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Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1)

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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.

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Acknowledgments

We thank to Dr. Héctor Romero-Ramírez and M.Sc. Víctor H. Rosales-García for their help at different stages of this work. Supported by Instituto de Ciencia y Tecnología del Distrito Federal (ICyTDF) (Grant PICSA12-157) and Consejo Nacional de Ciencia y Tecnología (CONACyT) (Grant 153733 awarded to L.S.A.). J.L.M.M. and N.R.A. were supported by doctoral scholarships 203768 and 456878 from CONACyT. L.B.R was the recipient of a doctoral (176353) and postdoctoral (CVU 44813) scholarship from CONACyT.

Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Departamento de Inmunología Clínica, Instituto Nacional de Pediatría, CP 04530, Mexico City, Mexico

    Marco Yamazaki-Nakashimada, Francisco Rivas-Larrauri & Selma Scheffler-Mendoza

  2. Departamento de Biomedicina Molecular, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Avenida IPN 2508, CP 07360, Mexico City, D.F., Mexico

    José L. Maravillas-Montero, Laura Berrón-Ruiz, Orestes López-Ortega, Noé Ramírez-Alejo, Ernesto Acevedo-Ochoa & Leopoldo Santos-Argumedo

  3. Red de Apoyo a la Investigación, Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”-Coordinación de la Investigación Científica, Universidad Nacional Autónoma de México, CP 14000, Mexico City, Mexico

    José L. Maravillas-Montero

  4. Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, CP 04530, Mexico City, Mexico

    Laura Berrón-Ruiz, Lizbeth Blancas-Galicia & Selma Scheffler-Mendoza

  5. Hospital del Niño y el Adolescente Morelense, CP 62765, Cuernavaca, Morelos, Mexico

    Beatriz Llamas-Guillén

  6. Departamento Oncología, Unidad de Trasplantes de Células Madre Hematopoyéticas, Instituto Nacional de Pediatría, CP 04530, Mexico City, Mexico

    Alberto Olaya-Vargas

Authors
  1. Marco Yamazaki-Nakashimada
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  2. José L. Maravillas-Montero
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  3. Laura Berrón-Ruiz
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  4. Orestes López-Ortega
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  5. Noé Ramírez-Alejo
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  6. Ernesto Acevedo-Ochoa
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  7. Francisco Rivas-Larrauri
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  8. Beatriz Llamas-Guillén
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  9. Lizbeth Blancas-Galicia
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  10. Selma Scheffler-Mendoza
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  11. Alberto Olaya-Vargas
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  12. Leopoldo Santos-Argumedo
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Corresponding author

Correspondence to Leopoldo Santos-Argumedo.

Additional information

Marco Yamazaki-Nakashimada and José L. Maravillas-Montero have contributed equally to this work.

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Yamazaki-Nakashimada, M., Maravillas-Montero, J.L., Berrón-Ruiz, L. et al. Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1). Immunol Res 61, 260–268 (2015). https://doi.org/10.1007/s12026-014-8619-8

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  • DOI: https://doi.org/10.1007/s12026-014-8619-8

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