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Disease Profile
Selective IgM deficiency
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
All ages
ICD-10
D80.4
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)
Selective immunoglobulin M deficiency; SIgMD
Categories
Congenital and Genetic Diseases; Immune System Diseases
Summary
Selective IgM deficiency (SIgMD) is a rare immune disorder in which a person has no immunoglobulin M (IgM)
Symptoms of SIgMD may include repeated viral, bacterial, or fungal infections, such as ear infections, bronchitis, sinusitis, and pneumonia.[1] Infections may be life-threatening.[2] Repeated infections are common in infants with SIgMD.[1][4] In some people, diarrhea or a skin rash is the first symptom.[1] Others do not have symptoms specific to SIgMD and are diagnosed when being evaluated for another condition.[1][4] The diagnosis is made by blood tests showing low or absent IgM and normal levels of other antibodies, as well as diagnosing or ruling out underlying conditions that can cause low levels of IgM.[1]
The cause of SIgMD is still unclear.[1][2][4] SIgMD usually occurs in only one person in a family, but
There are no official treatment recommendations since information about SIgMD is limited.[1] Treatment options depend on the severity of symptoms and whether a person has an associated underlying disease. Treatment may include prompt treatment of infections, taking measures to prevent infections,
Symptoms
Most people with SIgMD, especially infants, have repeated bacterial and viral infections. Common infections in people with SIgMD include ear infections, sinus infections (sinusitis), bronchitis, and pneumonia. Some of these infections can result in sepsis, which can be life-threatening. Other types of infections that have been reported include smallpox and widespread molluscum contagiosum (a common skin condition in children). Children with SIgMD who are sick often may have failure to thrive and malnutrition.[1] Some people with SIgMD have skin rashes, wheezing, or diarrhea.[4]
People with secondary SIgMD usually have too little IgM, rather than none at all. For this reason, their symptoms of SIgMD usually are more mild and may go away if the associated underlying condition improves.[1] Conditions that have been reported in association with SIgMD include:[1]
Cancers such as multiple myeloma, clear cell sarcoma, and lymphocytic leukemias.Blood disorders such as monoclonal gammopathies and immune thrombocytopenia.Autoimmune diseases such as lupus, rheumatoid arthritis, celiac disease, Crohn's disease, and Hashimoto disease.
Cause
Treatment
Measures should be taken to prevent infections whenever possible. Measures that have been recommended include:[1]
- Having all recommended vaccinations.
- Aggressive treatment of allergies such as asthma and allergic rhinitis (nasal allergies).
Prophylactic antibiotics for people who continue to get sick often.- Immune globulin therapy (IVIG) several researchers have reported a reduction in frequency and severity of infections in people with SIgMD treated with IVIG.[2]
People with SIgMD who experience new or different symptoms should be evaluated for an associated underlying disease or condition.[1] Symptoms of SIgMD may improve or go away if an associated disorder is treated or improves.[1]
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
-
American Academy of Allergy Asthma and Immunology (AAAAI)
555 East Wells Street
Suite 1100
Milwaukee, WI 53202-3823
Telephone: (414) 272-6071
Website: https://www.aaaai.org/home.aspx -
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/
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.
In-Depth Information
- 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.
- 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 bibliographic database of biomedical journal literature. This database is maintained by the National Library of Medicine. Click on the link to search PubMed for relevant journal articles. Copy and paste the disease name and/or synonym(s) for your search. Please note that PubMed citations contain summaries but not the full text of the journal articles.
References
- Krishnaswamy G. Selective IgM deficiency. UpToDate. Waltham, MA: UpToDate; July 26, 2017; https://www.uptodate.com/contents/selective-igm-deficiency.
- Gupta S, Gupta A. Selective IgM Deficiency—An Underestimated Primary Immunodeficiency. Front Immunol. September, 2017; 8:Article 1056. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591887/.
- Blood Test: Immunoglobulins (IgA, IgG, IgM). KidsHealth from Nemours. August, 2014; https://kidshealth.org/en/parents/test-immunoglobulins.html.
- Hussain I. Immunoglobulin M Deficiency. Medscape Reference. November 14, 2016; https://emedicine.medscape.com/article/137693-overview.
- Hassanein HA, Elbadry MI. Selective immunoglobulin M deficiency in an adult with miliary tuberculosis: A clinically interesting coexistence. A case report and review of the literature. International Journal of Mycobacteriology. March 2016; 5(1):106-110. https://va8ef7lf8s.search.serialssolutions.com/?sid=Entrez:PubMed&id=pmid:26928000.
- Chovancova Z, Kralickova P, Pejchalova A, Bloomfield M, Nechvatalova J, Vlkova M, Litzman J. Selective IgM Deficiency: Clinical and Laboratory Features of 17 Patients and a Review of the Literature. J Clin Immunol. August, 2017; 37(6):559-574. https://www.ncbi.nlm.nih.gov/pubmed/28730517.
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