Autosomal dominant hyper-IgE syndrome - MedlinePlus
Autosomal dominant hyper-IgE syndrome (AD-HIES), formerly known as Job syndrome, is a condition that affects several body systems, particularly the immune system. Explore symptoms, inheritance, genetics of this condition.
Hyper IgE Syndrome (Job's Syndrome) | Symptoms & Treatment
What is Hyper IgE Syndrome (Job’s Syndrome)? Hyper IgE syndrome is an immune deficiency caused by a genetic mutation in either STAT3 (autosomal dominant, also known as Job’s syndrome) or DOCK8 (autosomal recessive). There may be other mutations in other genes that are not known at this time.
The Hyper IgE Syndromes - PMC - PubMed Central (PMC)
The hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, rash and recurrent bacterial infections of the skin and lung. Autosomal dominant HIES, the most common disease in this group, results from STAT3 mutations and has a variety of connective tissue and skeletal abnormalities.
Autosomal dominant hyper-IgE syndrome | About the Disease
Autosomal dominant hyper-IgE syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
STAT3 Hyper IgE Syndrome - GeneReviews® - NCBI Bookshelf
2010年2月23日 · STAT3 hyper IgE syndrome (STAT3-HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several nonimmune features. This disorder typically manifests in the newborn period with a rash (often diagnosed as eosinophilic pustulosis) that ...
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
STAT3 hyper IgE syndrome (STAT3-HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several nonimmune features. ... Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics ...
Hyper-IgE syndrome | About the Disease | GARD - Genetic and …
Hyper-IgE syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
STAT3 Mutations in the Hyper-IgE Syndrome | NEJM
2007年10月18日 · We identified missense mutations and single-codon in-frame deletions in STAT3 in 50 familial and sporadic cases of the hyper-IgE syndrome. Eighteen discrete mutations, five of which were hot...
The Hyper-IgE Syndromes - Immunology and Allergy Clinics
The hyper-IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, dermatitis, and recurrent skin and lung infections. There are two forms of HIES: a dominant form caused by mutations in STAT3 , and a recessive form, for …
Hyper-IgE syndrome - ScienceDirect
2009年10月1日 · Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria.
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