Rare Rheumatology News

Disease Profile

IgG4-related dacryoadenitis and sialadenitis

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

All ages

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ICD-10

K11.8

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)

Mikulicz's disease (former); Mikulicz disease (former); Mikulicz syndrome (former);

Categories

Ear, Nose, and Throat Diseases

Summary

IgG4-related dacryoadenitis and sialoadenitis (formerly called Mikulicz disease) is an IgG4-related disease characterized by inflammation of the lacrimal glands (which produce tears), parotid glands, and submandibular glands (two of the major salivary glands).[1] In some cases, it also affects other glands or organs.[1][2] The condition is usually painless, mainly causing mouth and eye dryness, and swelling over the affected glands.[1][2] When other organs are affected, it can be accompanied by complications such as autoimmune pancreatitis, retroperitoneal fibrosis, and tubulointerstitial nephritis.[1] The underlying cause of IgG4-related disease is still not known.[3] Treatment involves corticosteroids, which are usually effective.[4][2] Medicines that suppress the immune system (immunosuppressants) may also be used in cases that do not respond to corticosteroids.[4][2]

IgG4-related dacryoadenitis and sialoadenitis was previously considered a subtype of Sjogren syndrome, but it is now known to be a distinct condition.[2]

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.

Social Networking Websites

    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 New Zealand is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
      • 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.
        • 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 IgG4-related dacryoadenitis and sialadenitis. Click on the link to view a sample search on this topic.

          References

          1. IgG4-related dacryoadenitis and sialadenitis. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79078. Accessed 9/20/2017.
          2. Takano K, Yamamoto M, Takahashi H, Himi T. Recent advances in knowledge regarding the head and neck manifestations of IgG4-related disease. Auris Nasus Larynx. February, 2017; 44(1):7-17. https://www.sciencedirect.com/science/article/pii/S0385814616303285.
          3. Kamekura R, Takano K, Yamamoto M, et al. Cutting Edge: A Critical Role of Lesional T Follicular Helper Cells in the Pathogenesis of IgG4-Related Disease. J Immunol. September 15, 2017; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/28916523.
          4. Pieringer H, Parzer I, Wöhrer A, Reis P, Oppl B, and Zwerina J. IgG4related disease: an orphan disease with many faces. Orphanet J Rare Dis. 2014; 9:110:https://ojrd.biomedcentral.com/articles/10.1186/s13023-014-0110-z.