Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America
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 fo...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Associação Paulista de Medicina
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| Series: | São Paulo Medical Journal |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802012000400011&lng=en&tlng=en |
| _version_ | 1811307798314614784 |
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| author | Rodrigo Vásquez-De Kartzow Cristian Jesam Valentina Nehgme Francisco Várgas Carolina Sepúlveda |
| author_facet | Rodrigo Vásquez-De Kartzow Cristian Jesam Valentina Nehgme Francisco Várgas Carolina Sepúlveda |
| author_sort | Rodrigo Vásquez-De Kartzow |
| collection | DOAJ |
| description | 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]. |
| first_indexed | 2024-04-13T09:10:44Z |
| format | Article |
| id | doaj.art-0be251ca02ca4d11b1ebb01cbd99027e |
| institution | Directory Open Access Journal |
| issn | 1806-9460 |
| language | English |
| last_indexed | 2024-04-13T09:10:44Z |
| publisher | Associação Paulista de Medicina |
| record_format | Article |
| series | São Paulo Medical Journal |
| spelling | doaj.art-0be251ca02ca4d11b1ebb01cbd99027e2022-12-22T02:52:52ZengAssociação Paulista de MedicinaSão Paulo Medical Journal1806-9460130426326610.1590/S1516-31802012000400011S1516-31802012000400011Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South AmericaRodrigo Vásquez-De Kartzow0Cristian Jesam1Valentina Nehgme2Francisco Várgas3Carolina Sepúlveda4Universidad de ChileUniversidad de Los AndesHospital Parroquial de San BernardoUniversidad de Los AndesUniversidad de Los AndesCONTEXT: 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].http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802012000400011&lng=en&tlng=enNiñoSíndromes de inmunodeficienciaInformes de casosMoléculas de adhesión celularSíndrome de deficiencia de adhesión del leucocito |
| spellingShingle | Rodrigo Vásquez-De Kartzow Cristian Jesam Valentina Nehgme Francisco Várgas Carolina Sepúlveda Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America São Paulo Medical Journal Niño Síndromes de inmunodeficiencia Informes de casos Moléculas de adhesión celular Síndrome de deficiencia de adhesión del leucocito |
| title | Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America |
| title_full | Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America |
| title_fullStr | Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America |
| title_full_unstemmed | Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America |
| title_short | Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America |
| title_sort | leukocyte adhesion deficiency syndrome report on the first case in chile and south america |
| topic | Niño Síndromes de inmunodeficiencia Informes de casos Moléculas de adhesión celular Síndrome de deficiencia de adhesión del leucocito |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802012000400011&lng=en&tlng=en |
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