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3 results on '"Kechout, Nadia"'

1. X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.

Author

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, and Jeddane, Leila

Subjects
*AGAMMAGLOBULINEMIA, *GENETIC mutation, *IMMUNODEFICIENCY, *GENETICS, *PATIENTS, *BRUTON tyrosine kinase
Abstract

Purpose: X-linked agammagobulinemia (XLA) is a primary immunodeficiency caused by Bruton's tyrosine kinase ( BTK) gene defect. XLA patients have absent or reduced number of peripheral B cells and a profound deficiency in all immunoglobulin isotypes. This multicenter study reports the clinical, immunological and molecular features of Bruton's disease in 40 North African male patients. Methods: Fifty male out of 63 (male and female) patients diagnosed with serum agammaglobulinemia and non detectable to less than 2 % peripheral B cells were enrolled. The search for BTK gene mutations was performed for all of them by genomic DNA amplification and Sanger sequencing. Results: We identified 33 different mutations in the BTK gene in 40 patients including 12 missense mutations, 6 nonsense mutations, 6 splice-site mutations, 5 frameshift, 2 large deletions, one complex mutation and one in-frame deletion. Seventeen of these mutations are novel. This large series shows a lower frequency of XLA among male patients from North Africa with agammaglobulinemia and absent to low B cells compared with other international studies (63.5 % vs 85 %). No strong evidence for genotype-phenotype correlation was observed. Conclusions: This study adds to other reports from highly consanguineous North African populations, showing lower frequency of X-linked forms as compared to AR forms of the same primary immunodeficiency. Furthermore, a large number of novel BTK mutations were identified and could further help identify carriers for genetic counseling. [ABSTRACT FROM AUTHOR]

Published
2016
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2. Study of primary immunodeficiencies in Algeria.

Author

Kechout, Nadia, Attal, Nabila, Doudou, Fetouma, Boukari, Rachida, Ardjoun, Mohamed, and Abbadi, Mohamed Cherif

Subjects
*IMMUNODEFICIENCY
Abstract

An abstract of the paper "Study of primary immunodeficiencies in Algeria," by Nadia Kechout and colleagues is presented.

Published
2011
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3. Consensus Middle East and North Africa Registry on Inborn Errors of Immunity

Author

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

Subjects
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

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