Paucity of genotype'phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES)

Clinical Immunology

Volumn 139, Issue 1, 2011, Pages 75-84

  Heimall, Jennifer ^a   Davis, Joie ^a   Shaw, Pamela A ^a   Hsu, Amy P ^a   Gu, Wenjuan ^b   Welch, Pam ^b   Holland, Steven M ^a   Freeman, Alexandra F ^a  

^a NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^b SAIC FREDERICK INC   (United States)

Author keywords

Autosomal dominant hyper IgE syndrome(AD HIES); Genotype'phenotype; Job's syndrome; STAT 3

Indexed keywords

PROTEIN SH2; STAT3 PROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN DISEASE; CHILD; CORONARY ARTERY ANOMALY; DNA BINDING; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; HYPER IMMUNOGLOBULIN E SYNDROME; IMMUNE DEFICIENCY; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MORTALITY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SCOLIOSIS; SCORING SYSTEM; UPPER RESPIRATORY TRACT INFECTION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; JOB'S SYNDROME; MALE; MUTATION; PROTEIN STRUCTURE, TERTIARY; STAT3 TRANSCRIPTION FACTOR;

EID: 79953028378     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2011.01.001     Document Type: Article

References (16)

1. Davis S.D., Wedgwood R.J. Job's syndrome: recurrent, 'cold', staphylococcal abscesses. Lancet 1966, 1:1013-1015.
2. Buckley R.H., Wray B.B., Belmaker E.Z. Extreme hyperimmunologlobulinemia E and undue susceptibility to infection. Pediatrics 1972, 49:59-70.
3. Buckley R.H. The Hyper-IgE syndrome. Clin. Rev. Allergy Immunol. 2001, 20:139-154.
4. Domingo D., Freeman A.F., Davis J., et al. Novel intraoral phenotypes in hyper Immunoglobulin E syndrome. Oral Dis. 2007, 1-9.
5. O'Connell A.C., Puck J.M., Grimbacher B., et al. Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome. Oral Surg. Oral Med. Oral Pathol. Oral Radiol. Endod. 2000, 89:177-185.
6. Ling J.C., Freeman A.F., Gharib A.M., et al. Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome. Clin. Immunol. 2007, 122:255-258.
7. Young T.Y., Jerome D., Gupta S. Hyperimmunoglobulinemia E syndrome associated with coronary artery aneurysms: deficiency of central memory CD4+ T cells and expansion of effector memory CD4+ T cells. Ann. Allergy Asthma Immunol. 2007, 98:389-392.
8. Freeman A.F., Collura-Burke C.J., Patronas N.J., et al. Brain abnormalities in patients with hyperimmunoglobulin E syndrome. Pediatrics 2007, 119:e1121-e1125.
9. Hoger P.H., Boltshauser E., Hitzig W.H. Craniosynostosis in hyper-IgE syndrome. Eur. J. Pediatr. 1985, 144:414-417.
10. Smithwick E.M., Finelt M., Pahwa S., et al. Cranial synostosis in Job's syndrome. Lancet 1978, 15:826.
11. Grimbacher B., Holland S.M., Gallin J.I., et al. Hyper-IgE syndrome with recurrent infections-an autosomal dominant multisystem disorder. N. Engl. J. Med. 1999, 340:692-702.
12. Holland S., DeLeo F., Elloumi H., et al. 'STAT3 mutations in the hyper-IgE syndrome'. NEJM 2007, 357.
13. Minegishi y, Saito M., Tsuchiya S. Dominant negative mutations in the DNA binding domain of STAT3 cause hyper-IgE syndrome. Nature 2007, 448:1058-1062.
14. Renner E., Rylaarsdam S., Anover-Sombke S., et al. Novel signal transducer and activator of transcription 3 mutations, reduced Th17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. JACI 2008, 122:181-187.
15. Liu L., McBride K., Reich N. STAT3 nuclear import is independent of tyrosine phosphorylation and mediated by importin-a3. PNAS 2005, 102(23):8150-8155.
16. Woellner C., Gertz M., Schaffer A., et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. JACI 2010, 125:424-432.