Clinical and immunological features of an APLAID patient caused by a novel mutation in PLCG2 .

We present the first case of APLAID with severely reduced myeloid dendritic cells carrying a novel mutation, and conducted a comprehensive analysis of immunological features in the ALPAID patient, which has not been mentioned in previous reports. This study expands the spectrum of APLAID-associated immunophenotype and genotype. The detailed immune analyses in this patient may provide a basis for the development of targeted therapies for this severe autoinflammatory disease.