DIAPH1 and immunodeficiency disease: In the only report to have linked homozygous DIAPH1 loss with SCBMS and immunodeficiency, Kaustio et al. described five Finnish patients homozygous for the NM_005219:c.68411 G > A splice-variant and two Omani patients with the NM_005219:c.2769delT; p.F923fs frameshift-variant.