Saba Arshi1, Mohammad Nabavi1, Mohammad Hasan Bemanian1, Ramin Shakeri2, Behrang Taghvaei1, Babak Ghalebaghi3, Delara Babaie4, Ahmad Bahrami1, Morteza Fallahpour1, Hossein Esmaeilzadeh5, Mahsa Rekabi1, Javad Amadian1, Narjes Eslami1, Sima Shokri1, Farhad Jalali1, Nadieh Akbarpour1, Rasol Molatefi6, Nima Rezaei7. 1. Allergy and Clinical Immunology Department of Rasol-E-Akram Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran. 2. Digestive Oncology Research Center, Digestive Disease Research Institute, Tehran University of Medical Sciences (TUMS), Tehran, Iran. 3. 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. 4. Allergy and Clinical Immunology Department of Mofid Hospital, Shaheed Beheshti University of Medical Sciences (SBMU), Tehran, Iran. 5. Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. 6. 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. 7. 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.
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. METHOD: 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.
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 CVIDpatients in the allergy and clinical immunology department of Rasol-E-Akram Hospital of Iran University of Medical Sciences in Tehran. METHOD: We retrospectively reviewed hospital files of CVIDpatients 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 CVIDpatients 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.