title: Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1).
abstract: Two patients with a severe leukocyte adhesion deficiency type 1 (LAD-1) phenotype were analyzed by flow cytometry and functional assays to demonstrate the improper adhesive and phagocytic responses of their leukocytes. A single homozygous defect that involves a missense mutation (c.817G>A) that encodes for a G273R substitution in CD18 was identified in both patients. The adhesion and phagocytosis assays demonstrated the inability of patients' leukocytes to perform these functions. Expression of the LFA-1 (CD11a/CD18) on the co-transfected HEK 293 cells with the mutated form of CD18 was not detected. Finally, both patients have been treated with immunoglobulin as an adjunctive therapy with positive results. We propose that intravenous immunoglobulin treatment is safe and efficacious in LAD-1 patients before hematopoietic stem cell transplantation and helpful in controlling severe infections. Subcutaneous immunoglobulin appeared to help wound healing in refractory ulcers in these patients.
authors.affiliation: Departamento de Inmunología Clínica, Instituto Nacional de Pediatría, CP 04530, Mexico City, Mexico.
authors.forename: Marco
authors.initials: M
authors.lastname: Yamazaki-Nakashimada
authors.forename: José L
authors.initials: JL
authors.lastname: Maravillas-Montero
authors.forename: Laura
authors.initials: L
authors.lastname: Berrón-Ruiz
authors.forename: Orestes
authors.initials: O
authors.lastname: López-Ortega
authors.forename: Noé
authors.initials: N
authors.lastname: Ramírez-Alejo
authors.forename: Ernesto
authors.initials: E
authors.lastname: Acevedo-Ochoa
authors.forename: Francisco
authors.initials: F
authors.lastname: Rivas-Larrauri
authors.forename: Beatriz
authors.initials: B
authors.lastname: Llamas-Guillén
authors.forename: Lizbeth
authors.initials: L
authors.lastname: Blancas-Galicia
authors.forename: Selma
authors.initials: S
authors.lastname: Scheffler-Mendoza
authors.forename: Alberto
authors.initials: A
authors.lastname: Olaya-Vargas
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Santos-Argumedo
mesh_terms: D018821:CD18 Antigens / Q000235:genetics / Q000378:metabolism*; D002448:Cell Adhesion / Q000235:genetics; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005240:Feasibility Studies; D057809:HEK293 Cells; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000008:administration & dosage* / Q000009:adverse effects; D007223:Infant; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000175:diagnosis* / Q000628:therapy; D007962:Leukocytes / Q000502:physiology*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D010587:Phagocytosis / Q000235:genetics; D016896:Treatment Outcome; D014456:Ulcer / Q000175:diagnosis* / Q000628:therapy; D014945:Wound Healing / Q000187:drug effects
chemical_list: D018821:CD18 Antigens; D016756:Immunoglobulins, Intravenous