Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency

Journal of Clinical Immunology

Volumn 32, Issue 3, 2012, Pages 449-453

  Booth, C ^a,b   Algar, V E ^b   Xu Bayford, J ^b   Fairbanks, L ^c   Owens, C ^b   Gaspar, H B ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

adenosine deaminase; enzyme replacement; haematopoeitic stem cell transplant; SCID

Indexed keywords

DEOXYADENOSINE TRIPHOSPHATE;

ADENOSINE DEAMINASE DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY; ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; COMBINED IMMUNODEFICIENCY; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; FEMALE; HUMAN; HUMAN TISSUE; INFANT; LEUKOCYTE DIFFERENTIAL COUNT; LUNG BIOPSY; LUNG DISEASE; LUNG INFECTION; LUNG LAVAGE; MALE; NASOPHARYNGEAL ASPIRATION; NEWBORN; PARAINFLUENZA VIRUS; PNEUMOCYSTIS JIROVECI; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY SYNCYTIAL PNEUMOVIRUS; RESPIRATORY TRACT DISEASE; SYMPTOM; THORAX RADIOGRAPHY; X LINKED SEVERE COMBINED IMMUNODEFICIENCY;

ADENOSINE DEAMINASE; AGAMMAGLOBULINEMIA; BRONCHOALVEOLAR LAVAGE; CHILD, PRESCHOOL; ENZYME REPLACEMENT THERAPY; FEMALE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; INFANT; INFANT, NEWBORN; LUNG DISEASES; MALE; SEVERE COMBINED IMMUNODEFICIENCY; TOMOGRAPHY, X-RAY COMPUTED; X-LINKED COMBINED IMMUNODEFICIENCY DISEASES;

EID: 84861482319     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-012-9658-3     Document Type: Article

References (14)

1. Gaspar HB. Bone marrow transplantation and alternatives for adenosine deaminase deficiency. Immunol Allergy Clin North Am. 2010;30:221-36.
2. Hirschhorn R. Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency. Pediatr Res. 1993;33:S35-41. (Pubitemid 23091200)
3. Hershfield MS. PEG-ADA replacement therapy for adenosine deaminase deficiency: an update after 8.5 years. Clin Immunol Immunopathol. 1995;76:S228-32.
4. Booth C, Hershfield M, Notarangelo L, et al. Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). Clin Immunol. 2007;123:139-47. (Pubitemid 46590067)
5. Aiuti A, Cattaneo F, Galimberti S, et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med. 2009;360:447-58.
6. Hirschhorn R, Paageorgiou PS, Kesarwala HH, Taft LT. Amerioration of neurologic abnormalities after "enzyme replacement" in adenosine deaminase deficiency. N Engl J Med. 1980;303:377-80. (Pubitemid 10035065)
7. Albuquerque W, Gaspar HB. Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency. J Pediatr. 2004;144:278-80. (Pubitemid 38869409)
8. Cederbaum SD, Kaitila I, Rimoin DL, Stiehm ER. The chondroosseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency. J Pediatr. 1976;89:737-42.
9. Bollinger ME, Rredondo-Vega FX, Santisteban I, et al. Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. N Engl J Med. 1996;334:1367-71. (Pubitemid 26152716)
10. Ratech H, Greco MA, Gallo G, et al. Pathologic findings in adenosine deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations. Am J Pathol. 1985;120:157-69. (Pubitemid 15037983)
11. Rogers MH, Lwin R, Fairbanks L, Gerritsen B, Gaspar HB. Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency. J Pediatr. 2001;139:44-50. (Pubitemid 32613986)
12. Wakamiya M, Blackburn MR, Jurecic R, et al. Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice. Proc Natl Acad Sci U S A. 1995;92:3673-7.
13. Blackburn MR, Volmer JB, Thrasher JL, et al. Metabolic consequences of adenosine deaminase deficiency in mice are associated with defects in alveogenesis, pulmonary inflammation, and airway obstruction. J Exp Med. 2000;192:159-70. (Pubitemid 30470299)
14. Somech R, Lai YH, Grunebaum E, Le SN, Cutz E, Roifman CM. Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency [Letter]. J Allergy Clin Immunol. 2009;124:848-50.