title: Leukocyte Adhesion Deficiency-I: Clinical and Molecular Characterization in an Indian Population.
abstract: OBJECTIVE
  To describe clinical and flow cytometric immunophenotyping details of 26 patients of Leukocyte adhesion deficiency-I (LAD-I) along with molecular characterization of 7 patients.
  
  
  METHODS
  Diagnosis of LAD-I was suspected on the basis of clinical features, white blood cell count and absolute neutrophil counts and flow cytometric assessment of expression of CD18 and CD11(a, b, c) on leukocytes. Mutation analysis was performed using DNA PCR and conformation sensitive gel electrophoresis (CSGE) technique followed by sequencing.
  
  
  RESULTS
  All the patients were symptomatic by the age of 6 mo, with history of recurrent bacterial infections involving skin, mucosa or umbilical cord (omphalitis) being the most frequent presenting symptoms. White blood cells (WBC) and absolute neutrophil counts (ANC) were markedly elevated, without any specific morphological findings. On flow cytometry, CD11a and CD11c showed moderate correlation with CD18 expression. Mutation analysis was performed in 7 patients and six different mutations (4 missense, 2 nonsense and 1 splice site) were identified, all of which were homozygous in nature.
  
  
  CONCLUSIONS
  A presentation of repeated bacterial infections during infancy, especially omphalitis, with markedly elevated absolute neutrophil counts should trigger investigations for LAD-I including flow cytometric analysis of CD11/CD18 expression.
authors.affiliation: Department of Hematology, Christian Medical College, Vellore, 632004, Tamil Nadu, India.
authors.forename: Prashant
authors.initials: P
authors.lastname: Deshpande
authors.affiliation: Department of Hematology, Christian Medical College, Vellore, 632004, Tamil Nadu, India.
authors.forename: Kotteeswari
authors.initials: K
authors.lastname: Kathirvel
authors.affiliation: Department of Hematology, Christian Medical College, Vellore, 632004, Tamil Nadu, India.
authors.forename: Ansu Abu
authors.initials: AA
authors.lastname: Alex
authors.affiliation: Department of Hematology, Christian Medical College, Vellore, 632004, Tamil Nadu, India.
authors.forename: Anu
authors.initials: A
authors.lastname: Korula
authors.affiliation: Department of Hematology, Christian Medical College, Vellore, 632004, Tamil Nadu, India.
authors.forename: Biju
authors.initials: B
authors.lastname: George
authors.affiliation: Department of Hematology, Christian Medical College, Vellore, 632004, Tamil Nadu, India.
authors.forename: R V
authors.initials: RV
authors.lastname: Shaji
authors.affiliation: Department of Hematology, Christian Medical College, Vellore, 632004, Tamil Nadu, India. vikram@cmcvellore.ac.in.
authors.forename: Vikram
authors.initials: V
authors.lastname: Mathews
mesh_terms: D001424:Bacterial Infections; D018821:CD18 Antigens; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006720:Homozygote; D006801:Humans; D007194:India; D007223:Infant; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D007962:Leukocytes
chemical_list: D018821:CD18 Antigens
keywords: CD11/CD18; Flow cytometry; ITGB2 immunodeficiency; Leukocyte adhesion