When Autoimmune Diseases hide human inborn errors of immunity

AUTORI

ABSTRACT

Autoimmune diseases are increasingly prevalent, often resulting from a complex interplay of genetic and environmental factors. Distinguishing between classical autoimmune disorders and primary immune regulatory disorders (PIRDs), a subgroup of human inborn errors of immunity (HIEI), can be challenging due to overlapping clinical features. We hereby report the case of a 32-year-old Caucasian male diagnosed with IgG4-related disease (IgG4-RD), Hashimoto’s thyroiditis, and Autoimmune Lymphoproliferative Syndrome (ALPS), a HIEI characterized by defective lymphocyte apoptosis, lymphoproliferation, and autoimmunity. While most HIEI diagnoses occur in childhood, adult-onset presentations and co-occurring autoimmune conditions can obscure the clinical picture. Thorough patient history review, comprehensive laboratory workups and genetic testing are crucial for accurate diagnosis.

BIBLIOGRAFIA

1. Oliveira JB, Bleesing JJ, Dianzani U, Fleisher TA, Jaffe ES, Lenardo MJ, et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood 2010;116:e35-e40.
2. Gray PE, David C. Inborn Errors of Immunity and Autoimmune Disease. J Allergy Clin Immunol Pract 2023;11: 1602-22.
3. Miller F.W. The increasing prevalence of autoimmunity and autoimmune diseases: an urgent call to action for improved understanding, diagnosis, treatment, and prevention. Curr Opin Immunol 2023;80:102266.
4. Schmidt RE, Grimbacher B, Witte T. Autoimmunity and primary immunodeficiency: two sides of the same coin? Nat Rev Rheumatol 2018;14:7-18.
5. Rieux-Laucat, F. What’s up in the ALPS. Curr Opin Immunol 2017;49:79-86.
6. Rieux-Laucat F, Kanellopoulos JM, Ojcius DM. Scaling the tips of the ALPS. Biomed J 2021;44:383-7.
7. Padron GT, Hernandez-Trujillo VP. Autoimmunity in Primary Immunodeficiencies (PID). Clin Rev Allergy Immunol 2022;65:1-8.
8. Seidel MG. Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment. Blood 2014;124:2337-44.
9. Stassi G, Zeuner A, Di Liberto D, Todaro M, Ricci-Vitiani L, De Maria R. Fas-FasL in Hashimoto’s thyroiditis. J Clin Immunol 2001;21:19-23.
10. Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM et al. Human inborn errors of immunity: 2022 update on the classification from the international union of immunological societies expert committee. J Clin Immunol. 2022;42:1473-07.
11. Oliveira JB, Fleisher TA. Laboratory evaluation of primary immunodeficiencies. J Allergy Clin Immunol 2010;125 Suppl 2:S297-305.