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2018 ; 63
(1
): 79-81
Nephropedia Template TP
Liza M
; Gaurav D
; Prasenjeet M
; Swapna J
; Binodini B
Indian J Dermatol
2018[Jan]; 63
(1
): 79-81
PMID29527033
show ga
The hyper-IgE syndrome (HIES) is a rare group of primary immunodeficiency
characterised by recurrent infections, eczema, and elevated serum levels of IgE.
Autosomal dominant HIES is caused by mutations in transcription factor - signal
transducer and activator of transcription-3. Autosomal-recessive (AR) HIES was
described in 2004 due to mutation of tyrosine kinase 2 gene, and subsequently,
another mutation in dedicator of cytokinesis 8 gene was discovered in 2009.
Although both the forms have many common clinical features, few characteristic
findings help in differentiating them. AR-HIES is characterized by recurrent
bacterial and viral infections, atopic eczema, and raised serum IgE levels. We
report a case of a 4-year-old girl presenting with the features of AR-HIES to
highlight the presentation of this rare disease.