LAD Cases
LAD Cases
Leucocyte adhesion deficiency disease is a type of immunodeficiency resulted as loss of function to reaction to infectious disease, pus formation, disrupted wound healing. Here we report two LAD1 and two LAD3 with their clinical and functional analysis. 3 of 4 patients are Syrian origin and born into consanguineous families. Their diagnosis are made by flow cytometry and due to high leucocyte count. LAD3 patients have normal CD11abc CD18 levels so they’re diagnosed by adhesion assay.Both confirmed with genetical mutations on ITGB2 and FERMT3. 3 of 4 underwent successful HSCT but one is unfortunately passed away.
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- 1. Van de Vijver, Edith, et al. "Hematologically important mutations: leukocyte adhesion deficiency (first update)." Blood Cells, Molecules, and Diseases 48.1 (2012): 53-61. 2. Hanna, Suhair, and Amos Etzioni. "Leukocyte adhesion deficiencies." Annals of the New York Academy of Sciences 1250.1 (2012): 50-55. 3. Bunting, Michaeline, et al. "Leukocyte adhesion deficiency syndromes: adhesion and tethering defects involving β 2 integrins and selectin ligands." Current opinion in hematology 9.1 (2002): 30-35.
- ISSN: 2147-6470
- Başlangıç: 2013
- Yayıncı: MediHealth Academy Yayıncılık
Sayıdaki Diğer Makaleler
Gülüzar GÜRHAN, Bülent ATAŞ, Mesut PİŞKİN
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