Hyper-ige Recurrent Infection Syndrome, Autosomal Recessive

Description

Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

Clinical Features

• Neoplasm
• Anemia
• Abnormality of the dentition
• Immunodeficiency
• Recurrent infections
• Coarse facial features
• Hemolytic anemia
• Asthma
• Otitis media
• Eczema

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