bims-actimu
Biomed News
on Actinopathies in inborn errors of immunity
Issue of
2026–03–15
one paper selected by
Elodie Busch,
University of Strasbourg
Characterisation of a Leaky Splice-Site Mutation Associated with Phenotypic Diversity in Two Unrelated Patients with ARPC1B Deficiency.
J Clin Immunol. 2026 Mar 07.
Characterisation of a Leaky Splice-Site Mutation Associated with Phenotypic Diversity in Two Unrelated Patients with ARPC1B Deficiency.
Alex Quach
,
Jovanka King
,
Trishni Putty
,
Michael Gold
,
Patrick Quinn
,
Antonio Ferrante
.
Keywords:
ARPC1B; Arp2/3 complex; Immunodeficiency; Inborn error; Leaky splicing
DOI:
https://doi.org/10.1007/s10875-026-02002-4