Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.

Background: Telomeres inhibit DNA damage response at the ends of the chromosome to suppress cell cycle arrest as well as ensure genome stability. Dyskeratosis congenita (DC), a telomere-related disease, includes the classical triad involving oral leukoplakia, dysplastic nails, and lacy reticular pigment in the neck and/or upper chest. Hoyeraal-Hreidarrson syndrome (HHS), a severe manifestation of DC, frequently occurs during childhood, and patients with HHS often show short-term survival and thus do not exhibit all mucocutaneous manifestations or syndromic features.

The novel HLA-A*02:1075 allele, identified by Sanger dideoxy nucleotide sequencing in a Chinese individual.

HLA-A*02:1075 differs from HLA-A*02:07:01:01 by one nucleotide in exon 5.

[Expression of CD 86 on monocyte and B cell surface, the level of T(H)-derived cytokine and their correlation in children with asthma].

Objective: To explore the role of T lymphocytes activation co-stimulation pathway and T lymphocyte subset activation in asthma pathogenesis.

Methods: The blood samples were taken from 35 asthma children (including 22 male and 13 female, age 11 months-9 years) and 31 normal children (including 19 male and 12 female, age 8 months-12 years). Direct immunofluorescence flow cytometry was used to detect the CD86 mean fluorescence intensity (MFI) on CD(14)(+) cell, CD(19)(+) cell percentage and CD19 and CD86 double positive cell percentage in PBMC activated by LPS.