Late-onset adenosine deaminase deficiency presenting with Heck's disease

European Journal of Pediatrics

Volumn 169, Issue 8, 2010, Pages 1033-1036

  Artac, Hasibe ^a   Göktürk, Bahar ^a   Bozdemir, Sefika Elmas ^a   Toy, Hatice ^a   Van Der Burg, Mirjam ^b   Santisteban, Ines ^c   Hershfield, Michael ^c   Reisli, Ismail ^a  

^a SELCUK UNIVERSITY   (Turkey)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Focal epithelial hyperplasia; Human papilloma virus; Late onset adenosine deaminase deficiency

Indexed keywords

IMMUNOGLOBULIN G;

ADENOSINE DEAMINASE DEFICIENCY; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CLINICAL LABORATORY; COMMON VARIABLE IMMUNODEFICIENCY; DISEASE ASSOCIATION; FEMALE; FLOW CYTOMETRY; FOCAL EPITHELIUM HYPERPLASIA; FOLLOW UP; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; MOUTH MUCOSA; ONSET AGE; OUTCOME ASSESSMENT; PRIORITY JOURNAL; RARE DISEASE; SCHOOL CHILD; SEVERE COMBINED IMMUNODEFICIENCY; TREATMENT OUTCOME; WART VIRUS;

ADENOSINE DEAMINASE; AGE FACTORS; AGE OF ONSET; CHILD; DIAGNOSIS, DIFFERENTIAL; FEMALE; FOCAL EPITHELIAL HYPERPLASIA; HUMANS;

EID: 77954426033     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-009-1131-9     Document Type: Article

References (18)

1. FC Antony AD Webster MD Bain CC Harland 2002 Recalcitrant palmoplantar warts associated with adult-onset adenosine deaminase deficiency Br J Dermatol 147 182 183 10.1046/j.1365-2133.2002.47562.x 1:STN:280:DC%2BD38vgtlWitw%3D%3D 12100213
2. HO Archard JW Heck HR Stanley 1965 Focal epithelial hyperplasia: an unusual oral mucosal lesion found in Indian children Oral Surg Oral Med Oral Pathol 20 201 212 10.1016/0030-4220(65)90192-1 1:STN:280:DyaF2M7islaruw%3D%3D 14322615
3. FX Arredondo-Vega I Santisteban S Daniels, et al. 1998 Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles Am J Hum Genet 63 1049 1059 10.1086/302054 1:CAS:528:DyaK1cXntlCkurk%3D 9758612 (Pubitemid 30418574)
4. FX Arredondo-Vega I Santisteban E Richard, et al. 2002 Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy Blood 99 1005 1013 10.1182/blood.V99.3.1005 1:CAS:528:DC%2BD38XhtValtrY%3D 11807006 (Pubitemid 34525565)
5. O Aynaud D Piron R Barrasso JD Poveda 1998 Comparison of clinical, histological, and virological symptoms of HPV in HIV-1 infected men and immunocompetent subjects Sex Transm Infect 74 32 34 10.1136/sti.74.1.32 1:STN:280:DyaK1c3ns1Gmsw%3D%3D 9634298
6. A Fleischman MS Hershfield S Toutain, et al. 1998 Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency Clin Diagn Lab Immunol 5 399 400 1:STN:280:DyaK1c3mslSgtg%3D%3D 9605997
7. MS Hershfield 1998 Adenosine deaminase deficiency: clinical expression, molecular basis, and therapy Semin Hematol 35 291 298 1:CAS:528: DyaK1cXntFSgu7s%3D 9801258
8. Hirschhorn R, Candotti F (2007) Immunodeficiency due to defects of purine metabolism. In: Ochs HD, Smith CIE, Puck JM (eds) Primary Immunodeficiency diseases, a molecular and genetic approach, 2nd edn. Oxford University Pres, New York, pp 169-196
9. Y Levy MS Hershfield C Fernandez-Mejya, et al. 1988 Adenosine deaminase deficiency with late onset of recurrent infections: response to treatment with polyethylene glycol-modified adenosine deaminase J Pediatr 113 312 317 10.1016/S0022-3476(88)80271-3 1:STN:280:DyaL1c3os1alsg%3D%3D 3260944
10. E Marvan N Firth 1998 Focal epithelial hyperplasia in an HIV positive man. An illustrated case and review of the literature Aust Dent J 43 305 310 10.1111/j.1834-7819.1998.tb00178.x 1:STN:280:DyaK1M%2FmsFyhtQ%3D%3D 9848979
11. BL Mealey WW Hallmon TC Waldrop 1993 Occurrence and resolution of focal epithelial hyperplasia in two siblings with leukocyte adhesion deficiency J Periodontol 64 149 152 1:STN:280:DyaK3s7msVSnsw%3D%3D 8433256
12. G Morgan RJ Levinsky K Hugh-Jones, et al. 1987 Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency Clin Exp Immunol 70 491 499 1:STN:280:DyaL1c7js1aqtA%3D%3D 3436096
13. H Ozsahin FX Arrendo-Vega I Santisteban, et al. 1997 Adenosine deaminase deficiency in adults Blood 89 2849 2855 1:CAS:528:DyaK2sXisFChsrk%3D 9108404
14. R Segura-Saint-Gerons M Toro-Rojas A Ceballos-Salobrena, et al. 2005 Focal epithelial hyperplasia. A rare disease in our area Med Oral Patol Oral Cir Bucal 10 128 131 15735545
15. CL Shovlin JM Hughes HA Simmonds, et al. 1993 Adult presentation of adenosine deaminase deficiency Lancet 341 1471 10.1016/0140-6736(93)90910-9 1:STN:280:DyaK3s3nsFSrtw%3D%3D 8099155 (Pubitemid 23161466)
16. M van der Burg LR van Veelen NS Verkaik, et al. 2006 A new type of radiosensitive T-B-NK+severe combined immunodeficiency caused by a LIG4 mutation J Clin Invest 116 137 145 10.1172/JCI26121 16357942 (Pubitemid 43121798)
17. R Viraben C Aquilina P Brousset J Bazex 1996 Focal epithelial hyperplasia (Heck disease) associated with AIDS Dermatology 193 261 262 10.1159/000246261 1:STN:280:DyaK2s%2FpvFOrtA%3D%3D 8944355
18. OM Williams KW Hart EC Wang CM Gelder 2002 Analysis of CD4(+) T-cell responses to human papillomavirus (HPV) type 11 L1 in healthy adults reveals a high degree of responsiveness and cross-reactivity with other HPV types J Virol 76 7418 7429 10.1128/JVI.76.15.7418-7429.2002 1:CAS:528:DC%2BD38XltlKru78%3D 12097554 (Pubitemid 34760964)