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

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)
medulloblastoma
myelodysplastic syndrome (MDS)
prostate cancer
sarcoma
thymoma
thymus, cancer of the
urinary bladder cancer

Non-tumor features

hypogammaglobulinemia
immunodeficiency

Comment

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.

Links

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

References

[1] Penn I. Occurrence of cancer in immune deficiencies. Cancer 1974; 34(3):suppl:858-66.
[2] Gatti RA, Good RA. Occurrence of malignancy in immunodeficiency diseases. A literature review. Cancer 1971; 28(1):89-98.
[3] Kinlen LJ, Webster AD, Bird AG, Haile R, Peto J, Soothill JF, Thompson RA. Prospective study of cancer in patients with hypogammaglobulinaemia. Lancet 1985; 1(8423):263-266.
[4] Cunningham-Rundles C, Lieberman P, Hellman G, Chaganti RSK. Non-Hodgkin lymphoma in common variable immunodeficiency. Am J Hematol 1991; 37(2):69-74.
[5] Fesus SM, Hagemeister FB, Manning J. Hodgkin disease in a patient with common variable immunodeficiency. Am J Hematol 1989; 32(2):138-142.
[6] Sander CA, Medeiros LJ, Weiss LM, Yano T, Sneller MC, Jaffe ES. Lymphoproliferative lesions in patients with common variable immunodeficiency syndrome. Am J Surg Pathol 1992; 16(12):1170-1182.
[7] Gonzalez-Vitale JC, Gomez LG, Goldblum RM, Goldman AS, Patterson M. Immunoblastic lymphoma of small intestine complicating late- onset immunodeficiency. Cancer 1982; 49(3):445-449.
[8] Elenitoba-Johnson KS, Jaffe ES. Lymphoproliferative disorders associated with congenital immunodeficiencies. Semin Diagn Pathol 1997; 14(1):35-47.
[9] Hayakawa H, Kobayashi N, Yata J. Primary immunodeficiency diseases and malignancy in Japan. Jpn J Cancer Res 1986; 77(1):74-79.
[10] Ryser O, Morell A, Hitzig WH. Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children. J Clin Immunol 1988; 8(6):479-485.
[11] Kersey JH, Spector BD, Good RA. Primary immunodeficiency and malignancy. Birth Defects Orig Artic Ser 1975; 11(1):289-298.
[12] Spector BD, Perry GS, Kersey JH. Genetically determined immunodeficiency diseases (GDID) and malignancy: report from the immunodefciency-cancer registry. Clin Immunol Immunopathol 1978; 11:12-29.
[13] Vorechovsky I, Litzman J, Lokaj J, Hausner P, Poch T. Common variable immunodeficiency and malignancy: a report of two cases and possible explanation for the association. Cancer Immunol Immunother 1990; 31(4):250-254.
[14] Cunningham-Rundles C. Clinical and immunologic analyses of 103 patients with common variable immunodeficiency. J Clin Immunol 1989; 9(1):22-33.
[15] Jensen MK, Koch-Henriksen N, Johansen P, Varming K, Christiansen CB, Knudsen F. EBV-positive primary central nervous system lymphomas in monozygote twins with common variable immunodeficiency and suspected multiple sclerosis. Leuk Lymphoma 1997; 28(1-2):187-193.
[16] Hermaszewski RA, Webster ADB. Primary hypogammaglobulinaemia: a survey of clinical manifestations and complications. QJM 1993; 86:31-42.
[17] Lamers CBHW, Jansen JBMJ. Hypogammaglobulinaemia and gastric cancer. Lancet 1985; 11:1100-1101.
[18] Cunningham Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999; 92(1):34-48.
[19] Aghamohammadi A, Rezaei N, Gharagozlou M, Ramyar A, Mahjoub F, Rezaei-Kalantari K, Moin M. Hodgkin lymphoma in two siblings with common variable immunodeficiency. Pediatric hematology and oncology 2007 Jul-Aug; 24(5):337-42.
[20] Ogershok PR, Hogan MB, Welch JE, Corder WT, Wilson NW. Spectrum of illness in pediatric common variable immunodeficiency. Annals of allergy, asthma & immunology 2006; 97(5):653-6.
[21] Mohammed I. Early onset of prostate cancer in a patient with common variable immunodeficiency. Clinical oncology (Royal College of Radiologists (Great Britain)) 2004; 16(7):502.
[22] Varan A, Büyükpamukçu M, Ersoy F, Sanal O, Akyüz C, Kutluk T, Yalçin B. Malignant solid tumors associated with congenital immunodeficiency disorders. Pediatric hematology and oncology 2004 Jul-Aug; 21(5):441-51.
[23] Mehta AC, Faber-Langendoen K, Duggan DB. Common variable immunodeficiency and breast cancer. Cancer investigation 2004; 22(1):93-6.
[24] Mellemkjaer L, Hammarstrom L, Andersen V, Yuen J, Heilmann C, Barington T, Bjorkander J, Olsen JH. Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study. Clinical and experimental immunology 2002; 130(3):495-500.