title: Hyper-IgE syndrome with a novel STAT3 mutation-a single center study from India.
abstract: BACKGROUND
  Hyper IgE syndrome (HIES) is a rare primary immunodeficiency disorder characterized by the triad of elevated IgE and eosinophilia, eczema and recurrent skin and pulmonary infections. Mutation in the STAT3 gene accounts for majority of the autosomal dominant and sporadic forms of HIES.
  
  
  OBJECTIVE
  To report clinical and molecular analyses of patients with Hyper IgE syndrome from a single tertiary care center in India.
  
  
  METHODS
  Four patients with suspected HIES were studied. Flowcytometry for T(H)17 cell numbers and phosphoSTAT3, and STAT3 gene sequencing were performed.
  
  
  RESULTS
  T(H)17 cells were significantly reduced. Mutations were found in the DNA-binding domain in three and a mutation in the transactivation domain in one patient. One of the mutations detected was a novel mutation (g54792 c.1018A> C p.K340Q) in the DNA binding domain. Mycobacterial infection, which is usually not commonly associated with HIES was found in two of our cases, one with a cutaneous abscess in the shoulder, and the other with BCG site reactivation.
  
  
  CONCLUSIONS
  A novel mutation in the STAT3 is reported. Mycobacterial infections can be seen in the spectrum of HIES related infections.
authors.affiliation: Departments of Immunopathology and Pediatrics Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Biman
authors.initials: B
authors.lastname: Saikia
authors.forename: Deepti
authors.initials: D
authors.lastname: Suri
authors.forename: Shubham
authors.initials: S
authors.lastname: Goel
authors.forename: Amit
authors.initials: A
authors.lastname: Rawat
authors.forename: Ranjana W
authors.initials: RW
authors.lastname: Minz
authors.forename: Anju
authors.initials: A
authors.lastname: Gupta
authors.forename: Sudha
authors.initials: S
authors.lastname: Sharma
authors.forename: Osamu
authors.initials: O
authors.lastname: Ohara
authors.forename: Kohsuke
authors.initials: K
authors.lastname: Imai
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Nonoyama
authors.forename: Shobha
authors.initials: S
authors.lastname: Sehgal
authors.forename: Surjit
authors.initials: S
authors.lastname: Singh
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005434:Flow Cytometry; D006801:Humans; D007194:India; D007223:Infant; D007589:Job Syndrome / Q000235:genetics* / Q000276:immunology; D008297:Male; D009154:Mutation; D010375:Pedigree; D050796:STAT3 Transcription Factor / Q000235:genetics*; D058504:Th17 Cells / Q000276:immunology
chemical_list: D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human