References
Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency 2015. J Clin Immunol. 2015;35:696.
Harris ES, Weyrich AS, Zimmerman GA. Lessons from rare maladies: leukocyte adhesion deficiency syndromes. Harris ES, Weyrich AS, Zimmerman GA. Curr Opin Hematol. 2013;20(1):16–25.
Tsai YC, Lee WI, Huang JL, Hung IJ, Jaing TH, Yao TC, et al. Neutrophil function and molecular analysis in severe leukocyte adhesion deficiency type I without separation delay of the umbilical cord. Pediatr Allergy Immunol. 2008;19(1):25–32.
Hogg N, Stewart MP, Scarth SL, Newton R, Shaw JM, Law SK, et al. A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1. J Clin Invest. 1999;103(1):97–106.
Mathew EC, Shaw JM, Bonilla FA, Law SK, Wright DA. A novel point mutation in CD18 causing the expression of dysfunctional CD11/CD18 leucocyte integrins in a patient with leucocyte adhesion deficiency (LAD). Clin Exp Immunol. 2000;121(1):133–8.
Huang C, Zang Q, Takagi J, Springer TA. Structural and functional studies with antibodies to the integrin beta 2 subunit. A model for the I-like domain. J Biol Chem. 2000;275(28):21514–24.
Bajt ML, Loftus JC. Mutation of a ligand binding domain of beta 3 integrin. Integral role of oxygenated residues in alpha IIb beta 3 (GPIIb-IIIa) receptor function. J Biol Chem. 1994;269(33):20913–9.
Acknowledgments
We would like to thank the patient and her family. We also thank Yelena Nemirovskaya, Lahouari Amar, Paula del Palacio, and Cecilia Girard for their assistance. The Laboratory of Human Genetics of Infectious Diseases is supported by institutional grants from INSERM, Paris Descartes University, The Rockefeller University, and the St. Giles Foundation and grants from the French National Research Agency (ANR) under the “Investments for the future” program (grant no. ANR-10-IAHU-01) and an IFNGPHOX grant (no. ANR13-ISV3-0001-01).
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Cabanillas, D., Regairaz, L., Deswarte, C. et al. Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18. J Clin Immunol 36, 627–630 (2016). https://doi.org/10.1007/s10875-016-0322-1
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DOI: https://doi.org/10.1007/s10875-016-0322-1