title: [Clinical analysis of a Chinese child with leukocyte adhesion deficiency type 1].
abstract: OBJECTIVE
  Leukocyte adhesion deficiency type 1 (LAD-I) is rare. We present 1 case of LAD-I patient diagnosed by gene analysis. His clinical manifestations and genetic mutation features are analyzed in this article.
  
  
  METHODS
  The clinical material of the LAD-I patient who was diagnosed by gene analysis was retrospectively analyzed.
  
  
  RESULTS
  The patient was a 2-month-old boy. He had a complaint of recurrent fever and cough for 30 days. Pulmonary CT indicated a small to moderate quantity pleural effusion on the right side. His peripheral blood leukocyte and C-reactive protein (CRP) was always significantly higher than normal. After hospitalization he had diarrheal diseases, routine stool test showed 2 RBC cells/high power (HP), WBC 30 cells/HP, stool cultures were negative, digestive tract ultrasonography showed an array of defects, in the sigmoid colon and rectal mucosa suggestive of ulcerative colitis. He was treated with cefoperazone and sulbactam and vancomycin. He had a history of impetigo in his neonatal period and without delayed umbilical cord exfoliation. His family history was normal. ITGB2 genetic mutation analysis revealed a homozygous mutation (1062A > T). His parents did not participate in this study. He had no fever but had diarrheal disease after 1 month of follow up.
  
  
  CONCLUSIONS
  This patient had suffered from impetigo, pleural effusion, diarrheal diseases, markedly increased peripheral white blood cell and ITGB2 genetic mutation analysis showed that homozygous mutation (1062A > T). He received a diagnosis of LAD-I.
authors.affiliation: Department of Respiratory Diseases,Beijing Children's Hospital Affiliated to Capital Medical University,Beijing.
authors.forename: Jin-rong
authors.initials: JR
authors.lastname: Liu
authors.forename: Shun-ying
authors.initials: SY
authors.lastname: Zhao
authors.forename: Zai-fang
authors.initials: ZF
authors.lastname: Jiang
mesh_terms: D044466:Asian People; D003093:Colitis, Ulcerative / Q000175:diagnosis / Q000209:etiology; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005434:Flow Cytometry; D006720:Homozygote; D006801:Humans; D007223:Infant; D007958:Leukocyte Count; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D010996:Pleural Effusion / Q000175:diagnosis / Q000209:etiology; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies
chemical_list: D003598:Cytoskeletal Proteins; C492400:ITGB1BP2 protein, human; D009124:Muscle Proteins