مجله دانشکده دندانپزشکی اصفهان (Jan 2012)
Hyperimmunoglobulin E syndrome: A case report
Abstract
AbstractIntroduction: Hyperimmunoglobulin E or Job’s syndrome is a rare congenital immune system disorder characterized by the classic triad of high serum IgE levels, severe eczematous dermatitis, and recurrent skin and lung infections. Most cases are autosomal dominant forms, but both autosomal recessive forms and sporadic cases have been described. In the majority of affected patients with autosomal dominant hyper-IgE syndrome a mutation in the STAT3 gene has been identified, A homozygous mutations in DOCK8 and TYK2 genes has been identified as the cause of patients with autosomal recessive hyper-IgE syndrome. The autosomal dominant hyper-IgE syndrome is associated with a cluster of facial, dental, skeletal, and connective tissue abnormalities which are not observable in the recessive type. An autosomal recessive disease characterized by severe recurrent fungal and viral infections, neurologic abnormalities and upper and lower respiratory tract infections. Eosinophilia is more common in autosomal recessive hyper-IgE syndrome than in autosomal dominant hyper-IgE syndrome. Case report: In the present case report two cases of hyper-IgE syndrome in one family with dermatitis and oral mucous and gingival lesions are presented. The medical history revealed high serum levels of IgE and high eosinophil counts. There were no reports of skeletal and dental abnormalities, and pneumonia. Discussion and conclusion: Regarding familial history, the absence of somatic features and an increased incidence of severe recurrent fungal and viral infections suggest that inheritance of the disease is most probably autosomal recessive. Key words: Candidiasis, Job’s syndrome, Immunoglobulin E, Oral.
