Multiple Presentations of LRBA Deficiency: a Single-Center Experience

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Bal S. K., Haskologlu S., Serwas N. K., Islamoglu C., Aytekin C., Kendirli T., ...Daha Fazla

JOURNAL OF CLINICAL IMMUNOLOGY, cilt.37, sa.8, ss.790-800, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 37 Sayı: 8
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1007/s10875-017-0446-y
  • Dergi Adı: JOURNAL OF CLINICAL IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.790-800
  • Anahtar Kelimeler: LRBA deficiency, autoimmunity, ALPS, HSCT, STEM-CELL TRANSPLANTATION, MUTATION, DISEASE, AUTOIMMUNITY, PATIENT
  • Gazi Üniversitesi Adresli: Evet

Özet

LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency categorized as common variable immunodeficiency associated with autoimmune manifestations and inflammatory bowel diseases; however, the clinical spectrum has been extended. Here, we present our cohort of Turkish LRBA-deficient patients from a single center, demonstrating a diversity of clinical manifestations.