FaCD Online Syndrome Fact Sheet

Last updated: 23 Jun 2008

Name: Severe Combined Immunodeficiency, X-linked

Synonym: Agammaglobulinemia, Swiss Type

Mode of Inheritance: XLR

Genes

IL2RG, mapped to Xq13.1

Tumor features

Hodgkin disease (Hodgkin's lymphoma)
leukemia, acute
non-Hodgkin lymphoma

Non-tumor features

agammaglobulinemia
immunodeficiency

Comment

This disorder develops early in childhood and is characterized by defects in both humoral and cellular immune response. Lymphoid tissue (tonsils, lymph nodes, thymus) is absent or hypoplastic. There is an incidence of approximately 5 % of malignancies in this disorder, all involving the hematopoietic-lymphoid system, predominantly NHL.[1-6]

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] Tran H, Nourse J, Hall S, Green M, Griffiths L, Gandhi MK. Immunodeficiency-associated lymphomas. Blood reviews 2008; .
[4] Salavoura K, Kolialexi A, Tsangaris G, Mavrou A. Development of cancer in patients with primary immunodeficiencies. Anticancer research 2008 Mar-Apr; 28(2B):1263-9.
[5] Trahair TN, Wainstein B, Manton N, Bourne AJ, Ziegler JB, Rice M, Russell SJ. Rituximab for lymphoproliferative disease prior to haematopoietic stem cell transplantation for X-linked severe combined immunodeficiency. Pediatric blood & cancer 2008; 50(2):366-9.
[6] Oertel SH, Riess H. Immunosurveillance, immunodeficiency and lymphoproliferations. Recent results in cancer research. Fortschritte der Krebsforschung. Progrès dans les recherches sur le cancer 2002; 159():1-8.