Jérémie Rosain - research works

We studied an international cohort of 85 unvaccinated SARS-CoV-2-infected MG patients not given antiviral treatment.

Six (16.2%) of the remaining 37 patients had AAN-I-IFN, neutralizing both IFN-α2 and IFN-ω in three patients.

The risk of producing AAN-I-IFN was much higher in MG patients than in the general population (OR [95% CI]: 28.9 [10.8 to 77.7], P = 4.9 × 10 -27 ).

Thymoma was found in 14 patients and increased the risk of AAN-I-IFN (64% versus 27%, (OR [95% CI]: 5.6 [1.6 to 19.4], P = 0.0050) and hypoxemic pneumonia (9.2 [1.9 to 44.2]; P = 0.0019).

All dedicator of cytokinesis-8 (DOCK8)-deficient patients were affected, followed by Forkhead box-P3 (FOXP3)-deficient patients (73.3%), and those with signal transducer and activator of transcription-1-loss-of-function (STAT3-LoF; 74.6%).

Onset was usually early (median: 4 months).

Eczema frequency and clinical presentation varied markedly across IEIs-A genotypes; four phenotypic clusters were identified, with particular localizations and severe pruritus being strongly associated with pathogenic STAT3 or DOCK8 variants.

Of the 10,004 patients in the CEREDIH registry, 149 were identified with at least one episode of parasitic infection (≈1.4%).

The male-to-female ratio was 1.92 and the mean age at onset of cryptosporidiosis was 16.6±17.5 years.