title: Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations.
abstract: OBJECTIVE
  Leukocyte adhesion deficiency type-I (LAD-I) is caused by mutations in the ITGB2 gene, encoding the β2-subunit of β2-integrin (CD18) which leads to markedly reduced expression of CD18 on leukocytes resulting into recurrent life threatening infections. Here we aim to identify the molecular defects underlying LAD-I in Indian patients and correlate with the clinical presentation.
  
  
  METHODS
  Blood was collected from 30 patients and their parents for absolute neutrophil count, expression of CD18 and CD11 by flow cytometry and DNA extraction. PCR and DNA sequencing of the ITGB2 gene was done for mutation characterization.
  
  
  RESULTS
  Phenotypically, 22 patients were LAD-I(0), 1 was LAD-I(-) and 7 were LAD-I(+) showing no expression and reduced expression of CD18 respectively. Nine novel mutations in 15 patients and 11 known mutations in 16 patients were detected. Prenatal diagnosis was performed for 5 families.
  
  
  CONCLUSIONS
  In this study 30 patients were phenotypically and genotypically evaluated for a less known disease LAD-I. Unavailability of curative options to majority of the patients and high cost of supportive care emphasize the need to increase awareness about a suspicious case so that timely management can be given to the patient and prenatal diagnosis can be offered to their families.
authors.affiliation: National Institute of Immunohaematology, 13th Floor, New M.S.B., K.E.M. Hospital Campus, Parel, Mumbai 400 012, India. Electronic address: madkaikarm@icmr.org.in.
authors.forename: Manisha
authors.initials: M
authors.lastname: Madkaikar
authors.affiliation: National Institute of Immunohaematology, 13th Floor, New M.S.B., K.E.M. Hospital Campus, Parel, Mumbai 400 012, India. Electronic address: kyitalia4@gmail.com.
authors.forename: Khushnooma
authors.initials: K
authors.lastname: Italia
authors.affiliation: National Institute of Immunohaematology, 13th Floor, New M.S.B., K.E.M. Hospital Campus, Parel, Mumbai 400 012, India. Electronic address: maya_rk@rediffmail.com.
authors.forename: Maya
authors.initials: M
authors.lastname: Gupta
authors.affiliation: National Institute of Immunohaematology, 13th Floor, New M.S.B., K.E.M. Hospital Campus, Parel, Mumbai 400 012, India. Electronic address: sushant2880@yahoo.com.
authors.forename: Sushant
authors.initials: S
authors.lastname: Chavan
authors.affiliation: National Institute of Immunohaematology, 13th Floor, New M.S.B., K.E.M. Hospital Campus, Parel, Mumbai 400 012, India. Electronic address: anjusachinmishra@gmail.com.
authors.forename: Anju
authors.initials: A
authors.lastname: Mishra
authors.affiliation: National Institute of Immunohaematology, 13th Floor, New M.S.B., K.E.M. Hospital Campus, Parel, Mumbai 400 012, India. Electronic address: meghanarao29@gmail.com.
authors.forename: Meghna
authors.initials: M
authors.lastname: Rao
authors.affiliation: National Institute of Immunohaematology, 13th Floor, New M.S.B., K.E.M. Hospital Campus, Parel, Mumbai 400 012, India. Electronic address: snehalrm@gmail.com.
authors.forename: Snehal
authors.initials: S
authors.lastname: Mhatre
authors.affiliation: Bai Jerbai Wadia Hospital, Parel, Mumbai 400 012, India. Electronic address: mmdesai007@gmail.com.
authors.forename: Mukesh
authors.initials: M
authors.lastname: Desai
authors.affiliation: Lokmanya Tilak Municipal General Hospital, Dr Ambedkar Rd, Sion, Mumbai 400 022, India. Electronic address: mmanglani@hotmail.com.
authors.forename: Mamta
authors.initials: M
authors.lastname: Manglani
authors.affiliation: Post Graduate Institute of Medical Education and Research, Chandigarh, India. Electronic address: surjitsinghpgi@hotmail.com.
authors.forename: Surjit
authors.initials: S
authors.lastname: Singh
authors.affiliation: Post Graduate Institute of Medical Education and Research, Chandigarh, India. Electronic address: surideepti@gmail.com.
authors.forename: Deepti
authors.initials: D
authors.lastname: Suri
authors.affiliation: Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, India. Electronic address: aaamita@gmail.com.
authors.forename: Amita
authors.initials: A
authors.lastname: Agrawal
authors.affiliation: National Institute of Immunohaematology, 13th Floor, New M.S.B., K.E.M. Hospital Campus, Parel, Mumbai 400 012, India. Electronic address: kanjakshaghosh@hotmail.com.
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
mesh_terms: D018821:CD18 Antigens / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007194:India; D007223:Infant; D007231:Infant, Newborn; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000175:diagnosis / Q000235:genetics*; D007962:Leukocytes / Q000378:metabolism / Q000473:pathology; D008297:Male; D009154:Mutation; D011296:Prenatal Diagnosis; D044465:White People / Q000235:genetics
chemical_list: D018821:CD18 Antigens
keywords: CD18; Flow cytometry; ITGB2 gene; LAD-1; Prenatal diagnosis; β(2) integrin