Hyper IgE syndrome with congenital hypothyroidism: a rare association
DOI:
https://doi.org/10.18203/2349-3291.ijcp20231864Keywords:
Congenital hypothyroidism, Hyper IgE syndrome, PneumatocelesAbstract
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.
References
Davis SD, Schaller J, Wedgwood RJ. Job's Syndrome. Recurrent, "cold", staphylococcal abscesses. Lancet. 1966;1(7445):1013-5.
Buckley RH, Wray BB, Belmaker EZ. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 1972;49(1):59-70.
Sullivan KE, Buckley RH. Combined Immunodeficiency, autosomal dominant hyper-IgE syndrome. Nelson textbook of pediatrics. 21st ed. India: Elsevier; 2020: 1118.
Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, et al. Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med. 1999;340(9):692-702.
Pherwani AV, Madnani NA. Hyperimmunoglobulin E syndrome. Indian Pediatr. 2001;38(9):1029-34.
Arif T, Adil M, Amin SS. Autoimmune hypothyroidism in jobs syndrome: An extremely rare finding. Indian Journal of Paediatric Dermatology. 2017;18(2):145-7.
