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Table 1 Detected variations in the patient with HLH

From: Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report

Gene Position in reference genome hg19/GRCh37 Nucleotide and amino acid change Zygosity (variant allele frequency) ID in dbSNP (population based allele frequencya) Associated featuresb
STXBP2 19:7706933 NM_006949 c.592A > C p.Thr198Pro Heterozygous (0.542) rs760187284 (2/18368, 0.0001089) Fever, Hepato-Splenomegaly (HSMG), HLH, Cytopenias
LYST 1:235973288 NM_001301365 c.830A > T p.His277Leu Heterozygous (0.493) rs1247313496 (2/18288, 0.0001094) Partial albinism, recurrent infections, fever, HSMG, HLH
Giant lysosomes, neutropenia, cytopenias, bleeding tendency, progressive neurological dysfunction
LRBA 4:151827481 NM_006726 c.1570G > A p.Gly524Ser Heterozygous (0.447) rs776254567 (57/19930, 0.002860) Recurrent infections, inflammatory bowel disease, autoimmunity; EBV infections
AIRE 21:45708288 NM_00383 c.599C > T p.Pro200Leu Heterozygous (0.496) rs140196414 (9/19942, 0.0004513) Autoimmunity: hypoparathyroidism hypothyroidism, adrenal insufficiency, diabetes, gonadal dysfunction and other endocrine abnormalities, chronic mucocutaneous candidiasis, dental enamel hypoplasia, alopecia areata
Enteropathy, pernicious anemia
IRF8 16:85942708 NM_002163 c.287C > T p.Thr96Met Heterozygous (0.457) rs145048966 (0/19954, 0.000) Susceptibility to Mycobacteria
  1. a “population based allele frequency” is east Asian population based allele frequency based on gnomAD (
  2. b “Associated features” is based on the classification of primary immunodeficiencies compiled by the Primary Immunodeficiency Expert Committee (PID EC) of the International Union of Immunological Societies (IUIS) [22, 23]