Hyper-IgE syndrome: Difference between revisions
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{{SI}} | {{SI}} | ||
{{CMG}}; | {{CMG}}; {{AE}} {{CZ}} | ||
{{SK}} Job-Buckley syndrome; Job syndrome; Buckley syndrome. | |||
==Overview== | ==Overview== | ||
'''Hyper IgE syndrome''' (HIES) is a heterogeneous group of disorders characterized by recurrent [[Staphylococcus|staphylococcal]] [[infection]]s, unusual [[eczema]]-like skin rashes, severe [[lung]] infections that result in [[Pneumatocyst|pneumatoceles]] (balloon-like lesions that may be filled with air or pus or scar tissue) and very high concentrations of serum [[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. | '''Hyper IgE syndrome''' (HIES) is a heterogeneous group of disorders characterized by recurrent [[Staphylococcus|staphylococcal]] [[infection]]s, unusual [[eczema]]-like skin rashes, severe [[lung]] infections that result in [[Pneumatocyst|pneumatoceles]] (balloon-like lesions that may be filled with air or pus or scar tissue) and very high concentrations of serum [[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. | ||
== | ==Historical Perspective== | ||
HIES was first described by Davis et al in 1966 in two girls with red hair, chronic dermatitis, and recurrent staphylococcal abscesses and pneumonias.<ref>{{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}}</ref> 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.<ref>{{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}}</ref> | |||
== | ==Classification== | ||
==Pathophysiology== | ==Pathophysiology== | ||
Abnormal neutrophil [[chemotaxis]] due to decreased production of [[interferon gamma]] is thought to cause the disease.<ref>{{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}}</ref> But both [[autosomal dominant]] and [[autosomal recessive|recessive]] inheritance have been described. The disease was linked to mutations in the ''[[STAT3]]'' gene after cytokine profiles indicated alterations in the STAT3 pathway.<ref>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}}.</ref> | Abnormal neutrophil [[chemotaxis]] due to decreased production of [[interferon gamma]] is thought to cause the disease.<ref>{{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}}</ref> But both [[autosomal dominant]] and [[autosomal recessive|recessive]] inheritance have been described. The disease was linked to mutations in the ''[[STAT3]]'' gene after cytokine profiles indicated alterations in the STAT3 pathway.<ref>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}}.</ref> | ||
==Laboratory | ==Causes== | ||
==Differentiating {{PAGENAME}} from Other Diseases== | |||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
===Natural History=== | |||
===Complications=== | |||
===Prognosis=== | |||
==Diagnosis== | |||
===Diagnostic Criteria=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
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.<ref name="Grimbacher"> </ref> | |||
===Laboratory Findings=== | |||
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.<ref name="Grimbacher">{{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}}</ref> | 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.<ref name="Grimbacher">{{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}}</ref> | ||
== | ===Imaging Findings=== | ||
===Other Diagnostic Studies=== | |||
==Treatment== | ==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]].<ref>{{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}}</ref> | 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]].<ref>{{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}}</ref> | ||
===Surgery=== | |||
===Prevention=== | |||
==References== | ==References== | ||
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{{Immune disorders}} | {{Immune disorders}} | ||
[[Category: | [[Category:Hematology]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
[[Category: | [[Category:Immunology] | ||
{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
Revision as of 15:32, 23 June 2016
| Hyper-IgE syndrome | |
| ICD-10 | D82.4 |
|---|---|
| ICD-9 | 288.1 |
| OMIM | 29572 147060 |
| DiseasesDB | 29572 |
| eMedicine | derm/845 ped/1074 |
| MeSH | D007589 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Synonyms and keywords: Job-Buckley syndrome; Job syndrome; Buckley syndrome.
Overview
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 serum 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.
Historical Perspective
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]
Classification
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]
Causes
Differentiating Hyper-IgE syndrome from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Natural History
Complications
Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
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]
Laboratory Findings
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]
Imaging Findings
Other Diagnostic Studies
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]
Surgery
Prevention
References
- ↑ Davis S, Schaller J, Wedgwood R (1966). "Job's Syndrome. Recurrent, "cold", staphylococcal abscesses". Lancet. 1 (7445): 1013–5. PMID 4161105.
- ↑ Buckley R, Wray B, Belmaker E (1972). "Extreme hyperimmunoglobulinemia E and undue susceptibility to infection". Pediatrics. 49 (1): 59–70. PMID 5059313.
- ↑ 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.
- ↑ 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.
- ↑ 5.0 5.1 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.
- ↑ Kimata H (1995). "High-dose intravenous gamma-globulin treatment for hyperimmunoglobulinemia E syndrome". J Allergy Clin Immunol. 95 (3): 771–4. PMID 7897163.
[[Category:Immunology]