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ALPK1 gene mutations drive autoinflammation with ectodermal dysplasia and progressive vision loss

ALPK1 is a kinase sensing a bacterial metabolite from the LPS biosynthesis pathway. Our favorite clinician describes a new family of patients. This rare monogenic disease associated with vision loss is still poorly known in the field of autoinflammation and this description of a new family of patients should raise awareness on the inflammatory symptoms associated with this disease.

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