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. The gene discussed is DIAPH1; the disease is Immunodeficiency.