title: Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature.
abstract: BACKGROUND
  Leukocyte adhesion deficiency (LAD) is a group of rare inherited disorders characterized by immune deficiency and peripheral neutrophilia. There are only seven reported cases of LAD type II worldwide, and no long-term follow-up data.
  
  
  METHODS
  We reviewed the medical file of a 20-year-old man with LAD II. Clinical characteristics included short stature, severe mental retardation, and autistic features. He had had no severe infections since infancy, and his current immunological status was stable. The last laboratory work-up revealed mild leukocytosis and neutrophilia. Genetic analysis of the Golgi GDP-fucose transporter (GFTP) sequence yielded a point mutation resulting in Y337C amino acid transition in the tenth transmembrane domain.
  
  
  CONCLUSIONS
  In conclusion, in LAD II, the main clinical countenance shifts from frequent infections due to immunodeficiency in the early years to the metabolic consequences of the defect in fucose metabolism, i.e., retarded growth and mental retardation, in the later years. A novel mutation in the GFTP loci associated with LAD II is described.
authors.affiliation: Kipper Institute of Allergy and Immunology, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.
authors.forename: Yael
authors.initials: Y
authors.lastname: Gazit
authors.forename: Adi
authors.initials: A
authors.lastname: Mory
authors.forename: Amos
authors.initials: A
authors.lastname: Etzioni
authors.forename: Moshe
authors.initials: M
authors.lastname: Frydman
authors.forename: Oded
authors.initials: O
authors.lastname: Scheuerman
authors.forename: Ruth
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: Ben-Zion
authors.initials: BZ
authors.lastname: Garty
mesh_terms: D000328:Adult; D001321:Autistic Disorder; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005317:Fetal Growth Retardation; D020022:Genetic Predisposition to Disease; D006801:Humans; D008607:Intellectual Disability; D007557:Israel; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009504:Neutrophils / Q000473:pathology; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D009004:Monosaccharide Transport Proteins; C426650:SLC35C1 protein, human