Destructive pulmonary staphylococcal infection in a boy with hyper-IgE syndrome: A novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene (p.Y657S)

European Journal of Pediatrics

Volumn 170, Issue 5, 2011, Pages 661-666

  Liu, Jin Yan ^a   Li, Qiang ^a   Chen, Ting Ting ^a   Guo, Xia ^a   Ge, Jiao ^a   Yuan, Li Xing ^a  

^a SICHUAN UNIVERSITY   (China)

Author keywords

Hyper IgE syndrome; Liver abscess; Pneumatocele; Staphylococcal infection; The signal transducer and activator of transcription 3(STAT3)

Indexed keywords

ANTIBIOTIC AGENT; CEFEPIME; IMMUNOGLOBULIN M; STAT3 PROTEIN; VANCOMYCIN;

ABDOMINAL PAIN; ABSCESS DRAINAGE; AMINO ACID SUBSTITUTION; ANTIBIOTIC THERAPY; ARTICLE; BACTERIAL PNEUMONIA; BACTERIAL SKIN DISEASE; CASE REPORT; CHILD; CHILDHOOD DISEASE; CHINESE; COMPUTER ASSISTED TOMOGRAPHY; COUGHING; ECZEMA; EXON; FEVER; FURUNCULOSIS; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPER IGE SYNDROME; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOPATHOGENESIS; LIVER ABSCESS; LUNG ABSCESS; LUNG INFECTION; MALE; MUTATIONAL ANALYSIS; PNEUMATOCELE; PNEUMOTHORAX; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOMONAS AERUGINOSA; PYOPNEUMOTHORAX; SEPSIS; SKIN ABSCESS; SKIN INCISION; STAPHYLOCOCCUS AUREUS; STAPHYLOCOCCUS INFECTION; SURGICAL DRAINAGE; TACHYPNEA; THORAX DRAINAGE; THORAX RADIOGRAPHY;

CHILD, PRESCHOOL; DISEASES IN TWINS; DNA MUTATIONAL ANALYSIS; HETEROZYGOTE; HUMANS; JOB'S SYNDROME; LUNG DISEASES; MALE; POINT MUTATION; STAPHYLOCOCCAL INFECTIONS; STAT3 TRANSCRIPTION FACTOR; TWINS, DIZYGOTIC;

EID: 79955572359     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-010-1349-6     Document Type: Article

References (21)

1. Buckley RH, Wray BB, Belmaker EZ (1972) Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics 49:59-70
2. Davis SD, Schaller J, Wedgwood RJ (1966) Job's syndrome. Recurrent, "cold", staphylococcal abscesses. Lancet 1:1013-1015
3. Engelhardt KR, McGhee S, Winkler S et al (2009) Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. Allergy Clin Immunol 124:1289-1302. e4
4. Fanconi S, Seger RA, Willi U et al (1984) Oral chloramphenicol therapy for multiple liver abscesses in hyperimmunoglobulinemia E syndrome. Eur J Pediatr 142:292-295
5. Grimbacher B, Schäffer AA, Holland SM et al (1999) Genetic linkage of hyper-IgE syndrome to chrosome 4. Am J Hum Genet 65:735-744 (Pubitemid 30468718)
6. Holland SM, DeLeo FR, Elloumi HZ et al (2007) STAT3 mutations in the hyper-IgE syndrome. N Engl J Med 357:1608-1619 (Pubitemid 47598403)
7. Jiao H, Tóth B, Erdos M et al (2008) Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. Mol Immunol 46:202-206
8. Milner JD, Brenchley JM, Laurence A et al (2008) Impaired T(H) 17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature 452:773-776 (Pubitemid 351521078)
9. Minegishi Y, Karasuyama H (2007) Hyperimmunoglobulin E syndrome and tyrosine kinase 2 deficiency. Curr Opin Allergy Clin Immunol 7:506-509 (Pubitemid 350076445)
10. Minegishi Y, Saito M, Tsuchiya S et al (2007) Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 448:1058-1062 (Pubitemid 47345590)
11. Minegishi Y (2009) Hyper-IgE syndrome. Curr Opin Immunol 21:487-492
12. Minegishi Y, Saito M, Nagasawa M et al (2009) Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome. J Exp Med 206:1291-1301
13. Renner ED, Puck JM, Holland SM et al (2004) Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr 144:93-99 (Pubitemid 38091428)
14. Renner ED, Rylaarsdam S, Anover-Sombke S et al (2008) Novel signal transducer and activator of transcription 3(STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J Allergy Clin Immunol 122(1):181-187 (Pubitemid 351899074)
15. Roy AD, Mcllrath EM, Mawhinney H (1982) Multiple liver abscesses in a patient with hyper IgE syndrome. J R Coll Surg Edinb 27:224-227 (Pubitemid 13247752)
16. Sass V, Schneider T, Wilmes M et al (2010) Human beta-defensin 3 inhibits cell wall biosynthesis in Staphylococci. Infect immune 78:2793-2800
17. Tangye SG, Cook MC, Fulcher DA (2009) Insight into the role of STAT3 in human lymphocyte differentiation as revealed by the hyper-IgE syndrome. J Immunol 182:21-28
18. Winkelstein JA, Marino MC, Johnston RB Jr et al (2000) Chronic granulomatous disease. Report on a national registry of 368 patients. Med Baltim 79:155-169
19. Woellner C, Gertz EM, Schäffer AA et al (2010) Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol 125:424-432.e8
20. Xu X, Kasembeli MM, Jiang X et al (2009) Chemical probes that competitively and selectively inhibit STAT3 activation. PLoS ONE 4:e4783
21. Zhang Q, Davis JC, Lamborn IT et al (2009) Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med 361:2046-2055