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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 (http://gnomad-old.broadinstitute.org)
  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]
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BMC Medical Genetics

ISSN: 1471-2350

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