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  3. Autosomal recessive hyper IgE syndrome
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Autosomal recessive hyper IgE syndrome


Title


Other Names:
DOCK8 deficiency; Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; HIES autosomal recessive; DOCK8 deficiency; Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; HIES autosomal recessive; AR-HIES; AR hyperimmunoglobulin E syndrome; Hyper Ig E syndrome, autosomal recessive See More
Categories:
Immune System Diseases

Summary Summary


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Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome. AR-HIES accounts for only a small minority of HIES cases, with about 130 affected families reported so far.[1]

In contrast to AD-HIES, the AR variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum; involvement of the central nervous system; T-cell defects; and a high death rate. The dental, skeletal, connective tissue, and facial features present in AD-HIES are absent in AR-HIES.[1] AR-HIES is inherited in an autosomal recessive fashion and is caused by mutations in the DOCK8 gene.[1][2]

Last updated: 1/14/2014

Symptoms Symptoms


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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.

Showing of 14 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Asthma 0002099
Atopic dermatitis 0001047
Autosomal recessive inheritance 0000007
Cerebral vasculitis 0005318
Eczema 0000964
Eosinophilia
High blood eosinophil count
0001880
Hemiplegia 0002301
Infantile onset
Onset in first year of life
Onset in infancy
[ more ]
0003593
Neoplasm 0002664
Recurrent bacterial infections
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ]
0002718
Recurrent fungal infections 0002841
Recurrent sinopulmonary infections
Recurrent sinus and lung infections
0005425
Recurrent viral infections 0004429
Subarachnoid hemorrhage 0002138
Showing of 14 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2019
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research


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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 Autosomal recessive 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 Autosomal recessive 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 Autosomal recessive hyper IgE syndrome:
    European Society for Immunodeficiencies (ESID) Registry
     

Organizations Organizations


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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

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

Learn More Learn More


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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

  • Genetics Home Reference (GHR) contains information on Autosomal recessive hyper IgE syndrome. This website is maintained by the National Library of Medicine.
  • 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

  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal recessive hyper IgE syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • NIH Hosts Rare Disease Day Event, Twitter Chat
    January 24, 2019

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.

References References


  1. Woellner C & Grimbacher B. Autosomal recessive hyper IgE syndrome. Orphanet. June 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169446. Accessed 1/14/2014.
  2. Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive. Online Mendelian Inheritance of Man (OMIM). June 21, 2013; http://omim.org/entry/243700. Accessed 1/14/2014.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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