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Minority of <jats:styled-content style=\"fixed-case\">CVID<\/jats:styled-content> patients present a familial aggregation suggesting a higher probability of heritable genetic defects. A total of 235 registered <jats:styled-content style=\"fixed-case\">CVID<\/jats:styled-content> patients were evaluated in this cohort study. Familial and sporadic patients were stratified, and demographic information, clinical records, laboratory and molecular data were compared among these two groups of patients. Multiple cases were identified in 12 families (30 patients) and sporadic presentation in 120 cases. The rate of parental consanguinity (83.3%) and clinical presentation of lymphoid malignancy (20.7%) were predominant in familial <jats:styled-content style=\"fixed-case\">CVID<\/jats:styled-content> patients, whereas significantly increased recurrent upper respiratory infections were recorded in sporadic patients (0.3 infections per year). Probands of familial group were presented with a higher severity score resulting in a profound mortality rate (41.7% after 30\u2010year follow\u2010up) comparing to the non\u2010proband <jats:styled-content style=\"fixed-case\">CVID<\/jats:styled-content> patients in the same families with a lowered diagnostic delay. Familial <jats:styled-content style=\"fixed-case\">CVID<\/jats:styled-content> patients had a specific signature in clinical presentation and immunologic profile, and a high consanguinity in this group of patients suggests a Mendelian trait with an autosomal recessive inheritance pattern. Diagnosis of an index patient within a multiple case families significantly improves the diagnostic process and outcomes of the yet asymptomatic patients.<\/jats:p>","DOI":"10.1111\/sji.12593","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T14:26:39Z","timestamp":1502461599000},"page":"239-247","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A Comparison of Clinical and Immunologic Phenotypes in Familial and Sporadic Forms of Common Variable Immunodeficiency"],"prefix":"10.1111","volume":"86","author":[{"given":"A.","family":"Valizadeh","sequence":"first","affiliation":[{"name":"Research Center for Immunodeficiencies Pediatrics Center of Excellence Children's Medical Center Tehran University of Medical Science Tehran 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