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The Indian Journal of Pediatrics

, Volume 85, Issue 7, pp 595–596 | Cite as

Rapid Transition of Facial Features from Early to Mid - Adolescence in Autosomal Dominant Hyper IgE Syndrome with a STAT3 Variation

  • Geeta MG
  • A. Riyaz
  • C. Krishnan
  • Vinod Scaria
Scientific Letter
  • 81 Downloads

Notes

Acknowledgements

We thank all the staff members of the department of pediatrics at Govt. Medical College, Kozhikode and CSIR IGIB for help in data collection and genetic analysis.

Contributions

GMG designed the study and collected the data. VS did the whole exome sequencing and helped in writing the paper. AR and CK helped in diagnosis and management of the case. GMG will act as guarantor for this paper.

Compliance with Ethical Standards

Conflict of Interest

None.

Source of Funding

Authors acknowledge funding for the whole exome sequencing from CSIR India through Grant BSC0122 (WGP).

References

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    Woellner C, Gertz EM, Schäffer AA, et al. Mutations in the signal transducer and activator of transcription 3 (STAT3) and diagnostic guidelines for the hyper-IgE syndrome. J Allergy Clin Immunol. 2010;125:424–32.CrossRefPubMedPubMedCentralGoogle Scholar
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    Milner JD, Brenchley JM, Laurence A, et al. Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature. 2008;452:773–6.CrossRefPubMedPubMedCentralGoogle Scholar
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    Krassilnikova SI, Davies M, Rosch J. The role of IVIG in treatment of hyper-IgE syndrome (HIES). J Allergy Clin Immunol. 2007;119:S184.CrossRefGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  1. 1.Department of PediatricsGovt. Medical CollegeKozhikodeIndia
  2. 2.Department of PediatricsKannur Medical CollegeAnjirakkandyIndia
  3. 3.CSIR Institute of Genomics and Integrative BiologyKeralaIndia

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