Clinical Manifestations and Laboratory Findings in Patients with Leukocyte Adhesion Deficiency (LAD)
Objectives: Leukocyte Adhesion Deficiency (LAD) is a rare, inherited, immunodeficiency disease which is caused by defects in the leukocyte adhesion process. The migration of leukocytes to the blood vessel’s wall, needs multiple steps called adhesion cascade. In LAD, defects in rolling, integrin activation and firm adhesion of the leukocytes have been described.
Methods: In this study, we selected 67 patients with the confirmed diagnosis of LADs, from Iranian immunodeficiency registry center. A demographic information of the clinical complications and laboratory data were obtained from all the patients to evaluate the clinical manifestations.
Results: A total of 67 patients (38 male and 29 female), with a median age of 18 months old, were included in the present study. The first presentations were omphalitis in 28.35% of the cases, followed by delayed umbilical cord separation in 22.38% of the patients. The frequency of delayed umbilical cord separation was 41.8%, and was higher among other manifestations of our patients. Cellulitis and Omphalitis were observed in 40.3% and 38.8% of the patients, respectively. Regarding the laboratory findings, we found leukocytosis in 86.6 %( neutrophil dominant in 76.1%), and anemia in 77.6%, and thrombocytosis in 25.4% of the patients.
Conclusion: We indicated in the present study that the most common clinical manifestations, were delayed umbilical cord separation and recurrent infection in Iranian patients with LAD disorders. In laboratory findings, we found leukocytosis in most of the patients. CD18 was decreased in more than 90 % of the patients.
2. Hanna S, Etzioni A. Leukocyte adhesion deficiencies: Leukocyte adhesion deficiencies. Ann N Y Acad Sci. 2012;1250(1):50–5.
3. Ley K, Laudanna C, Cybulsky MI, Nourshargh S. Getting to the site of inflammation: the leukocyte adhesion cascade updated. Nat Rev Immunol. 2007;7(9):678–89.
4. van de Vijver E, van den Berg TK, Kuijpers TW. Leukocyte Adhesion Deficiencies. Hematol Oncol Clin North Am. 2013;27(1):101–16.
5. Hidalgo A, Ma S, Peired AJ, Weiss LA, Cunningham-Rundles C, Frenette PS. Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene. Blood J Am Soc Hematol. 2003;101(5):1705–12.
6. Moser M, Nieswandt B, Ussar S, Pozgajova M, Fässler R. Kindlin-3 is essential for integrin activation and platelet aggregation. Nat Med. 2008;14(3):325–30.
7. Movahedi M, Entezari N, Pourpak Z, Mamishi S, Chavoshzadeh Z, Gharagozlou M, et al. Clinical and Laboratory Findings in Iranian Patients with Leukocyte Adhesion Deficiency (Study of 15 Cases). J Clin Immunol. 2007;27(3):302–7.
8. Madkaikar M, Currimbhoy Z, Gupta M, Desai M, Rao M. Clinical profile of leukocyte adhesion deficiency type I. Indian Pediatr. 2012;49(1):43–5.
9. Deshpande P, Kathirvel K, Alex AA, Korula A, George B, Shaji R, et al. Leukocyte Adhesion Deficiency-I: Clinical and Molecular Characterization in an Indian Population. Indian J Pediatr. 2016;83(8):799–804.
10. Madkaikar M, Italia K, Gupta M, Chavan S, Mishra A, Rao M, et al. Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: Identification of 9 novel mutations. Blood Cells Mol Dis. 2015;54(3):217–23.
11. 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;6(4):1418-1420.e10.
12. Parvaneh N, Mamishi S, Rezaei A, Rezaei N, Tamizifar B, Parvaneh L, et al. Characterization of 11 New Cases of Leukocyte Adhesion Deficiency Type 1 with Seven Novel Mutations in the ITGB2 Gene. J Clin Immunol. 2010;30(5):756–60.
13. Hajishengallis G, Moutsopoulos NM. Etiology of leukocyte adhesion deficiency-associated periodontitis revisited: not a raging infection but a raging inflammatory response. Expert Rev Clin Immunol. 2014;10(8):973–5.
14. Majorana A, Notarangelo LD, Savoldi E, Gastaldi G, Lozada-Nur F. Leukocyte adhesion deficiency in a child with severe oral involvement. Oral Surg Oral Med Oral Pathol Oral Radiol Endodontology. 1999;87(6):691–4.
15. Cox DP, Weathers DR. Leukocyte adhesion deficiency type 1: an important consideration in the clinical differential diagnosis of prepubertal periodontitis. A case report and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endodontology. 2008;105(1):86–90.
16. Moutsopoulos NM, Konkel J, Sarmadi M, Eskan MA, Wild T, Dutzan N, et al. Defective neutrophil recruitment in leukocyte adhesion deficiency type I disease causes local IL-17–driven inflammatory bone loss. Sci Transl Med. 2014;6(229):229ra40-229ra40.
17. 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). Blood. 2008;111(1):209–18.
18. Akbari H, Zadeh MM. Leukocyte adhesion deficiency. Indian J Pediatr. 2001;68(1):77–9.
|Issue||Vol 4, No 1 (2021)|
|Adhesion Immunodeficiency Leukocyte Recurrent Infection|
|Rights and permissions|
|This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.|