MYD88

Genetic findings for MYD88 in Schnitzler Syndrome

Variants (1)

VariantTypeFrequencySignificance
L265P (somatic)somatic~30% of tested patientsThe most significant genetic finding. Same mutation found in >90% of Waldenström's macroglobulinemia. Drives persistent NF-κB activation.

Clinical implications

L265P (somatic)

Supports shared pathogenic mechanism with WM. May predict response to ibrutinib.

Also found in: Waldenström's macroglobulinemia (>90%)

Related molecules

MYD88moderate

TLR signalling adaptor — L265P in ~30%

Related hypotheses

Shared MYD88/NF-κB mechanism drives both autoinflammation and B-cell clonality

55
leading·48 studies

NLRP3 somatic mosaicism is the primary driver in a subset of patients

20
emerging·8 studies

Pyrin-inflammasome dysfunction (MEFV variants) contributes to pathogenesis

15
emerging·4 studies

Sources (2)

C4Pathak S et al. (2019) MYD88 L265P in 30% of Schnitzler patients · Mol MedPubMed ↗
B7Van Leersum FS et al. (2019) Shared MYD88/NF-κB mechanism hypothesis · Orphanet J Rare DisDOI ↗