Response from: Hsien Lei

The PNAS article dates back to 2000....

Response from: ruth

Thanks for pointing it out, Hsien! I mistakenly linked to the previous study made by the same authors. Apparently, the new study is still embargoed (doi: 10.1073/pnas.0603340103). Meanwhile, refer to this report from EurekAlert:
http://www.eurekalert.org/pub_releases/2006-06/hsop-thg062206.php
I've edited the above entry to remove the link.

Response from: tony

Mutations in Sp110 have also been described in association with a combined immunodeficiency and hepatic veno-occlusive disease (VODI). No TB was reported in that cohort of patients. It also of interest that J Med Genet's most recent issue contains a report with the opposite SNP association study results to the PNAS paper.