The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1.

Kilic S. Ş., Etzioni A.

Journal of clinical immunology, cilt.29, sa.1, ss.117-22, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 1
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1007/s10875-008-9226-z
  • Dergi Adı: Journal of clinical immunology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.117-22
  • Anahtar Kelimeler: Leukocytes, platelets, integrins, adhesion, infections, bleeding, immunodeficiency, CONGENITAL DISORDERS, INTEGRIN ACTIVATION, GENE-MUTATIONS, GEFI, LYMPHOCYTES, PLATELETS, BETA-2
  • Bursa Uludağ Üniversitesi Adresli: Evet

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.