DNA Mutational Analysis ; Diagnosis, Differential ; Humans ; Lymphohistiocytosis, Hemophagocytic ; diagnosis ; genetics ; therapy ; Mutation ; genetics ; Perforin ; Pore Forming Cytotoxic Proteins ; genetics ; Qa-SNARE Proteins ; genetics

The study was aimed to investigate the etiology and the clinical characteristics of patients with hemophagocytic syndrome. The clinical data of 38 patients with hemophagocytic syndrome were retrospectively analyzed, and prf1 and stx11 were detected for the mutational analysis. The results showed that 38 cases were diagnosed as hemophagocytic syndrome, including 1 case of familial hemophagocytic lymphohistiocytosis (FHL), 14 cases associated with infectious disease (36.84%), 10 cases with malignancies (26.32%), 7 cases with rheumatic disease (18.42%), other 6 cases of unknown etiology (15.79%). 9 out of 38 cases died with mortality of 23.68%, including 4 cases associated with infectious disease, 2 cases with malignancies, 1 case with rheumatic disease, and 2 cases of unknown etiology. One case was found to have prf1 mutation, and was diagnosed as FHL at last. It is concluded that the causes of HPS are diverse, different etiology results in different outcome. It is important to find etiology when HPS is diagnosed, and prf1 and stx11 genetic analysis plays a important role in the diagnosis of FHL.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; DNA Mutational Analysis ; Exons ; Female ; Humans ; Lymphohistiocytosis, Hemophagocytic ; etiology ; genetics ; Male ; Middle Aged ; Perforin ; Pore Forming Cytotoxic Proteins ; genetics ; Qa-SNARE Proteins ; genetics ; Retrospective Studies ; Young Adult

We report the first Far Eastern case of a Korean child with familial hemophagocytic lymphohistiocytosis (HLH) caused by a novel syntaxin 11 (STX11) mutation. A 33-month-old boy born to non-consanguineous Korean parents was admitted for intermittent fever lasting one week, pancytopenia, hepatosplenomegaly, and HLH in the bone marrow. Under the impression of HLH, genetic study revealed a novel homozygous missense mutation of STX11: c.650T>C, p.Leu217Pro. Although no large deletion or allele drop was identified, genotype analysis demonstrated that the homozygous c.650T>C may have resulted from the duplication of a maternal (unimaternal) chromosomal region and concurrent loss of the other paternal allele, likely caused by meiotic errors such as two crossover events. A cumulative study of such novel mutations and their effects on specific protein interactions may deepen the understanding of how abnormal STX1 expression results in deficient cytotoxic function.
Alleles ; Amino Acid Sequence ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; Bone Marrow/metabolism ; Child, Preschool ; Comparative Genomic Hybridization ; DNA Mutational Analysis ; Genotype ; Haplotypes ; Homozygote ; Humans ; Lymphohistiocytosis, Hemophagocytic/*genetics/pathology ; Male ; Molecular Sequence Data ; Mutation, Missense ; Pedigree ; Qa-SNARE Proteins/*genetics ; Republic of Korea ; Sequence Alignment