A NEONATE WITH PERIANAL CELLULITIS DUE TO LEUKOCYTE ADHESION DEFICIENCY - A CASE REPORT
| Autor: | S Vivek, P Balasubramaniam, Muthu Kumaran Jagannathan, Swapna Lingaldinna |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
ITGB2 Gene
Pathology medicine.medical_specialty Mutation business.industry Adhesion (medicine) CD18 medicine.disease medicine.disease_cause 03 medical and health sciences surgical procedures operative 0302 clinical medicine Immunophenotyping Perianal cellulitis 030225 pediatrics Immunology cardiovascular system medicine cardiovascular diseases 030212 general & internal medicine Leukocytosis medicine.symptom business circulatory and respiratory physiology Leukocyte adhesion deficiency |
| Zdroj: | Indian Journal of Child Health. :277-278 |
| ISSN: | 2349-6126 2349-6118 |
| DOI: | 10.32677/ijch.2017.v04.i02.040 |
| Popis: | Leukocyte adhesion deficiency (LAD) is a rare autosomal recessive disorder characterized by absence or dysfunctional CD18 on the surface of leukocytes due to a mutation in ITGB2 gene. The hallmarks of LAD are defects in leukocyte adhesion and marked leukocytosis. It is characterized by recurrent bacterial infections of the skin and mucosal membrane. Here, we report clinical and flow cytometric immunophenotyping of a baby diagnosed with LAD Type 1. |
| Databáze: | OpenAIRE |
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