Hyper IgE syndrome

Title

Other Names:

Hyperimmunoglobulin E syndrome; HIES; Hyper-IgE recurrent infection syndrome

Categories:

Immune System Diseases

Subtypes:

Autosomal dominant hyper IgE syndrome

Summary Summary

Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections. There are two forms of HIES, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES).^[1] Click on the embedded links to learn more about autosomal dominant HIES (or Job syndrome) and autosomal recessive HIES.

Last updated: 7/14/2015

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
5%-29% of people have these symptoms
Craniosynostosis		0001363
1%-4% of people have these symptoms
Arnold-Chiari type I malformation		0007099
Percent of people who have these symptoms is not available through HPO
Asthma		0002099
Atopic dermatitis		0001047
Autosomal dominant inheritance		0000006
Autosomal recessive inheritance		0000007
Cerebral vasculitis		0005318
Chronic mucocutaneous candidiasis		0002728
Coarse facial features	Coarse facial appearance	0000280
Eczema		0000964
Eczematoid dermatitis		0000976
Eosinophilia	High blood eosinophil count	0001880
Erythema		0010783
Frontal bossing		0002007
Hemiplegia	Paralysis on one side of body	0002301
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Increased circulating total IgE level		0003212
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Joint hypermobility	Double-Jointed Flexible joints Increased mobility of joints [ more ]	0001382
Neoplasm		0002664
Osteopenia		0000938
Persistence of primary teeth	Delayed loss of baby teeth Failure to lose baby teeth Retained baby teeth [ more ]	0006335
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220
Recurrent bacterial infections	Bacterial infections, recurrent Frequent bacterial infections Increased susceptibility to bacterial infections Recurrent major bacterial infections [ more ]	0002718
Recurrent fractures	Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Varying degree of multiple fractures [ more ]	0002757
Recurrent fungal infections		0002841
Recurrent pneumonia		0006532
Recurrent sinopulmonary infections	Recurrent sinus and lung infections	0005425
Recurrent Staphylococcus aureus infections		0002726
Recurrent viral infections		0004429
Scoliosis	Abnormal curving of the spine	0002650
Skin rash		0000988
Subarachnoid hemorrhage		0002138
Wide nose	Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ]	0000445

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2020

Do you have updated information on this disease? We want to hear from you.

Prognosis Prognosis

The long-term outlook for individuals with HIES depends on the type of the condition present (the autosomal dominant or autosomal recessive form) and how severely affected the individual is.

Most individuals with the autosomal dominant form (AD-HIES) survive into mid-adulthood, but a shortened life span is common.^[2]^[3] The oldest reported affected individual was approximately 60 years of age.^[3] Deaths in the second and third decades of life due to severe pulmonary disease and infection of pneumatoceles (thin-walled, air-filled cysts) have been reported.^[3] Other reported complications have included myocardial infarction (heart attack) related to coronary artery aneurysm and subarachnoid hemorrhage related to intracranial (brain) aneurysm. Lymphomas occur more commonly in affected individuals. Other malignancies (cancers) have also been reported.^[2]

Prognosis for individuals with the autosomal recessive form (AR-HIES) is poor with most affected individuals not reaching adulthood if untreated. AR-HIES has high mortality due to sepsis, central nervous system (CNS) infections, and early onset of malignancies.^[4] Individuals with mutations in the DOCK8 gene are known to have frequent complications with cutaneous viral infections caused by varicella-zoster, herpes simplex viruses, HPV, and molluscum contagiosum virus at a younger age. Individuals with AR-HIES are also known to develop severe chronic refractory molluscum contagiosum infections (resistant to treatment).^[3]

Last updated: 10/10/2012

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Hyper IgE syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Hyper IgE syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Hyper IgE syndrome:
European Society for Immunodeficiencies (ESID) Registry

United States Immunodeficiency Network (USIDNET)
110 West Road, Suite 300
Towson, MD 21204-4803
Toll-free: 800-296-4433 (se habla español)
Telephone: 443-632-2558
E-mail: contact@usidnet.org
Website: https://www.usidnet.org

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Canadian Immunodeficiencies Patient Organization (CIPO)
25 La Grave St
Winnepeg, MB
R3V 1J1 Canada
Telephone: 877-262-2476 (toll-free)
Fax: 866-942-7651 (toll-free)
E-mail: http://www.cipo.ca/#contact
Website: http://cipo.ca
Immune Deficiencies Foundation Australia
PO Box 969
Penrith NSW 2751
Australia
Telephone: 800-100-198
E-mail: info@idfa.org.au
Website: http://www.idfa.org.au/
Immune Deficiency Foundation
110 West Road, Suite 300
Towson, MD 21204
Toll-free: 1-800-296-4433
Fax: +1-410-321-9165
E-mail: https://www.primaryimmune.org/services/ask-idf/
Website: https://www.primaryimmune.org/
Primary Immune Deficiency UK (PID UK)
PO Box 6970
Basingstoke, RG24 4XL United Kingdom
Toll-free: 0800 987 8986
E-mail: hello@piduk.org
Website: http://www.piduk.org/

Organizations Providing General Support

American Autoimmune Related Diseases Association (AARDA)
22100 Gratiot Avenue
Eastpointe, MI 48021
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: aarda@aarda.org
Website: https://www.aarda.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
Genetics Home Reference (GHR) contains information on Hyper IgE syndrome. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Autosomal dominant hyper IgE syndrome
Autosomal recessive hyper IgE syndrome
PubMed is a searchable database of medical literature and lists journal articles that discuss Hyper IgE syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

Does the eczema associated with Job syndrome respond to dietary restriction? In particular, is the eczema due to food allergies or will these kids have eczema unrelated to food? See answer
I was diagnosed with Job syndrome when I was little and I'm now twenty years old and searching for answers about my condition. Where can I find out what's going to come in my future as far as my health and physically? See answer

Have a question? Contact a GARD Information Specialist.

References References

Alexandra F Freeman and Steven M Holland. The Hyper IgE Syndromes. Immunol Allergy Clin North Am. May 2008; 28(2):277.
Amy P Hsu, Joie Davis, Jennifer M Puck, Steven M Holland, and Alexandra F Freeman. Autosomal Dominant Hyper IgE Syndrome. GeneReviews. June 7, 2012; http://www.ncbi.nlm.nih.gov/books/NBK25507/. Accessed 10/9/2012.
Harumi Jyonouchi. Hyperimmunoglobulinemia E (Job) Syndrome. Medscape Reference. August 2, 2011; http://emedicine.medscape.com/article/886988-overview. Accessed 10/9/2012.
Bodo Grimbacher and Cristina Woellner. Autosomal recessive hyper IgE syndrome. Orphanet. June 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169446. Accessed 10/10/2012.
Bodo Grimbacher and Cristina Woellner. Autosomal dominant hyper IgE syndrome. Orphanet. June 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2314. Accessed 10/10/2012.