When Immunodeficiency & Autoimmunity Coexist

Susan Bernstein is a freelance medical journalist based in Atlanta.

References

U.S. Department of Health and Human Services. National Institutes of Health: Genetic and Rare Diseases Information Center. 2018
Cunningham-Rundles C. Autoimmune manifestations in common variable immunodeficiency. J Clin Immunol. 2008 May;28(Suppl 1):S42–S45.
Rodriguez-Cortez VC, del Pino-Molina L, Rodriguez-Ubreva J, et al. Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naïve-to-memory B cell transition. Nat Commun. 2015 Jun;6:7335.
Barzaghi F, Passerini L, Bacchetta R. Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: A paradigm of immunodeficiency with autoimmunity. Front Immunol. 2012;3;211.

When a patient has both primary immune deficiency and autoimmune disease, the combination can lead to life-threatening complications. Here are some insights into the challenges of diagnosing and treating this rare subset of patients…

Genetic insights into a complex and baffling disease

Common variable immunodeficiency (CVID) is a common primary immunodeficiency disease, with an estimated incidence of one per 25,000–50,000 individuals.1 The classic presentation includes frequent bacterial infections, secondary to dysfunctional B cell differentiation, impaired immunoglobulin production and diminished antibody response. The clinical presentation may be heterogenous and may include granulomatous disease as an uncommon manifestation. Granulomatous…

For young patients especially, this can delay knee replacement and provide better outcomes.

References

When Immunodeficiency & Autoimmunity Coexist

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References

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