title: Vitamin D deficiency in the absence of enteropathy in three cases with common variable immunodeficiency.
abstract: BACKGROUND
  Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia and a defect in antibody production. Herein we describe 3 patients diagnosed with CVID in whom vitamin D deficiency was detected in the absence of enteropathy.
  
  
  METHODS
  Biochemical and immunological analysis, serum osteocalcin, parathyroid hormone, 25-OH vitamin D, 1,25(OH)(2) vitamin D, vitamin A, vitamin E, urinary calcium, and deoxypyridinoline measurements were carried out. Vitamin D receptor (VDR) expression was examined in the peripheral blood mononuclear cells and hair follicles by reverse transcriptase polymerase chain reaction. VDR gene polymorphism was evaluated by high-performance liquid chromatography.
  
  
  RESULTS
  None of the patients presented nutrient deficiencies other than vitamin D. Two of them were free of osteomalacia-related symptoms. VDR expression was found to be lower in the peripheral blood mononuclear cells and hair follicles when compared to the control group.
  
  
  CONCLUSIONS
  Patients with CVID may present asymptomatic vitamin D deficiency. Vitamin D and VDRs play an important role in the innate immune system and modulate Toll-like receptor-related responses. Delay in diagnosis may predispose these patients not only to irreparable bone loss but also to infections, and autoimmune and malignant disorders, thus emphasizing the importance of prompt intervention.
authors.affiliation: Division of Allergy and Clinical Immunology, Ege University Medical Faculty, Izmir, Turkey. tanmehomu@yahoo.com
authors.forename: Omür
authors.initials: O
authors.lastname: Ardeniz
authors.forename: Ciğir Biray
authors.initials: CB
authors.lastname: Avci
authors.forename: Aytul
authors.initials: A
authors.lastname: Sin
authors.forename: Gokhan
authors.initials: G
authors.lastname: Ozgen
authors.forename: Fulya
authors.initials: F
authors.lastname: Gunsar
authors.forename: Nihal
authors.initials: N
authors.lastname: Mete
authors.forename: Okan
authors.initials: O
authors.lastname: Gulbahar
authors.forename: Ali
authors.initials: A
authors.lastname: Kokuludag
mesh_terms: D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood; D017074:Common Variable Immunodeficiency / Q000150:complications* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007410:Intestinal Diseases; D018167:Receptors, Calcitriol / Q000096:biosynthesis; D014808:Vitamin D Deficiency / Q000150:complications* / Q000503:physiopathology*
chemical_list: D018167:Receptors, Calcitriol; D000469:Alkaline Phosphatase