Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

“…Pearl mice thus represent the first mouse model for transient HLH, represented by a disease course that can also be observed in FHL patients with milder cytotoxicity defects as the result of hypomorphic mutations. 49,50 The recovery of these mice from HLH after the virus is controlled indicates that the pathogenic uncontrolled immune response inducing HLH is not autonomous but that continuous antigen stimulation is a key factor in the maintenance of the disease. This finding was also reflected by a more detailed analysis of disease-inducing LCMV-specific T cells.…”

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production

“…PRF1, UNC13D, STX11, and STXBP2 were sequenced as described previously. 32 Primers, PCR conditions, and sequencing reaction conditions are available on request.…”

Development of classical Hodgkin's lymphoma in an adult with biallelic STXBP2 mutations

“…due to non-coding aberrations. 25 In this setting, reproducible defects in cytotoxic lymphocyte function also may warrant HSCT.…”