Answers are grounded in this paper and cite their sources.
Multiple presumable autoimmune manifestations, in particular hypoparathyroidism, CMC, and enamel hypoplasia, should prompt further diagnostic workup using autoantibody analyses (eg, interferon-ω) and AIRE sequencing to reveal APS1, even in adults. Treatment is complicated, and mortality is high. Structured follow-up should be performed in a specialized center.
No takes yet. Share an insight, caveat, or question.
Bruserud et al. (2016) studied this question.
Synapse has enriched 5 related papers. Consider them for comparative context: