Clinical manifestations and expression of CD18 to guide the diagnosis of leukocyte adhesion deficiency type 1: Mexico experience
Main Article Content
Keywords
CD18, inborn error of immunity, infections, leukocyte adhesion deficiency type-1, leukocytosis
Abstract
Background: Leukocyte adhesion deficiency type 1 (LAD-1) is an inborn error of immunity characterized by a defect in leukocyte trafficking.
Methods: Patients with clinical suspicion of LAD-1 were referred to our institution. Complete blood count and flow cytometric analysis, to identify the expression of CD18, CD11b, and the lymphocyte population phenotyping, were performed, and statistical analysis was completed.
Results: We report clinical manifestations and immunological findings of six Mexican patients diagnosed with LAD-1. The diagnosis was based on typical clinical presentation, combined with laboratory demonstration of leukocytosis, and significant reduction or near absence of CD18 and its associated molecules CD11a, CD11b, and CD11c on leukocytes. We found atypical manifestations, not described in other countries, such as early-onset autoimmunity or infections caused by certain microorganisms.
Conclusions: Patients with LAD-1 may present with atypical manifestations, making flow cytometry an indispensable tool to confirm the diagnosis. We present the first report of LAD-1 patients in a Latin American country.
References
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19. Takizawa M, Maguchi S, Nakamaru Y, Miyatake Y, Fukuda S, Inuyama Y. Correlation between the levels of circulating adhesion molecules and PR3-ANCA in Wegener’s granulomatosis [Internet]. [cited 2001]. Auris Nasus Larynx. 2001;28. Available at: www.elsevier.com/locate/anl. 10.1016/S0385-8146(01)00064-5
20. Strickler A, Gallo S, King A, Rosenzweig SD. Leucocyte adhesion deficiency type 1 with developmental delay secondary to CMV infection and filiation questions. BMJ Case Rep. 2015 Apr 9;bcr2014208973. 10.1136/bcr-2014-208973
21. Uzel G, Tng E, Rosenzweig SD, Hsu AP, Shaw JM, Horwitz ME, et al. Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1) [Internet]. [cited 2008]. Available from: www.bloodjournal.org. 10.1182/blood-2007-04-082552
22. Kuijpers TW, Van Lier RAW, Hamann D, De Boer M, Yin Thung L, Weening RS, et al. Leukocyte adhesion deficiency type 1/variant: Dysfunctional 2 integrins leukocyte adhesion deficiency type 1 (LAD-1)/variant A novel immunodeficiency syndrome characterized by dysfunctional 2 integrins leukocyte adhesion deficiency • bleeding tendency • integ-rins • aggregation • chemotaxis [Internet]. [cited 1997]. J Clin Invest. 1997;100. 10.1172/JCI119697
23. Mazzone A, and Ricevuti G. Leukocyte CD11/CD18 integrins: biological and clinical relevance. Haematologica. 1995;80(2):161-175.
24. Kwon WK, Choi SI, Kim HJ, Huh HJ, Kang JM, Kim YJ, et al. Flow cytometry for the diagnosis of primary immunodeficiency diseases: A single center experience. Allergy Asthma Immunol Res. 2020 Mar 1;12(2):292–305. 10.4168/aair.2020.12.2.292
2. Sun B, Chen Q, Dong X, Liu D, Hou J, Wang W, et al. Report of a Chinese cohort with leukocyte adhesion deficiency-I and four novel mutations. J Clin Immunol. 2019;39:309–315. 10.1007/s10875-019-00617-4
3. Yaz I, Ozbek B, Bildik HN, Tan C, Oskay Halacli S, Soyak Aytekin E, et al. Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey. Clin Exp Immunol. 2021 Oct 1;206(1):47–55. 10.1111/cei.13645
4. Cano Pedroza RY, Berrón Pérez L, Espinosa-Padilla SE. Deficiencia de adhesión de leucocitos. Alergia Asma Inmunol Pediát. 2022;31(1):21–6. 10.35366/104882
5. Almarza Novoa E, Kasbekar S, Thrasher AJ, Kohn DB, Sevilla J, Nguyen T, et al. Leukocyte adhesion deficiency-I: A comprehensive review of all published cases. J Allergy Clin Immunol Pract. 2018 Jul 1;6(4):1418–20.e10. 10.1016/j.jaip.2017.12.008
6. Olaya-Vargas, Alberto, Vollbrechausen-Castelán, Lilia, Corcuera-Delgado, Celso Tomás, & Scheffler-Mendoza, Selma. (2015). Paciente con deficiencia de adhesión leucocitaria tipo 1 y doble falla primaria de injerto. Acta pediátrica de México. 2015;36(6):473–79.
7. Harris ES, Smith TL, Springett GM, Weyrich AS, Zimmerman GA. Leukocyte adhesion deficiency-I variant syndrome (LAD-Iv, LAD-III): Molecular characterization of the defect in an index family. Am J Hematol. 2012;87:311–3. 10.1002/ajh.22253
8. Yamazaki-Nakashimada M, Maravillas-Montero JL, Berrón-Ruiz L, López-Ortega O, Ramírez-Alejo N, Acevedo-Ochoa E, et al. Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1). Immunol Res. 2015 Feb 22;61(3):260–8. 10.1007/s12026-014-8619-8
9. Quero-Hernández A, Zárate AR, Tenorio RH. Deficiencia en adhesión leucocitaria tipo I. Presentación de un caso y revisión de la literatura. Rev Mex Pediatr. 2007;74(2):80–83
10. García Gaitan ME. Deficiencia de la adhesión leucocitaria tipo I. Reporte Del Primer Caso en México y Revisión de la Literatura. Universidad Nacional Autnoma de México, Mexico, City, Mexico; 1996.
