STAT3base: Hyper-IgE syndrome

Version 1.1 last updated 16 June, 2011 contains 94 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the STAT3base :

Hyper IgE syndrome is a rare complex disorder characterised by markedly elevated serum IgE levels (>2000IU/ml), chronic dermatitis and serious recurrent infections, pneumonia with pneumatocele formation, recurring staphylococcal skin abcesses. There may be IgG subclass and specific antibody deficiencies, with poor/absent immunization responses. Also have been reported variable abnormalities of neutrophil function, affecting chemotaxis, phagocytosis, and microbicidal activity. There is an imbalance of cytokine production due to Th2 predominance (IL-4, IL-5). Most cases are sporadic, but both autosomal recessive forms (AR-HIES) and autosomal dominant forms of HIES (AD-HIES) have been described. AR-HIES forms are characterized by severe recurrent viral infections, extreme eosinophilia, neurological complications, but without skeletal or dental abnormalities. AD-HIES are associated with skeletal symptoms such as hyperextensibility of joints, scoliosis, osteoporosis, and retained primary teeth.

Other IBT bioinformatics services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: STAT3base