title: A rare primary immunodeficiency.
abstract: A 9-year-old girl presented with failure to thrive, chronic mucopurulent nasal discharge, recurrent skin pustules and recurrent episodes of purulent ear discharge since 2 years of age. She had coarse facial features with extensive eczema, multiple pyoderma scars, florid dental caries, retained primary dentition, hypermobile joints and a woody induration of the vulva. Autosomal dominant hyper-IgE syndrome was suspected and confirmed by very high serum IgE levels. Vulval biopsy revealed a premalignant condition. STAT 3 mutation, which is usually responsible for this condition, was not found in our case, indicating an as yet unidentified mutation. The child also had unusual features like the total absence of clinical and radiological features of pneumonia. The premalignant change in the vulva was also unusual since vulval carcinoma has not been reported so far in children with this disorder. This child will require a close follow-up to look for malignant transformation.
authors.affiliation: Department of Paediatrics, ESIC Medical College and ESI-PGIMSR, Chennai, Tamil Nadu, India.
authors.forename: Poornima
authors.initials: P
authors.lastname: Nagaraj
authors.affiliation: Department of Paediatrics, ESIC Medical College and ESI-PGIMSR, Chennai, Tamil Nadu, India.
authors.forename: Shobhana
authors.initials: S
authors.lastname: Sivathanu
authors.affiliation: Department of Paediatrics, ESIC Medical College and ESI-PGIMSR, Chennai, Tamil Nadu, India.
authors.forename: Sowmya
authors.initials: S
authors.lastname: Sampath
authors.affiliation: Department of Paediatrics, ESIC Medical College and ESI-PGIMSR, Chennai, Tamil Nadu, India.
authors.forename: Nithiyanantham
authors.initials: N
authors.lastname: Ramakrishnan
mesh_terms: D001706:Biopsy; D002648:Child; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D050796:STAT3 Transcription Factor / Q000235:genetics* / Q000378:metabolism
chemical_list: D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human; D004247:DNA