In a study of 10 patients with XIAP (X-linked inhibitor of apoptosis) deficiency caused by BIRC4 mutations, Marsh et al have showed that nine of 10 patients developed hemophagocytic lymphohistiocytosis by age 8 years and none of the patients developed any lymphoma. This is in contrast to patients with X-linked lymphoproliferative disease phenotypes caused by SLAM-associated Protein deficiency.

The enzyme sialic acid acetylesterase (SIAE) is involved in immunological tolerance in mice through its role as a negative regulator of B-cell antigen receptor signaling. A group of investigators showed, using a sequencing approach, that certain rare germline mutations in the enzyme are responsible for various autoimmune diseases in humans.

The crystal structure of POLH, as elucidated by Silverstein et al, showed that unlike other DNA polymerases, POLH has a big enough active site cleft that can accommodate thymidine dimers caused by ultraviolet radiations. This allows for error-free replication and prevents skin cancers. Inactivation of POLH causes XPV, a variant of Xeroderma pigmentosum in which multiple skin cancer develop.

A study by Yu Chen et al showed that stimulation of the formyl peptide receptors (FPR) on neutrophils by bacterial products and other inflammatory mediators led to the release of ATP through pannexin-1 (panx1) hemichannels in cell membranes. The FPRs associate with P2Y2 nucleotide receptors and thus form a purinergic signaling system.