title: [Clinical and gene research of X-linked lymphoproliferative disease in a Chinese family].
abstract: OBJECTIVE
  To verify the pathogenesis in Chinese and to investigate the genetic rule of X-linked lymphoproliferative disease (XLP) therein.
  
  
  METHODS
  The case history of a proband of XLP, male, aged 1 year and 5 months, who died 40 days after hospitalization, was reviewed. Fourteen his family members were interviewed for the development history, anamnesis, and underwent physical examination. Single-strand conformation polymorphism (SSCP-PCR) and sequencing were used to detect the SH2D1A mutation among the elder sister, younger brother, and parents of the poband.
  
  
  RESULTS
  The proband and his elder brother suffered with virus-associated hemophagocytic syndrome and both died in 40 days after the disease coming on in the last two years in succession. The second exon of SH2D1A of the younger brother of the proband showed a nonsense mutation in SH2D1A gene: the C-T nucleotide substitution at nucleotide position 462 result in a stop codon and pre-mature termination of protein synthesis. The mother was proved as mutation heterozygote of the C and T nucleotide on the same site. The other members of the family were proved normal. The clinical manifestation of the younger brother of the proband was Langerhans cell histiocytosis.
  
  
  CONCLUSIONS
  Langerhans cell histiocytosis may be a new clinical phenotype of XLP. The gene of SH2D1A is responsible for the disease of XLP in Chinese too. The newly developed method of SH2D1A mutation analysis may be suitable in the diagnosis of XLP in Chinese.
authors.affiliation: Department of Pediatrics, Zhujiang Hospital Affiliated to Southern Medical University, Guangzhou 510280, China.
authors.forename: De-xin
authors.initials: DX
authors.lastname: Zhu
authors.forename: Jiang
authors.initials: J
authors.lastname: Du
authors.forename: He-kui
authors.initials: HK
authors.lastname: Lan
authors.forename: Li
authors.initials: L
authors.lastname: Yu
authors.forename: Zhi-chun
authors.initials: ZC
authors.lastname: Feng
mesh_terms: D015703:Antigens, CD / Q000032:analysis; D015214:Antigens, Differentiation, Myelomonocytic / Q000032:analysis; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008232:Lymphoproliferative Disorders / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012189:Retrospective Studies; D009418:S100 Proteins / Q000032:analysis; D012689:Sequence Homology, Nucleic Acid; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D018909:src Homology Domains / Q000235:genetics; D000097382:CD68 Molecule
chemical_list: D015703:Antigens, CD; D015214:Antigens, Differentiation, Myelomonocytic; D047908:Intracellular Signaling Peptides and Proteins; D009418:S100 Proteins; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; C067980:CD68 antigen, human; D000097382:CD68 Molecule; C114953:SH2D1A protein, human