16th February 2024

A 5-year-old female presents with mucosal plaques within her mouth for the past two months

A 5-year-old female presents with mucosal plaques within her mouth for the past two months. These were described as white pseudomembranes across her buccal mucosa. Following this, she developed erythema around her mouth, with dark brown scabs forming around these regions. Topical and oral antibiotics were trialled without any response. Microscopy of the lesions demonstrated dense hyphae. Associated blood tests revealed mild hypocalcaemia with low levels of PTH. B-cell lymphocyte counts and immunoglobulin levels were normal. DNA sequencing revealed mutations within the STAT1 gene.

Which of the following diagnoses is likely?

Select the SINGLE most appropriate option from the list below. Select ONE option only.