Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: Identification of 9 novel mutations
| Autor: | Kanjaksha Ghosh, Mamta Manglani, Manisha Madkaikar, Surjit Singh, Snehal Mhatre, Sushant Chavan, Deepti Suri, Amita Agrawal, Khushnooma Italia, Anju Mishra, Meghna Rao, Mukesh Desai, Maya Gupta |
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| Rok vydání: | 2015 |
| Předmět: |
Male
DNA Mutational Analysis Leukocyte-Adhesion Deficiency Syndrome India Prenatal diagnosis CD18 Disease Biology medicine.disease_cause White People Flow cytometry Prenatal Diagnosis Leukocytes medicine Humans Molecular Biology Leukocyte adhesion deficiency Mutation medicine.diagnostic_test Infant Newborn Infant Cell Biology Hematology medicine.disease DNA extraction CD18 Antigens Immunology Absolute neutrophil count Molecular Medicine Female |
| Zdroj: | Blood Cells, Molecules, and Diseases. 54:217-223 |
| ISSN: | 1079-9796 |
| DOI: | 10.1016/j.bcmd.2015.01.012 |
| Popis: | Purpose Leukocyte adhesion deficiency type-I (LAD-I) is caused by mutations in the ITGB2 gene, encoding the β 2 -subunit of β 2 -integrin (CD18) which leads to markedly reduced expression of CD18 on leukocytes resulting into recurrent life threatening infections. Here we aim to identify the molecular defects underlying LAD-I in Indian patients and correlate with the clinical presentation. Methods Blood was collected from 30 patients and their parents for absolute neutrophil count, expression of CD18 and CD11 by flow cytometry and DNA extraction. PCR and DNA sequencing of the ITGB2 gene was done for mutation characterization. Results Phenotypically, 22 patients were LAD-I 0 , 1 was LAD-I − and 7 were LAD-I + showing no expression and reduced expression of CD18 respectively. Nine novel mutations in 15 patients and 11 known mutations in 16 patients were detected. Prenatal diagnosis was performed for 5 families. Conclusion In this study 30 patients were phenotypically and genotypically evaluated for a less known disease LAD-I. Unavailability of curative options to majority of the patients and high cost of supportive care emphasize the need to increase awareness about a suspicious case so that timely management can be given to the patient and prenatal diagnosis can be offered to their families. |
| Databáze: | OpenAIRE |
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