[anatnom]

The paper's supplementary materials (available from [0]) include an extended case report, which seems pretty interesting.

> [After doing a gene sequence of the patient, we] identified no structural and sequence variants in genes known to be associated with [systemic lupus erythematosus] or diseases of immune dysregulation. However, we detected a [single allele mutation] of unknown significance in [the patient] and her father who had not yet come to medical attention.

The paper seems to be a deep-dive into exploring whether this single mutation is sufficient to explain the micro-characteristics of lupus and concludes that it does.

Given that this mutation was not documented in any public or intra-institution databases, I would expect that this is NOT an explanation for all cases of lupus. It's possible that, like many other genetic- and developmentally-linked disorders, lupus is a cloud of similar outcomes due to many different aberrations.

The biochemistry in the supplementary materials goes WAY over my limited knowledge, but it appears that the researchers went from "this is a weird DNA sequence" to actually manufacturing and testing the (incorrect) proteins in order to conclude that this patient's case of lupus is due to this single mutation. That seems like absolute wizardry. (But I'm also an outsider extrapolating from the linked article and the supplementary materials of the paper.)

[0] https://www.science.org/doi/10.1126/sciimmunol.adi9575?url_v...