Hyper IgE syndrome
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.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
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
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.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
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.
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.
Other Names (AKA)
Hyperimmunoglobulin E syndrome; HIES; Hyper-IgE recurrent infection syndrome
Immune System Diseases
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||
|5%-29% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Chronic mucocutaneous candidiasis||0002728|
|Coarse facial features||
Coarse facial appearance
High blood eosinophil count
Paralysis on one side of body
Increased palatal height
[ more ]
Widely spaced eyes
[ more ]
|Increased circulating IgE level||0003212|
Onset in first year of life
Onset in infancy
[ more ]
Increased mobility of joints
[ more ]
|Persistence of primary teeth||
Delayed loss of baby teeth
Failure to lose baby teeth
Retained baby teeth
[ more ]
[ more ]
|Recurrent bacterial infections||
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ]
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
|Recurrent fungal infections||0002841|
|Recurrent sinopulmonary infections||
Recurrent sinus and lung infections
|Recurrent Staphylococcus aureus infections||0002726|
|Recurrent viral infections||0004429|
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
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.
Canadian Immunodeficiencies Patient Organization (CIPO)
25 La Grave St
R3V 1J1 Canada
Telephone: 877-262-2476 (toll-free)
Fax: 866-942-7651 (toll-free)
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
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.
- 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.
- 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.
- 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; https://www.ncbi.nlm.nih.gov/books/NBK25507/. Accessed 10/9/2012.
- Harumi Jyonouchi. Hyperimmunoglobulinemia E (Job) Syndrome. Medscape Reference. August 2, 2011; https://emedicine.medscape.com/article/886988-overview. Accessed 10/9/2012.
- 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.
- 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.