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Disease Profile
Immunodeficiency with hyper IgM type 1
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.
0
Age of onset
-
ICD-10
D80.5
Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
X-linked hyper IgM syndrome; Hyper IgM immunodeficiency, x-linked; Hyper IgM syndrome;
Categories
Congenital and Genetic Diseases; Immune System Diseases
Summary
Hyper IgM
Hyper IgM syndromes are characterized by normal or elevated serum immunoglobulin M levels with absence of immunoglobulin G, A, and E. Immunoglobulins are
Symptoms
Other signs of the disease include enlarged tonsils, liver, and spleen, chronic diarrhea, and an increased risk of unusual or “opportunistic” infections and non-Hodgkins lymphoma.[5][3][4] Opportunistic infections are infections caused by microorganisms that usually do not cause disease in individuals with fully functioning immune systems (non-immunocompromised) or widespread (systemic) overwhelming disease by microorganisms that typically cause only localized, mild infections. In individuals with Hyper-IgM Syndrome, such opportunistic infections may include those caused by Pneumocystis carinii, a microorganism that causes a form of pneumonia, or Cryptosporidium, a single-celled parasite (protozoa) that can cause infections of the intestinal tract.[4]
In addition, individuals with Hyper-IgM Syndrome are prone to certain autoimmune disorders affecting particular elements of the blood. Autoimmune attacks on
The range and severity of symptoms and physical features associated with this disorder may vary from case to case.[4]
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
|
---|---|---|
1%-4% of people have these symptoms | ||
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Diarrhea |
Watery stool
|
0002014 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Hepatitis |
Liver inflammation
|
0012115 |
0001287 | ||
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ] |
0001875 |
Oral ulcer |
Mouth ulcer
|
0000155 |
Recurrent lower respiratory tract infections |
Recurrent chest infections
|
0002783 |
Sclerosing cholangitis | 0030991 | |
Sepsis |
Infection in blood stream
|
0100806 |
Percent of people who have these symptoms is not available through HPO | ||
Absence of |
0002849 | |
Autoimmune |
0001890 | |
Autoimmune |
0001973 | |
0000007 | ||
Bronchiectasis |
Permanent enlargement of the airways of the lungs
|
0002110 |
Chronic hepatitis |
Chronic liver inflammation
|
0200123 |
Decreased circulating IgA level | 0002720 | |
Decreased circulating IgE | 0005479 | |
Decreased circulating IgG level | 0004315 | |
Decreased T |
0005419 | |
Dysgammaglobulinemia | 0002961 | |
Enlarged tonsils | 0030812 | |
Epididymitis | 0000031 | |
Gingivitis |
Inflamed gums
Red and swollen gums
[ more ] |
0000230 |
Hemolytic anemia | 0001878 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Decreased immune function
|
0002721 | |
Impaired Ig class switch |
0002959 | |
Impaired memory B cell generation | 0002847 | |
Increased circulating IgM level | 0003496 | |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Myelodysplasia | 0002863 | |
Osteomyelitis |
Bone infection
|
0002754 |
Recurrent bacterial infections |
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ] |
0002718 |
Recurrent infection of the gastrointestinal tract |
Recurrent gastrointestinal infections
|
0004798 |
Recurrent upper and lower respiratory tract infections | 0200117 | |
Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 |
Splenomegaly |
Increased spleen size
|
0001744 |
Stomatitis |
Inflammation of the mouth
|
0010280 |
Thrombocytopenia |
Low platelet count
|
0001873 |
0001419 |
Cause
A small number of cases of hyper IgM syndrome have been attributed to
Diagnosis
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.
Treatment
Most children with hyper-IgM syndrome respond well to treatment, become symptom-free and resume normal growth.[5]
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
-
Immune Deficiencies Foundation Australia
PO Box 969
Penrith NSW 2751
Australia
Telephone: 800-100-198
E-mail: [email protected]
Website: https://www.idfa.org.au/ -
International Patient Organization for Primary Immunodeficiencies (IPOPI)
Rock Bottom, Trerieve
Downderry
PL11 3LY
United Kingdom
Telephone: 44-01503-250-668/961
E-mail: [email protected]
Website: https://ipopi.org -
Jeffrey Modell Foundation (JMF)
780 Third Ave
New York, NY 10017
Fax: 212-764-4180
E-mail: [email protected]
Website: https://www.info4pi.org/
JMF is a global patient organization devoted to early and precise diagnosis, meaningful treatments, and ultimately, cures through clinical and basic research, physician education, patient support, advocacy, public awareness and newborn screening.
Organizations Providing General Support
-
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: [email protected]
Website: https://www.piduk.org/
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
- Genetics Home Reference (GHR) contains information on Immunodeficiency with hyper IgM type 1. This website is maintained by the National Library of Medicine.
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.
- The Merck Manual for health care professionals provides information on Immunodeficiency with hyper IgM type 1.
- 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.
The Online Mendelian Inheritance in Man (OMIM)
The Online Mendelian Inheritance in Man (OMIM)
The Online Mendelian Inheritance in Man (OMIM)
The Online Mendelian Inheritance in Man (OMIM)
The Online Mendelian Inheritance in Man (OMIM) - 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 Immunodeficiency with hyper IgM type 1. Click on the link to view a sample search on this topic.
References
- Primary Immunodeficiency. National Institute of Child Health and Human Development (NICHD). April 7, 2008; https://www.nichd.nih.gov/publications/pubs/pages/primary_immuno.aspx#WhatisPrimaryImmunodeficiency.
- Hyper IgM Immunodeficiency Syndrome. MeSH. https://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?mode=&index=24001&field=all&HM=&II=&PA=&form=&input=. Accessed 4/16/2008.
- Hyper IgM Immunodeficiency. Primary Immunodeficiency Resource Center. 2008; https://www.info4pi.org/aboutPI/index.cfm?section=aboutPI&content=syndromes&area=13&CFID=4740438&CFTOKEN=e428d93702237370-4B49B0F6-0023-0F1A-C289B29F1FE43C9A. Accessed 4/16/2008.
- Hyper IgM Syndrome. National Organization for Rare Disorders (NORD). 2002; https://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Hyper%20IgM%20Syndrome. Accessed 4/16/2008.
- Primary Immunodeficiency Diseases: Some Examples. National Institute of Child Health and Human Development (NICHD). April 7, 2008; https://www.nichd.nih.gov/publications/pubs/pages/primary_immuno.aspx. Accessed 4/16/2008.
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