Hyper-IgE syndrome

Hyper-IgE syndrome

Name = Hyper-IgE syndrome

Caption =
DiseasesDB = 29572
ICD10 = ICD10|D|82|4|d|80
ICD9 = ICD9|288.1
OMIM = 29572
OMIM_mult = OMIM2|147060 | MedlinePlus =
eMedicineSubj = derm
eMedicineTopic = 845
eMedicine_mult = eMedicine2|ped|1074 | MeshID = D007589

Hyper IgE syndrome (HIES), also called Job-Buckley syndrome, Job's syndrome and Buckley syndrome, is a heterogeneous group of disorders characterized by recurrent staphylococcal infections, unusual eczema-like skin rashes, severe lung infections that result in pneumatoceles (balloon-like lesions that may be filled with air or pus or scar tissue) and very high concentrations of the serum antibody IgE. Some patients have an autosomal dominant form of the disease; these patients have problems with their bones including recurrent fractures and scoliosis. Many patients with autosomal dominant hyper IgE syndrome fail to lose their primary teeth and have two sets of teeth simultaneously.


HIES was first described by Davis et al in 1966 in two girls with red hair, chronic dermatitis, and recurrent staphylococcal abscesses and pneumonias. [cite journal |author=Davis S, Schaller J, Wedgwood R |title=Job's Syndrome. Recurrent, "cold", staphylococcal abscesses |journal=Lancet |volume=1 |issue=7445 |pages=1013–5 |year=1966 |pmid=4161105 |doi=10.1016/S0140-6736(66)90119-X] They named the disease after the biblical character Job, whose body was covered with boils by Satan. In 1972, Buckley et al described two boys with similar symptoms as well as coarse facies, eosinophilia, and elevated serum IgE levels. These two syndromes are thought to be the same and are under the broad category of HIES. [cite journal |author=Buckley R, Wray B, Belmaker E |title=Extreme hyperimmunoglobulinemia E and undue susceptibility to infection |journal=Pediatrics |volume=49 |issue=1 |pages=59–70 |year=1972 |pmid=5059313]


Abnormal neutrophil chemotaxis due to decreased production of interferon gamma is thought to cause the disease. [cite journal |author=Borges W, Augustine N, Hill H |title=Defective interleukin-12/interferon-gamma pathway in patients with hyperimmunoglobulinemia E syndrome |journal=J Pediatr |volume=136 |issue=2 |pages=176–80 |year=2000 |pmid=10657822 |doi=10.1016/S0022-3476(00)70098-9] But both autosomal dominant and recessive inheritance have been described. The disease was linked to mutations in the "STAT3" gene after cytokine profiles indicated alterations in the STAT3 pathway. [Holland SM, DeLeo FR, Elloumi HZ "et al". (2007). [http://content.nejm.org/cgi/content/full/NEJMoa073687 STAT3 Mutations in the Hyper-IgE Syndrome] . "N. Engl. J. Med." published online, 2007-09-19. DOI|10.1056/NEJMoa073687.]

Laboratory studies

Elevated IgE is the hallmark of HIES, usually > 10 times normal. However, patients younger than 6 months of age may have very low to non-detectable IgE levels. Eosinophilia is also a common finding with greater than 90% of patients having eosinophil elevations greater than two standard deviations above the normal mean.cite journal |author=Grimbacher B, Holland S, Gallin J, Greenberg F, Hill S, Malech H, Miller J, O'Connell A, Puck J |title=Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder |journal=N Engl J Med |volume=340 |issue=9 |pages=692–702 |year=1999 |pmid=10053178 |doi=10.1056/NEJM199903043400904]

Clinical characteristics

HIES often appears early in life with recurrent staphylococcal and candidal infections, pneumonias, and eczematoid skin. Characteristic facial, dental, and skeletal abnormalities have also been described. Patients with HIES have either delay of or failure in shedding of primary teeth. The characteristic facial features are usually set by age 16. These include facial asymmetry, a prominent forehead, deep-set eyes, a broad nasal bridge, a wide, fleshy nasal tip, and mild prognathism. Additionally, facial skin was rough with prominent pores. Finally, some patients have scoliosis, as well as bones that fracture easily.


Most patients with hyper IgE syndrome are treated with chronic antibiotics to help protect them from staphylococcal infections. Good skin care is also important in patients with hyper IgE syndrome. High-dose intravenous gamma-globulin has also been suggested for the treatment of severe eczema in patients with HIES and atopic dermatitis. [cite journal |author=Kimata H |title=High-dose intravenous gamma-globulin treatment for hyperimmunoglobulinemia E syndrome |journal=J Allergy Clin Immunol |volume=95 |issue=3 |pages=771–4 |year=1995 |pmid=7897163 |doi=10.1016/S0091-6749(95)70185-0]


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