DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20164621

Leukocyte adhesion deficiency type I in a term neonate with late onset sepsis: a case report

Laxman Basani, Roja Aepala

Abstract


Leukocyte adhesion deficiency (LAD) is a rare primary immunodeficiency disorder of leukocyte function characterized by marked leucocytosis secondary to lack of leukocyte recruitment at the site of infection. LAD type I results from lack of expression of leukocyte cell surface β2 integrins (CD 11 and CD 18) that are essential for leukocyte adhesion to endothelial cells and chemotaxis. LAD I is characterized by delayed separation of the umbilical cord, recurrent life-threatening infections of oral and genital mucosa, skin, intestine and respiratory tract. There is impaired pus formation and delayed wound healing despite extreme neutrophilia. Children with severe form of LAD I (<1% expression of CD18) have the worst prognosis and succumb to infections by 2 years of age. Study reports a case of LAD I in a term neonate who presented with sepsis and the diagnosis was confirmed by flow cytometry. Around 400 cases of LAD I were diagnosed worldwide so far, with very few cases reported from India.


Keywords


Delayed cord separation, Leukocyte adhesion deficiency, LAD I, Leucocytosis, Neonate, Sepsis

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References


Muller WA. Leukocyte-endothelial-cell interactions in leukocyte transmigration and the inflammatory response. Trends Immunol. 2003;24(6):326-33.

Etzioni A. Leukocyte adhesion deficiencies: molecular basis, clinical findings, and therapeutic options. Adv Exp Med Biol. 2007;601:51-60.

Fischer A, Lisowska-Grospierre B, Anderson DC, Springer TA. Leukocyte adhesion deficiency: molecular basis and functional consequences. Immunodefic Rev. 1988;1(1):39-54.

Marquardt T, Brune T, Luhn K. Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism. J Pediatr. 1999;134(6):681-8.

Vihinen M, Arredondo-Vega FX, Casanova JL, Etzioni A, Giliani S, Hammarström L, et al. Primary immunodeficiency mutation databases. Adv Genet. 2001;43:103-88.

Etzioni A, Gershoni-Baruch R, Pollack S, Shehadeh N. Leukocyte adhesion deficiency type II: long-term follow-up. J Allergy Clin Immunol. 1998;102:323-4.

Alon R, Etzioni A. LAD III, a novel group of leukocyte integrin activation deficiencies. Trends Immunol. 2003;24(10):561-6.

Lorusso F, Kong D, Jalil AK. Preimplantation genetic diagnosis of leukocyte adhesion deficiency type I. Fertil Steril. 2006;85(2):494.e15-8.

Bauer TR, Hickstein DD. Gene therapy for leukocyte adhesion deficiency. Curr Opin Mol Ther. 2000;2(4):383-8.

Mancias C, Infante AJ, Kamani NR. Matched unrelated donor bone marrow transplantation in leukocyte adhesion deficiency. Bone Marrow Transplant. 1999;24(11):1261-3.

Farinha NJ, Duval M, Wagner E. Unrelated bone marrow transplantation for leukocyte adhesion deficiency. Bone Marrow Transplant. 2002;30(12):979-81.

Etzioni A, Tonetti M. Fucose supplementation in leukocyte adhesion deficiency type II. Blood. 2000;95(11):3641-3.