FaCD Online Syndrome Fact Sheet

Last updated: 25 Oct 2011

Name: Adenosine Deaminase Deficiency

Synonym: Severe Combined Immunodeficiency (SCID) due to ADA-deficiency

Mode of Inheritance: AR

OMIM number: 102700  


ADA, mapped to 20q13.11

Tumor features

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

Non-tumor features

adenosine deaminase deficiency
skeletal dysplasia


A substantial percentage of (apparently) autosomal recessive severe combined immunodeficiency is caused by deficiency of adenosine deaminase. Dysplastic skeletal changes (typically of costochondral junctions) occur frequently in patients with ADA deficiency. Most cases are diagnosed in the first year.[1]. As in other types of severe combined immune deficiency, there is an increase risk to develop malignancies of the hemato-lymphoproliferative type[2-5]. There appears to be no increased cancer risk for heterozygotes of the mutant gene[6].


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


[1] Hershfield MS. Adenosine deaminase deficiency: Clinical expression, molecular basis, and therapy. Semin.Hematol. 35[4], 291-298. 1998.
[2] Filipovich AH, Spector BD, Kersey J. Immunodeficiency in humans as a risk factor in the development of malignancy. Prev Med 1980; 9:252-259.
[3] Gatti RA, Good RA. Occurrence of malignancy in immunodeficiency diseases. A literature review. Cancer 1971; 28(1):89-98.
[4] Husain M, Grunebaum E, Naqvi A, Atkinson A, Ngan BY, Aiuti A, Roifman CM. Burkitt's lymphoma in a patient with adenosine deaminase deficiency-severe combined immunodeficiency treated with polyethylene glycol-adenosine deaminase. The Journal of pediatrics 2007; 151(1):93-5.
[5] Kaufman DA, Hershfield MS, Bocchini JA, Moissidis IJ, Jeroudi M, Bahna SL. Cerebral lymphoma in an adenosine deaminase-deficient patient with severe combined immunodeficiency receiving polyethylene glycol-conjugated adenosine deaminase. Pediatrics 2005; 116(6):e876-9.
[6] Morell D, Chase CL, Swift M. Cancer in families with severe combined immune deficiency. JNCI 1987; 78:455-458.