Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Mutations of the hemophagocytic lymphohistiocytosis–associated gene <i>UNC13D</i> in a patient with systemic juvenile idiopathic arthritis2008 · 112 citations
2. 2Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions2005 · 140 citations
3. 3Hemophagocytic lymphohistiocytosis due to germline mutations inSH2D1A, the X-linked lymphoproliferative disease gene2001 · 161 citations
4. 4Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carryingPRF1 mutations2002 · 187 citations
5. 5A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis2005 · 112 citations