Disease Profile

Hyper IgE syndrome

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of Onset

-

ICD-10

D82.4

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

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

Categories

Immune System Diseases

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.

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.

Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Craniosynostosis
0001363
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 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
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

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

    Organizations Providing General Support

      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.
      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • Genetics Home Reference (GHR) contains information on Hyper IgE syndrome. This website is maintained by the National Library of Medicine.
      • 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.

          References

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