Associated Papers
Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.
Steen EA et al.
Frontiers in Immunology, 2021
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
Zhang K et al.
Blood, 2011
Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects.
Zhang K et al.
International Journal of Immunogenetics, 2007
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