title: Phenotyping and follow up of forty-seven Iranian patients with common variable immunodeficiency.
abstract: BACKGROUND
  Common variable immune deficiency (CVID) is a heterogeneous syndrome with a wide variety of signs and symptoms. This study describes the phenotyping and survival of the CVID patients in the allergy and clinical immunology department of Rasol-E-Akram Hospital of Iran University of Medical Sciences in Tehran.
  
  
  METHODS
  We retrospectively reviewed hospital files of CVID patients in our department until January 2014. All patients were diagnosed with standard diagnostic criteria of CVID, treated and visited monthly, during the follow-up period. We divided the patients into four phenotypes; infection only, cytopenia, polyclonal lymphocytic infiltration and unexplained enteropathy. The immunologic, demographic and clinical findings in different phenotypes were analysed.
  
  
  RESULTS
  The study included 47 CVID patients with mean age at onset of symptoms and diagnosis of 11.2 and 20.2 years, respectively. Phenotyping of our patients was: only infection (62%), cytopenia (26%) and PLI (19%) and 94% of cases had only one phenotype. We did not find a significant relation between the clinical phenotypes and immunologic or demographic data. Rate of parental consanguinity in our cases was 47%. Parental consanguinity was related to lower age at onset, lower age at diagnosis and higher baseline IgG levels. Patients with malignancy and autoimmunity had significantly higher age at onset. Our patients were followed-up for 6.9 years and the mortality rate during this time was 6%.
  
  
  CONCLUSIONS
  Parental consanguinity and age at onset of CVID symptoms may have important roles in CVID manifestations.
authors.affiliation: Allergy and Clinical Immunology Department of Rasol-E-Akram Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
authors.forename: Saba
authors.initials: S
authors.lastname: Arshi
authors.affiliation: Allergy and Clinical Immunology Department of Rasol-E-Akram Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Nabavi
authors.affiliation: Allergy and Clinical Immunology Department of Rasol-E-Akram Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
authors.forename: Mohammad Hasan
authors.initials: MH
authors.lastname: Bemanian
authors.affiliation: Digestive Oncology Research Center, Digestive Disease Research Institute, Tehran University of Medical Sciences (TUMS), Tehran, Iran.
authors.forename: Ramin
authors.initials: R
authors.lastname: Shakeri
authors.affiliation: Allergy and Clinical Immunology Department of Rasol-E-Akram Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
authors.forename: Behrang
authors.initials: B
authors.lastname: Taghvaei
authors.affiliation: Allergy and Clinical Immunology Department of Rasol-E-Akram Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran; Research Center of Otolaryngology and Head & Neck Surgery, IUMS, Tehran, Iran.
authors.forename: Babak
authors.initials: B
authors.lastname: Ghalebaghi
authors.affiliation: Allergy and Clinical Immunology Department of Mofid Hospital, Shaheed Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
authors.forename: Delara
authors.initials: D
authors.lastname: Babaie
authors.affiliation: Allergy and Clinical Immunology Department of Rasol-E-Akram Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Bahrami
authors.affiliation: Allergy and Clinical Immunology Department of Rasol-E-Akram Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
authors.forename: Morteza
authors.initials: M
authors.lastname: Fallahpour
authors.affiliation: Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Esmaeilzadeh
authors.affiliation: Allergy and Clinical Immunology Department of Rasol-E-Akram Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
authors.forename: Mahsa
authors.initials: M
authors.lastname: Rekabi
authors.affiliation: Allergy and Clinical Immunology Department of Rasol-E-Akram Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
authors.forename: Javad
authors.initials: J
authors.lastname: Amadian
authors.affiliation: Allergy and Clinical Immunology Department of Rasol-E-Akram Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
authors.forename: Narjes
authors.initials: N
authors.lastname: Eslami
authors.affiliation: Allergy and Clinical Immunology Department of Rasol-E-Akram Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
authors.forename: Sima
authors.initials: S
authors.lastname: Shokri
authors.affiliation: Allergy and Clinical Immunology Department of Rasol-E-Akram Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
authors.forename: Farhad
authors.initials: F
authors.lastname: Jalali
authors.affiliation: Allergy and Clinical Immunology Department of Rasol-E-Akram Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
authors.forename: Nadieh
authors.initials: N
authors.lastname: Akbarpour
authors.affiliation: Allergy and Clinical Immunology Department of Rasol-E-Akram Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran. Electronic address: molatefi.r@tak.iums.ac.ir.
authors.forename: Rasol
authors.initials: R
authors.lastname: Molatefi
authors.affiliation: Molecular Immunology Research Center and Department of Immunology, School of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran; Research Center for Immunodeficiency, Children's Medical Center, TUMS, Tehran, Iran; Universal Scientific Education and Research Network (USERN), Tehran, Iran.
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D015551:Autoimmunity; D002648:Child; D002675:Child, Preschool; D017074:Common Variable Immunodeficiency / Q000453:epidemiology* / Q000235:genetics* / Q000401:mortality; D003241:Consanguinity; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012189:Retrospective Studies; D055815:Young Adult
keywords: Age; Common variable immune deficiency (CVID); Consanguinity; Follow up; Iran