11. 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 Nov 1;35(8):696–726. 10.1007/s10875-015-0201-1
12. Shearer WT, Rosenblatt HM, Gelman RS, Oyomopito R, Plaeger S, Richard Stiehm E, et al. Basic and clinical immunology lymphocyte subsets in healthy children from birth through 18 years of age: The Pediatric AIDS Clinical Trials Group P1009 study [Internet]. [cited 2019]. Available from: http://www.mosby.com/jaci
13. Hayward AR, Leonard J, Wood CBS, Harvey BAM, Greenwood MC, Soothill JF. Delayed separation of the umbilical cord, widespread infections, and defective neutrophil mobility. Lancet. 1979 May 26;1(8126):1099–101. 10.1016/s0140-6736(79)91786-0
14. Geroldinger-Simić M, Lehner K, Klein G, Sepp N, Jabkowski J. An adult with severe leukocyte adhesion deficiency type 1. JAAD Case Rep. 2022 Jan 1;19:1–3. 10.1016/j.jdcr.2021.10.031
15. Kambli PM, Bargir UA, Yadav RM, Gupta MR, Dalvi AD, Hule G, et al. Clinical and genetic spectrum of a large cohort of patients with leukocyte adhesion deficiency type 1 and 3: A multicentric study from India. Front Immunol. 2020 Dec 16;11:612703. 10.3389/fimmu.2020.612703
16. Gorjipour H, Chavoshzadeh Z, Fahimzad A, Hashemitari P, Darougar S. Leukocyte adhesion deficiency type 1: A case series and review of the literature. Allergy Immunol. 2019;4(1): 95–100. 10.33590/emjallergyimmunol/10314214
17. De Rose DU, Giliani S, Notarangelo LD, Lougaris V, Lanfranchi A, Moratto D, et al. Long-term outcome of eight patients with type 1 leukocyte adhesion deficiency (LAD-1): Not only infections, but high risk of autoimmune complications. Clin Immunol. 2018 Jun 1;191:75–80. 10.1016/j.clim.2018.03.005
18. Matsumoto K, Kurasawa T, Yoshimoto K, Suzuki K, Takeuchi T. Identification of neutrophil β2-integrin LFA-1 as a potential mechanistic biomarker in ANCA-associated vasculitis via microarray and validation analyses. Arthritis Res Ther. 2021 Dec 1;23(1):136. 10.1186/s13075-021-02510-1
19. Takizawa M, Maguchi S, Nakamaru Y, Miyatake Y, Fukuda S, Inuyama Y. Correlation between the levels of circulating adhesion molecules and PR3-ANCA in Wegener’s granulomatosis [Internet]. [cited 2001]. Auris Nasus Larynx. 2001;28. Available at: www.elsevier.com/locate/anl. 10.1016/S0385-8146(01)00064-5
20. Strickler A, Gallo S, King A, Rosenzweig SD. Leucocyte adhesion deficiency type 1 with developmental delay secondary to CMV infection and filiation questions. BMJ Case Rep. 2015 Apr 9;bcr2014208973. 10.1136/bcr-2014-208973
21. Uzel G, Tng E, Rosenzweig SD, Hsu AP, Shaw JM, Horwitz ME, et al. Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1) [Internet]. [cited 2008]. Available from: www.bloodjournal.org. 10.1182/blood-2007-04-082552
22. Kuijpers TW, Van Lier RAW, Hamann D, De Boer M, Yin Thung L, Weening RS, et al. Leukocyte adhesion deficiency type 1/variant: Dysfunctional 2 integrins leukocyte adhesion deficiency type 1 (LAD-1)/variant A novel immunodeficiency syndrome characterized by dysfunctional 2 integrins leukocyte adhesion deficiency • bleeding tendency • integ-rins • aggregation • chemotaxis [Internet]. [cited 1997]. J Clin Invest. 1997;100. 10.1172/JCI119697
23. Mazzone A, and Ricevuti G. Leukocyte CD11/CD18 integrins: biological and clinical relevance. Haematologica. 1995;80(2):161-175.
24. Kwon WK, Choi SI, Kim HJ, Huh HJ, Kang JM, Kim YJ, et al. Flow cytometry for the diagnosis of primary immunodeficiency diseases: A single center experience. Allergy Asthma Immunol Res. 2020 Mar 1;12(2):292–305. 10.4168/aair.2020.12.2.292
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Nov 1, 2023
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Fuentes-Lara, E. I., Arce-Estrada, G. E., Bojalil-Cabildo, A., Yamazaki-Nakashimada, M. A., Espinosa-Padilla, S. E., Gamez-Gonzalez, L. B., Nideshda Ramirez-Uribe, R. M., Saucedo-Ramirez, O. J., & Berron-Ruiza, L. (2023). Clinical manifestations and expression of CD18 to guide the diagnosis of leukocyte adhesion deficiency type 1: Mexico experience. Allergologia Et Immunopathologia, 51(6), 89-96. https://doi.org/10.15586/v51i6.914
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How to Cite
Fuentes-Lara, E. I., Arce-Estrada, G. E., Bojalil-Cabildo, A., Yamazaki-Nakashimada, M. A., Espinosa-Padilla, S. E., Gamez-Gonzalez, L. B., Nideshda Ramirez-Uribe, R. M., Saucedo-Ramirez, O. J., & Berron-Ruiza, L. (2023). Clinical manifestations and expression of CD18 to guide the diagnosis of leukocyte adhesion deficiency type 1: Mexico experience. Allergologia Et Immunopathologia, 51(6), 89-96. https://doi.org/10.15586/v51i6.914