Clinical, Immunological and Genetic Findings of a Large Tunisian Series of Major Histocompatibility Complex Class II Deficiency Patients
| Autor: | Monia Khemiri, Mohamed Bejaoui, Khaoula Ben-Farhat, J. Bouguila, Naouel Guirat-Dhouib, Mohamed-Ridha Barbouche, Meriem Ben-Ali, Lamia Sfaihi Ben-Mansour, Beya Larguèche, Imen Ben-Mustapha, Fethi Mellouli, Jalel Chemli, Emna Dhemaied |
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| Rok vydání: | 2013 |
| Předmět: |
Diarrhea
Male Tunisia DNA Mutational Analysis Immunology Consanguinity Biology medicine.disease_cause Immune system Prenatal Diagnosis medicine Humans Immunology and Allergy Genetic Testing Respiratory Tract Infections HLA-DR Antigen Retrospective Studies Sequence Deletion Genetic testing Genetics Mutation medicine.diagnostic_test Immunologic Deficiency Syndromes Infant HLA-DR Antigens medicine.disease Founder Effect Failure to Thrive Pedigree DNA-Binding Proteins Child Preschool Failure to thrive Primary immunodeficiency Female medicine.symptom Transcription Factors Founder effect |
| Zdroj: | Journal of Clinical Immunology. 33:865-870 |
| ISSN: | 1573-2592 0271-9142 |
| DOI: | 10.1007/s10875-013-9863-8 |
| Popis: | Major histocompatibility complex class II (MHC-II) expression deficiency is a combined primary immunodeficiency leading to the impairment of the cellular and humoral immune responses. A majority of affected patients belong to consanguineous families particularly from the Maghreb, where a founder effect for a highly frequent mutation (named c.338-25_338del26) in the RFXANK gene was reported. Herein, we report the largest single Maghrebian country series of MHC-II deficient patients.In Tunisia, among 551 PIDs diagnosed from 1993 to 2011, 54 had an MHC-II deficiency. The clinical features and immunological investigations were retrospectively analyzed in 34 children of them belonging to 28 kindred. The genetic study included the c.338-25_338del26 screening by the amplification of the affected region using polymerase chain reaction (PCR) followed by direct sequencing.Consanguinity was present in 22 out of 28 families. Mean age at the first infection was 6.1 months. Chronic diarrhea with failure to thrive and pulmonary infections were the most common manifestations occurring in 26 and 28 patients respectively. The most specific laboratory findings were the defect of MHC-II (HLA-DR) expression in all patients. The c.338-25_338del26 mutation was identified in 25 of them.In Maghrebian settings, pediatricians should definitely consider this diagnosis in the presence of an early onset of severe and recurrent infections of the respiratory and intestinal tracts, particularly protracted diarrhea with a failure to thrive. The founder effect for the c.338-25_338del26 mutation in the RFXANK gene is also confirmed, facilitating prenatal diagnosis as a preventive approach in the Tunisian affected families with severe forms, particularly in the context of limited access to bone marrow transplantation. |
| Databáze: | OpenAIRE |
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