic combined immunodeficiency (51.7%, median age: 3.5 years) and particularly in patients with mutations in specific genes associated with this phenotype (RFXANK, RAG1, and IL2RG). Conclusions This comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region. The high yield of genetic diagnosis of IEI in this region has important implications for prevention, prognosis, treatment, and resource allocation., Karolinska Institute, Open access funding provided by Karolinska Institute.
- Published
- 2021
17. Consensus Middle East and North Africa Registry on Inborn Errors of Immunity.
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Aghamohammadi A, Rezaei N, Yazdani R, Delavari S, Kutukculer N, Topyildiz E, Ozen A, Baris S, Karakoc-Aydiner E, Kilic SS, Kose H, Gulez N, Genel F, Reisli I, Djenouhat K, Tahiat A, Boukari R, Ladj S, Belbouab R, Ferhani Y, Belaid B, Djidjik R, Kechout N, Attal N, Saidani K, Barbouche R, Bousfiha A, Sobh A, Rizk R, Elnagdy MH, Al-Ahmed M, Al-Tamemi S, Nasrullayeva G, Adeli M, Al-Nesf M, Hassen A, Mehawej C, Irani C, Megarbane A, Quinn J, Maródi L, Modell V, Modell F, Al-Herz W, Geha RS, and Abolhassani H
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- Adolescent, Adult, Africa, Northern epidemiology, Aged, Child, Consensus, Disability-Adjusted Life Years, Female, Humans, Male, Middle Aged, Middle East epidemiology, Registries, Young Adult, Genetic Diseases, Inborn epidemiology, Primary Immunodeficiency Diseases epidemiology
- Abstract
Background: Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis., Methods: We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. The data was collected from national registries and diverse databases such as the Asian Pacific Society for Immunodeficiencies (APSID) registry, African Society for Immunodeficiencies (ASID) registry, Jeffrey Modell Foundation (JMF) registry, J Project centers, and International Consortium on Immune Deficiency (ICID) centers., Results: We identified 17,120 patients with IEI, among which females represented 39.4%. Parental consanguinity was present in 60.5% of cases and 27.3% of the patients were from families with a confirmed previous family history of IEI. The median age of patients at the onset of disease was 36 months and the median delay in diagnosis was 41 months. The rate of registered IEI patients ranges between 0.02 and 7.58 per 100,000 population, and the lowest rates were in countries with the highest rates of disability-adjusted life years (DALY) and death rates for children. Predominantly antibody deficiencies were the most frequent IEI entities diagnosed in 41.2% of the cohort. Among 5871 patients genetically evaluated, the diagnostic yield was 83% with the majority (65.2%) having autosomal recessive defects. The mortality rate was the highest in patients with non-syndromic combined immunodeficiency (51.7%, median age: 3.5 years) and particularly in patients with mutations in specific genes associated with this phenotype (RFXANK, RAG1, and IL2RG)., Conclusions: This comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region. The high yield of genetic diagnosis of IEI in this region has important implications for prevention, prognosis, treatment, and resource allocation., (© 2021. The Author(s).)
- Published
- 2021
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