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Disease Profile

Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

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

Adult

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ICD-10

D84.8

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)

Acquired adult-onset immunodeficiency; Anti-IFN-gamma autoantibody syndrome; Adult-Onset Immunodeficiency with Acquired Anti-Interferon-Gamma Autoantibodies;

Categories

Immune System Diseases

Summary

Adult-onset immunodeficiency with antiinterferon-gamma autoantibodies is an immunodeficiency disorder. It is associated with susceptibility to disseminated infections (dispersed throughout the body) caused by organisms that typically affect only people with weak immune systems (opportunistic pathogens).[1] People with this disorder produce higher amounts of anti-interferon-gamma autoantibodies. These are specific immune system proteins that mistakenly target a person's own tissues. It is predominantly reported in Southeast Asians who were previously healthy.[1][2] The age of onset is usually around 30-50 years.[1][3] Pathogens that cause infections in people with this disorder may include non-tuberculous mycobacteria, non-typhoidal salmonella, cytomegalovirus, Penicillium marneffei, and varicella zoster virus.[3] Symptoms depend on the infection(s) present in each person.

The cause of developing anti-interferon-gamma autoantibodies is unclear, but genetic factors are suspected to be involved.[2] Studies have suggested an association with certain HLA genes.[2] These genes help the immune system distinguish between the body's own proteins and those made by foreign invaders.[4] Some have suggested that an infection may initially trigger the production of autoantibodies, and repeated infections lead to their increased activity.[3]

There is currently no standard therapy and treatment depends on the infection(s) present. Therapies used in the past have included long-term antimicrobial therapy (such as antibiotics or antifungals) and rituximab therapy. Multiple therapies at once may be needed.[5][6][7][8]

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

    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.

      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 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies. Click on the link to view a sample search on this topic.

        References

        1. Chan JF, Trendell-Smith NJ, Chan JC, Hung IF, Tang BS, Cheng VC, Yeung CK, Yuen KY. Reactive and infective dermatoses associated with adult-onset immunodeficiency due to anti-interferon-gamma autoantibody: Sweet's syndrome and beyond. Dermatology. 2013; 226(2):157-166. https://www.ncbi.nlm.nih.gov/pubmed/23652167.
        2. Pithukpakorn M, Roothumnong E, Angkasekwinai N, Suktitipat B, Assawamakin A, Luangwedchakarn V, Umrod P, Thongnoppakhun W, Foongladda S, Suputtamongkol Y. HLA-DRB1 and HLA-DQB1 Are Associated with Adult-Onset Immunodeficiency with Acquired Anti-Interferon-Gamma Autoantibodies. PLoS One. May 26, 2015; 10(5):https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444022/.
        3. Pruetpongpun N, Khawcharoenporn T, Damronglerd P, Suthiwartnarueput W, Apisarnthanarak A, Rujanavej S, Suwantarat N. Disseminated Talaromyces marneffei and Mycobacterium abscessus in a Patient With Anti-Interferon-? Autoantibodies. Open Forum Infect Dis. May 10, 2016; 3(2):https://academic.oup.com/ofid/article/3/2/ofw093/2399422/Disseminated-Talaromyces-marneffei-and.
        4. Human leukocyte antigens. Genetics Home Reference. February, 2009; https://ghr.nlm.nih.gov/primer/genefamily/hla.
        5. Kampitak T, Suwanpimolkul G, Browne S, Suankratay C. Anti-interferon-? autoantibody and opportunistic infections: case series and review of the literature. Infection. February, 2011; 39(1):65-71.
        6. Czaja CA, Merkel PA, Chan ED, Lenz LL, Wolf ML, Alam R, Frankel SK, Fischer A, Gogate S, Perez-Velez CM, Knight V. Rituximab as successful adjunct treatment in a patient with disseminated nontuberculous mycobacterial infection due to acquired anti-interferon-? autoantibody. Clin Infect Dis. March, 2014; 58(6):
        7. Browne SK et al. Anti-CD20 (rituximab) therapy for anti–IFN-? autoantibody–associated nontuberculous mycobacterial infection. Blood. April, 2012; 119(17):3933-3939. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350360/.
        8. Chi CY1, Lin CH, Ho MW, Ding JY et al. Clinical manifestations, course, and outcome of patients with neutralizing anti-interferon-? autoantibodies and disseminated nontuberculous mycobacterial infections. Medicine (Baltimore). June, 2016; 95(25):https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4998320/.