Hyper IgE syndrome with congenital hypothyroidism: a rare association

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Hyper IgE syndrome (HIES) is a rare immunodeficiency syndrome, with autosomal dominant inheritance, caused mainly due to STAT 3 mutation. The affected children usually present with atopic dermatitis, recurrent staphylococcal infections, phenotypic characteristics and increased IgE levels. Though, there is a case report of autoimmune thyroiditis in HIES, congenital hypothyroidism is not reported. Here we report a case of HIES with typical phenotypic features with congenital hypothyroidism that presented to us with recurrent infections, atopic dermatitis and pneumatocele of right lung. Child was subsequently managed with antibiotics, levothyroxine and lobectomy.