ArticleAmerican journal of hematology2012
Leukocyte adhesion deficiency-I variant syndrome (LAD-Iv, LAD-III): molecular characterization of the defect in an index family.
Article in American journal of hematology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 25 citations in OpenAlex.
- Review
- Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III.Journal of clinical immunology · 2023Article
- Case Report: A Case of Leukocyte Adhesion Deficiency, Type III Presenting With Impaired Platelet Function, Lymphocytosis and Granulocytosis.Frontiers in pediatrics · 2021Article
- A Novel Nonsense Mutation inFrontiers in genetics · 2019Article
- Neutrophils: Between host defence, immune modulation, and tissue injury.PLoS pathogens · 2015Review
- Leukocyte adhesion deficiency III - when integrins activation fails.Journal of clinical immunology · 2014Review
- Integrin αDβ2 (CD11d/CD18) is expressed by human circulating and tissue myeloid leukocytes and mediates inflammatory signaling.PloS one · 2014Article
- Lessons from rare maladies: leukocyte adhesion deficiency syndromes.Current opinion in hematology · 2013Review
- Opposite role of Kindlin-1 and Kindlin-2 in lung cancers.PloS one · 2012Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Leukocyte adhesion deficiencies are rare clinical syndromes of impaired host defense that provide novel insights into regulation of immune and inflammatory responses. Leukocyte adhesion deficiency (LAD)-I variant (LAD-Iv), also called LAD-III, is a unique disorder in which inside-out signaling of β₁, β₂, and β₃ integrins on leukocytes and platelets is disrupted, leading to impaired cellular adhesion, recurrent infections, and bleeding. We originally reported the second patient with this disorder to be identified and characterized the adhesive deficiencies and functional phenotype of this subject's leukocytes. Here, we show that the molecular defect in this index subject is a new mutation in FERMT3 (KINDLIN-3) which encodes KINDLIN-3, a cytoskeletal protein that interacts with the cytoplasmic tails of β₁, β₂, and β₃ integrins and is required for inside-out and outside-in signaling of these heterodimers. We also report clinical features and previously unrecognized defects in cells from a new patient, a sibling of the original subject that we described who carries the same FERMT3 mutation. Mutations in FERMT3 have now been shown to be the basis for LAD-Iv/LAD-III in each of the four original patients or families that established this syndrome, including the family that we describe.
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