FaCD Online Syndrome Fact Sheet

Last updated: 14 Feb 2008

Name: Common Variable Immunodeficiency

Synonym: Common Variable Hypogammaglobulinemia, Late-onset Immunoglobulin Deficiency

Mode of Inheritance: AR/ AD?/ XL?/ spor

OMIM number: 240500  

Tumor features

gastric cancer
Hodgkin disease (Hodgkin's lymphoma)
leukemia, chronic lymphocytic (CLL)
non-Hodgkin lymphoma

Tumor features (possible)

breast cancer
cervical cancer
colorectal cancer
histiocytosis (reticuloendotheliosis), malignant
leukemia, acute lymphoblastic (ALL)
myelodysplastic syndrome (MDS)
prostate cancer
thymus, cancer of the
urinary bladder cancer

Non-tumor features



This heterogeneous group of adult-onset immunodeficiency is characterized by the failure of B-cells to differentiate and produce immunoglobulins. Approximately 10 % of patients with this disorder develop a malignancy, mainly of the hemato-lymphoproliferative type. Non-Hodgkin lymphomas (mainly B-cell) are found in 1-7 % of CVID patients, far more frequently in female than in male patients. They occur most frequently in the 5th-7th decade. Of the other associated tumors, gastric cancer is the most frequent. A range of other tumors have been reported as well: Hodgkin lymphoma, lung cancer, colon, early onset breast cancer, bladder and cervical cancer, malignant reticulocytosis/reticulum cell sarcoma, CLL, ALL, liposarcoma, thymoma, thymus cancer, osteosarcoma, early-onset prostate cancer and medulloblastoma[1-23]. Cancer risk in asymptomatic relatives of CVID patients is not increased[24.
Most cases are sporadic, however, various familial cases suggestive of AR, AD and XL inheritance have been observed.


International Patient Organisation for Primary Immunodeficiencies (IPOPI) 18 1 08
Introduction to Primary Immunodeficiencies (dr Vihinen) 18 1 08


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