Leukocyte adhesion deficiency syndrome

report on the first case in Chile and South America

Autores

  • Rodrigo Vásquez-De Kartzow Hospital Parroquial de San Bernardo and Facultad de Medicina de la Universidad de Chile
  • Cristian Jesam Hospital Parroquial de San Bernardo and Facultad de Medicina de la Universidad de Chile
  • Valentina Nehgme Hospital Parroquial de San Bernardo and Facultad de Medicina de la Universidad de Chile
  • Francisco Várgas Hospital Parroquial de San Bernardo and Facultad de Medicina de la Universidad de Chile
  • Carolina Sepúlveda Hospital Parroquial de San Bernardo and Facultad de Medicina de la Universidad de Chile

Palavras-chave:

Child, Immunologic deficiency syndromes, Case report [publication type], Cell adhesion molecules, Leukocyte-adhesion deficiency syndrome

Resumo

CONTEXT: Adhesion molecule deficiency type 1 is a rare disease that should be suspected in any patient whose umbilical cord presents delay in falling off, and who presents recurrent severe infections. Early diagnostic suspicion and early treatment improve the prognosis. CASE REPORT: The case of a four-month-old boy with recurrent hospitalizations because of severe bronchopneumonia and several episodes of acute otitis media with non-purulent drainage of mucus and positive bacterial cultures is presented. His medical history included neonatal sepsis and delayed umbilical cord detachment. Laboratory studies showed marked leukocytosis with predominance of neutrophils and decreased CD11b and CD18. These were all compatible with a diagnosis of leukocyte adhesion deficiency type I [LAD type 1].

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Biografia do Autor

Rodrigo Vásquez-De Kartzow, Hospital Parroquial de San Bernardo and Facultad de Medicina de la Universidad de Chile

MD. Specialist in Pediatrics and Infectious Diseases, Department of Pediatrics, Campus Centro, Facultad de Medicina de la Universidad de Chile, Santiago, Chile.

Cristian Jesam, Hospital Parroquial de San Bernardo and Facultad de Medicina de la Universidad de Chile

MD. General Physician, Universidad de Los Andes (ULA), Santiago, Chile.

Valentina Nehgme, Hospital Parroquial de San Bernardo and Facultad de Medicina de la Universidad de Chile

MD. Pediatrician, Hospital Parroquial de San Bernardo (HPSB), Santiago, Chile.

Francisco Várgas, Hospital Parroquial de San Bernardo and Facultad de Medicina de la Universidad de Chile

MD. General Physician, Universidad de Los Andes (ULA), Santiago, Chile.

Carolina Sepúlveda, Hospital Parroquial de San Bernardo and Facultad de Medicina de la Universidad de Chile

MD. Pediatrician, Universidad de Los Andes (ULA), Santiago, Chile.

Referências

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Crowley CA, Curnutte JT, Rosin RE, 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.

Todd RF 3rd, Freyer DR. The CD11/CD18 leukocyte glycoprotein deficiency. Hematol Oncol Clin North Am. 1988;2(1):13-31.

Bunting M, Harris ES, McIntyre TM, Prescott SM, Zimmerman GA. Leukocyte adhesion deficiency syndromes: adhesion and tethering defects involving beta 2 integrins and selectins ligands. Curr Opin Hematol. 2002;9(1):30-5.

International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies, Notarangelo LD, Fischer A, et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009;124(6):1161-78.

Netea MG, van der Meer JW. Immunodeficiency and genetic defects of pattern-recognition receptors. N Engl J Med. 2011;364(1):60-70.

Etzioni A, Frydman M, Pollack S, et al. Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency. N Engl J Med. 1992;327(25):1789-92.

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

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Mellouli F, Ksouri H, Barbouche R, et al. Successful treatment of Fusarium solani ecthyma gangrenosum in a patient affected by leukocyte adhesion deficiency type 1 with granulocytes transfusions. BMC Dermatol. 2010;10:10.

Jabbari Azad F, Ardalan M, Hoseinpoor Rafati A, Sotoudeh S, Pourpak

Z. Osteomyelitis in leukocyte adhesion deficiency type 1 syndrome. J Infect Dev Ctries. 2010;4(3):175-8.

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 Endod. 2008;105(1):86-90.

Hattori H, Tsuruta S, Horikoshi Y, et al. Successful human leukocyte antigen one antigen-mismatched related bone marrow transplantation in a 6-year-old boy with leukocyte adhesion deficiency syndrome. Pediatr Int. 2001;43(3):306-9.

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Publicado

2012-07-07

Como Citar

1.
Kartzow RV-D, Jesam C, Nehgme V, Várgas F, Sepúlveda C. Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America. Sao Paulo Med J [Internet]. 7º de julho de 2012 [citado 10º de março de 2025];130(4):263-6. Disponível em: https://periodicosapm.emnuvens.com.br/spmj/article/view/1483

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