Severe combined immune deficiency in an adenosine deaminase-deficient patient

Allergy and Asthma Proceedings

Volumn 27, Issue 2, 2006, Pages 172-174

  Özdemir, Öner ^a  

^a LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE;

ARTICLE; CASE REPORT; COMBINED IMMUNODEFICIENCY; DIFFERENTIAL DIAGNOSIS; FEMALE; HUMAN; INFANT;

ADENOSINE DEAMINASE; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 33646488845     PISSN: 10885412     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol 22:625-655, 2004.
2. Arrendondo-Vega FX, Santisteban I, Notarangelo LD, et al. Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online Hum Mutat 11:482, 1998.
3. Hershfield MS. Adenosine deaminase deficiency: Clinical expression, molecular basis, and therapy. Semin Hematol 35:291-298, 1998.
4. Hershfield MS, Chaffee S, and Sorensen RU. Enzyme replacement therapy with polyethylene glycol-adenosine deaminase in adenosine deaminase deficiency: Overview and case reports of three patients, including two now receiving gene therapy. Pediatr Res 33(suppl 1):S42-S47, 1993.
5. Lainka E, Hershfield MS, Santisteban I, et al. Polyethylene glycol-conjugated adenosine deaminase (ADA) therapy provides temporary immune reconstitution to a child with delayed-onset ADA deficiency. Clin Diagn Lab Immunol 12(7): 861-866, 2005.
6. Notarangelo LD, Stoppoloni G, Toraldo R, et al. Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiency. Eur J Pediatr 151:811-814, 1992.
7. Aiuti A, Slavin S, Aker M, et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296:2410-2413, 2002.
8. Chinen J, and Puck JM. Perspectives of gene therapy for primary immunodeficiencies. Curr Opin Allergy Clin Immunol 4:523-527, 2004.
9. Kaufman DA, Hershfield MS, Bocchini JA, et al. Cerebral lymphoma in an adenosine deaminase-deficient patient with severe combined immunodeficiency receiving polyethylene glycol-conjugated adenosine deaminase. Pediatrics 116:e876-e879, 2005.