ArticleIndian journal of pediatrics2016
Leukocyte Adhesion Deficiency-I: Clinical and Molecular Characterization in an Indian Population.
Article in Indian journal of pediatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- International clinical consensus on leukocyte adhesion deficiency-I: Modified Delphi analysis.The journal of allergy and clinical immunology. Global · 2026Article
- An atypical adolescent case of leukocyte adhesion deficiency I caused by a novel ITGB2 splicing variant with successful immune reconstitution following hematopoietic stem cell transplantation.Clinical and experimental immunology · 2025Article
- A novel ITGB2 variant with long survival in patients with leukocyte adhesion defect type-I.Immunologic research · 2021Article
- Clinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India.Frontiers in immunology · 2020Article
- Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations.Journal of clinical immunology · 2019Article
- The Impact of Integrin β2 on Granulocyte/Macrophage Progenitor Proliferation.Stem cells (Dayton, Ohio) · 2019Article
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Authors and funding
7 authors at 1 institution in 1 country.
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Abstract
objectiveTo describe clinical and flow cytometric immunophenotyping details of 26 patients of Leukocyte adhesion deficiency-I (LAD-I) along with molecular characterization of 7 patients.
methodsDiagnosis of LAD-I was suspected on the basis of clinical features, white blood cell count and absolute neutrophil counts and flow cytometric assessment of expression of CD18 and CD11(a, b, c) on leukocytes. Mutation analysis was performed using DNA PCR and conformation sensitive gel electrophoresis (CSGE) technique followed by sequencing.
resultsAll the patients were symptomatic by the age of 6 mo, with history of recurrent bacterial infections involving skin, mucosa or umbilical cord (omphalitis) being the most frequent presenting symptoms. White blood cells (WBC) and absolute neutrophil counts (ANC) were markedly elevated, without any specific morphological findings. On flow cytometry, CD11a and CD11c showed moderate correlation with CD18 expression. Mutation analysis was performed in 7 patients and six different mutations (4 missense, 2 nonsense and 1 splice site) were identified, all of which were homozygous in nature.
conclusionsA presentation of repeated bacterial infections during infancy, especially omphalitis, with markedly elevated absolute neutrophil counts should trigger investigations for LAD-I including flow cytometric analysis of CD11/CD18 expression.
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