1. Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1)
- Author
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Selma Scheffler-Mendoza, Beatriz Adriana Llamas-Guillen, Alberto Olaya-Vargas, Noé Ramírez-Alejo, Leopoldo Santos-Argumedo, Orestes López-Ortega, Francisco Rivas-Larrauri, Ernesto Acevedo-Ochoa, José L. Maravillas-Montero, Laura Berrón-Ruiz, Marco Antonio Yamazaki-Nakashimada, and Lizbeth Blancas-Galicia
- Subjects
Male ,medicine.medical_treatment ,DNA Mutational Analysis ,Leukocyte-Adhesion Deficiency Syndrome ,Immunology ,Mutation, Missense ,CD18 ,Hematopoietic stem cell transplantation ,CD11a ,Leukocyte Adhesion Deficiency Type 1 ,Consanguinity ,Phagocytosis ,Cell Adhesion ,Leukocytes ,medicine ,Humans ,Missense mutation ,Ulcer ,Wound Healing ,biology ,business.industry ,Hematopoietic Stem Cell Transplantation ,Immunoglobulins, Intravenous ,Infant ,medicine.disease ,Pedigree ,HEK293 Cells ,Treatment Outcome ,CD18 Antigens ,Child, Preschool ,biology.protein ,Primary immunodeficiency ,Feasibility Studies ,Antibody ,Wound healing ,business - 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.
- Published
- 2014
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