Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis

Journal of Allergy and Clinical Immunology

Volumn 130, Issue 4, 2012, Pages 991-994

  Speckmann, Carsten ^a   Neumann, Carla ^b   Borte, Stephan ^c,d   Marca, Giancarlo La ^e,f   Sass, J̈orn Oliver ^a   Wiech, Elisabeth ^a   Fisch, Paul ^a   Schwarz, Klaus ^a,g   Buchholz, Bernd ^h   Schlesier, Michael ^a   Felgentreff, Kerstin ^a   Grimbacher, Bodo ^a   Santisteban, Ines ⁱ   Bali, Pawan ⁱ   Hershfield, Michael S ⁱ   Ehl, Stephan ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c Klinikum St Georg   (Germany)

^d UNIVERSITY OF LEIPZIG   (Germany)

^e UNIVERSITY OF FLORENCE   (Italy)

^f UNIVERSITY OF FLORENCE   (Italy)

^g UNIVERSITY HOSPITAL ULM   (Germany)

^h UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

ⁱ DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; CD19 ANTIGEN; COMPLEMENTARY DNA; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; MACROGOL; NEUTRALIZING ANTIBODY; PNEUMOCOCCUS VACCINE; VALINE;

ADENOSINE DEAMINASE DEFICIENCY; CD3+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CELL PROLIFERATION; CHRONIC DISEASE; COMPUTER ASSISTED TOMOGRAPHY; COUGHING; DISEASE COURSE; EARLY DIAGNOSIS; ENZYME ACTIVITY; ENZYME REPLACEMENT; FOLLOW UP; GENE DUPLICATION; GENE FREQUENCY; HUMAN; IMMUNE DYSREGULATION; IMMUNE RESPONSE; IMMUNOGLOBULIN BLOOD LEVEL; INTRODUCED SPECIES; LETTER; LYMPHOCYTOPENIA; MISSENSE MUTATION; NATURAL KILLER CELL; NEWBORN SCREENING; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEVERE COMBINED IMMUNODEFICIENCY; TREATMENT DURATION;

EID: 84869138923     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2012.04.004     Document Type: Article

References (12)

1. Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS. Adenosine deaminase deficiency: Genotype-phenotype correlations based on expressed activity of 29 mutant alleles. Am J Hum Genet 1998;63:1049-59.
2. Felgentreff K, Perez-Becker R, Speckmann C, Schwarz K, Kalwak K, Markelj G, et al. Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. Clin Immunol 2011;141:73-82.
3. Arredondo-Vega FX, Santisteban I, Richard E, Bali P, Koleilat M, Loubser M, et al. Adenosine deaminase deficiency with mosaicism for a ''second-site suppressor'' of a splicing mutation: Decline in revertant T lymphocytes during enzyme replacement therapy. Blood 2002;99:1005-13.
4. Somech R, Lai Y, Grunebaum E, Le Saux N, Cutz E, Roifman C. Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency. J Allergy Clin Immunol 2009;124: 848-50.
5. Ozsahin H, Arredondo-Vega FX, Santisteban I, Fuhrer H, Tuchschmid P, Jochum W, et al. Adenosine deaminase deficiency in adults. Blood 1997;89:2849-55.
6. Shovlin CL, Simmonds HA, Fairbanks LD, Deacock SJ, Hughes JM, Lechler RI, et al. Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency. J Immunol (Baltimore, Md: 1950) 1994;153:2331-9.
7. Gaspar HB, Aiuti A, Porta F, Candotti F, Hershfield MS, Notarangelo LD. How I treat ADA deficiency. Blood 2009;114:3524-32.
8. Lainka E, Hershfield MS, Santisteban I, Bali P, Seibt A, Neubert J, 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 2005;12:861-6.
9. Chaffee S, Mary A, Stiehm ER, Girault D, Fischer A, Hershfield MS. IgG antibody response to polyethylene glycol-modified adenosine deaminase in patients with adenosine deaminase deficiency. J Clin Invest 1992;89:1643-51.
10. Lipstein EA, Vorono S, Browning MF, Green NS, Kemper AR, Knapp AA, et al. Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency. Pediatrics 2010;125:e1226-35.
11. Borte S, von Dobeln U, Fasth A, Wang N, Janzi M, Winiarski J, et al. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood 2012;119:2552-5.
12. Azzari C, la Marca G, Resti M. Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: A reliable and inexpensive method using tandem mass spectrometry. J Allergy Clin Immunol 2011;127: 1394-9.