Rare Pediatrics News

Disease Profile

IgG4-related disease

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.


US Estimated

Europe Estimated

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.


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.


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)

IgG4-related systemic disease; IgG4-syndrome; IgG4-associated disease;


IgG4-related disease is an immune-mediated condition that can affect multiple organ systems.[1][2][3][4] Common features include IgG4-related autoimmune pancreatitis, swelling of or within an organ system (an inflammatory pseudotumor), salivary gland disease (which can lead to enlargement of the salivary glands), swollen lymph nodes (lymphadenopathy), skin manifestations, and symptoms consistent with allergies or asthma. The cause of IgG4-related disease is unknown. Some researchers believe that it may be an autoimmune or allergic disorder.[1][2] IgG4-related disease is usually treated with systemic steroids like prednisone. Immunosuppressive medications (azathioprine or mycophenolate mofetil) and biologics (rituximab or bortezomib) may be used in those who don't respond to steroids or for longer-term management. In severe cases, organ replacement therapy may be needed.[1][2][3][4]

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.

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 searchable database of medical literature and lists journal articles that discuss IgG4-related disease . Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles


  1. Yung A. IgG4-related disease. DermNet NZ. October 4, 2015; https://www.dermnetnz.org/systemic/igg4-disease.html.
  2. Moulsopoulos HM, Fragoulis GE, Stone JH. Overview of IgG4-related disease. UpToDate. January 4, 2016; https://www.uptodate.com/contents/overview-of-igg4-related-disease.
  3. Stone JH. Treatment Approaches to IgG4-related Systemic Disease. Current Opinion in Rheumatology. 2011; 23(1):67-71. https://www.medscape.com/viewarticle/733608.
  4. Khosroshahi A et al.. International Consensus Guidance Statement on the Management and Treatment of IgG4-Related Disease. Arthritis & Rheumatology. July 2015; 67(7):1688-1699. https://onlinelibrary.wiley.com/doi/10.1002/art.39132/epdf.