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Hyper-IgE syndrome



Hyper-IgE syndrome
Classification & external resources
ICD-10 D82.4
ICD-9 288.1
OMIM 29572 147060
DiseasesDB 29572
eMedicine derm/845  ped/1074
MeSH D007589

Hyper IgE syndrome (HIES) 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 baby teeth and have two sets of teeth simultaneously.

Additional recommended knowledge

Contents

Synonyms

Also known as Job-Buckley syndrome, Job syndrome, and Buckley syndrome.

History

HIES was first described by Davis et al in 1966 in two girls with red hair, chronic dermatitis, and recurrent staphylococcal abscesses and pneumonias.[1] 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.[2]

Pathophysiology

Abnormal neutrophil chemotaxis due to decreased production of interferon gamma is thought to cause the disease.[3] 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.[4]

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.[5]

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.[5]

Treatment

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.[6]

References

  1. ^ Davis S, Schaller J, Wedgwood R (1966). "Job's Syndrome. Recurrent, "cold", staphylococcal abscesses". Lancet 1 (7445): 1013-5. PMID 4161105.
  2. ^ Buckley R, Wray B, Belmaker E (1972). "Extreme hyperimmunoglobulinemia E and undue susceptibility to infection". Pediatrics 49 (1): 59-70. PMID 5059313.
  3. ^ Borges W, Augustine N, Hill H (2000). "Defective interleukin-12/interferon-gamma pathway in patients with hyperimmunoglobulinemia E syndrome". J Pediatr 136 (2): 176-80. PMID 10657822.
  4. ^ Holland SM, DeLeo FR, Elloumi HZ et al. (2007). STAT3 Mutations in the Hyper-IgE Syndrome. N. Engl. J. Med. published online, 2007-09-19. doi:10.1056/NEJMoa073687.
  5. ^ a b Grimbacher B, Holland S, Gallin J, Greenberg F, Hill S, Malech H, Miller J, O'Connell A, Puck J (1999). "Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder". N Engl J Med 340 (9): 692-702. PMID 10053178.
  6. ^ Kimata H (1995). "High-dose intravenous gamma-globulin treatment for hyperimmunoglobulinemia E syndrome". J Allergy Clin Immunol 95 (3): 771-4. PMID 7897163.
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Hyper-IgE_syndrome". A list of authors is available in Wikipedia.
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