Yayın: The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1
Tarih
Kurum Yazarları
Kılıç, Sara Şebnem
Yazarlar
Etzioni, Amos
Danışman
Dil
Türü
Yayıncı:
Springer/Plenum Publishers
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Özet
Leukocyte adhesion deficiency (LAD) type III is a rare syndrome characterized by severe recurrent infections, leukocytosis, and increased bleeding tendency. All integrins are normally expressed yet a defect in their activation leads to the observed clinical manifestations.
Less than 20 patients have been reported world wide and the primary genetic defect was identified in some of them. Here we describe the clinical features of patients in whom a mutation in the calcium and diacylglycerol-regulated guanine nucleotide exchange factor 1 (CalDAG GEF1) was found and compare them to other cases of LAD III and to animal models harboring a mutation in the CalDAG GEF1 gene.
The hallmarks of the syndrome are recurrent infections accompanied by severe bleeding episodes distinguished by osteopetrosis like bone abnormalities and neurodevelopmental defects.
Açıklama
Kaynak:
Anahtar Kelimeler:
Konusu
Adhesion, Bleeding, Immunodeficiency, Infections, Integrins, Leukocytes, Platelets, Congenital disorders, Integrin activation, Gene-mutations, Gefi, Lymphocytes, Platelets, Beta-2, Immunology
Alıntı
Kılıç, S. Ş. ve Etzioni, A. (2009). "The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1". Journal of Clinical Immunology, 29(1), 117-122.