Leukocyte Adhesion Deficiency: Report of Two Family Related Newborn Infants
Leukocyte adhesion deficiency type 1 (LAD 1) is an autosomal recessive hereditary disorder resulting from deficiency of CD18, characterized by recurrent bacterial infections. We report two consanguineous patients with Leukocyte adhesion deficiency type 1( LAD1). These two infant boy patients were referred to us, within a short period of time, with the complaints of recurrent infections at the age of 38 and 75 days -old, respectively. Parents of two patients were first cousins and their grandmothers also were first cousins. The history of delayed umbilical cord separation was shown in both patients. Patient 1 had history of omphalitis, conjunctivitis, skin lesion of groin area and abscess formation of vaccination site, and had infective wound of eye-lid at the last admission. Patient 2 had history of omphalitis and soft tissue infection of right wrist at the last admission. Laboratory findings showed marked leukocytosis and low CD18 levels (6.6% in Patient 1 and 2.4 % in Patient 2). In Patient 1 recurrent infections were treated with antibiotic regimens and received bone marrow transplantation but Patient 2 died because of septicemia, generalized edema, ascites and progression to acute renal failure at 4 months of age. Due to considerable rate of consanguineous marriages in parents of Leukocyte adhesion deficiency patients, sequence analysis especially for prenatal diagnosis in subsequent pregnancies and genetic counseling is recommended.
Hayward AR, Harvey BA, Leonard J, Greenwood MC, Wood CB, Soothill JF. Delayed separation of the umbilical cord, widespread infections, and defective neutrophil mobility. Lancet 1979;1(8126):1099-101.
Bowen TJ, Ochs HD, Altman LC, Price TH, Van Epps DE, Brautigan DL, et al. Severe recurrent bacterial infections associated with defective adherence and chemotaxis in two patients with neutrophils deficient in a cell-associated glycoprotein. J Pediatr 1982;101(6):932-40.
Crowley CA, Curnutte JT, Rosin RE, André-Schwartz J, Gallin JI, Klempner M, et al. An inherited abnormality of neutrophil adhesion. Its genetic transmission and its association with a missing protein. N Engl J Med 1980;302(21):1163-8.
Springer TA, Thompson WS, Miller LJ, Schmalstieg FC, Anderson DC, et al. Inherited deficiency of the Mac-1, LFA-1, p150,95 glycoprotein family and its molecular basis. J Exp Med 1984;160(6):1901-18.
Anderson DC, Schmalsteig FC, Finegold MJ, Hughes BJ, Rothlein R, Miller LJ, et al. The severe and moderate phenotypes of heritable Mac-1, LFA-1 deficiency: their quantitative definition and relation to leukocyte dysfunction and clinical features. J Infect Dis 1985;152(4):668-89.
Etzioni A, Frydman M, Pollack S, Avidor I, Phillips ML, Paulson JC, et al. Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency. N Engl J Med 1992;327(25):1789-92.
Harlan JM, Killen PD, Senecal FM, Schwartz BR, Yee EK, Taylor RF, et al. The role of neutrophil membrane glycoprotein GP-150 in neutrophil adherence to endothelium in vitro. Blood 1985;66(1):167-78.
Back AL, Kwok WW, Hickstein DD. Identification of two molecular defects in a child with leukocyte adherence deficiency. J Biol Chem 1992;267(8):5482-7.
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.
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.
Weening RS, Bredius RG, Wolf H, van der Schoot CE. Prenatal diagnostic procedure for leukocyte adhesion deficiency. Prenat Diagn 1991;11(3):193-7.
Mealey BL, Hallmon WW, Waldrop TC. Occurrence and resolution of focal epithelial hyperplasia in two siblings with leukocyte adhesion deficiency. J Periodontol 1993;64(2):149-52.
Uguz A, Coskun M, Savas A, Yuzbey S, Yegin O. Presentation of two patients with leukocyte adhesion deficiency type 1. Joint meeting of pediatric assembly, European Respiratory Society and European Society of Pediatric Allergy And Clinical Immunology; Poster Sessions abstract 214 from Antalya Turkey. 1999 May 26- 29. Available from: URL:http://www.avid.com
Fischer A, Lisowska-Grospierre B, Anderson DC, Springer TA. Leukocyte adhesion deficiency: molecular basis and functional consequences. Immunodefic Rev 1988;1(1):39-54.
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