ArticleJournal of clinical immunology2009
The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1.
Article in Journal of clinical immunology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 56 citations in OpenAlex.
- Leukocyte adhesion deficiency type III in an infant presenting with intestinal perforation and low percentage of natural killer cells: first case report from Iran.BMC pediatrics · 2025Article
- Review
- NovelJournal of pediatric genetics · 2023Article
- Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III.Journal of clinical immunology · 2023Article
- Article
- Intravascular adhesion and recruitment of neutrophils in response to CXCL1 depends on their TRPC6 channels.Journal of molecular medicine (Berlin, Germany) · 2020Article
- Integration of Rap1 and Calcium Signaling.International journal of molecular sciences · 2020Review
- [Morphological characteristics of osteopetrosis].Der Pathologe · 2018Review
- A case of infantile osteopetrosis: The radioclinical features with literature update.Bone reports · 2016Article
- Tools of the trade: podosomes as multipurpose organelles of monocytic cells.Cellular and molecular life sciences : CMLS · 2015Review
- Leukocyte adhesion deficiency III - when integrins activation fails.Journal of clinical immunology · 2014Review
- Lessons from rare maladies: leukocyte adhesion deficiency syndromes.Current opinion in hematology · 2013Review
- Leukocyte adhesion deficiency-I variant syndrome (LAD-Iv, LAD-III): molecular characterization of the defect in an index family.American journal of hematology · 2012Article
- Kindlin-3-mediated signaling from multiple integrin classes is required for osteoclast-mediated bone resorption.The Journal of cell biology · 2011Article
- Prompt recovery of recipient hematopoiesis after two consecutive haploidentical peripheral blood SCTs in a child with leukocyte adhesion defect III syndrome.Bone marrow transplantation · 2010Article
- Osteopetrosis.Orphanet journal of rare diseases · 2009Review
- Potential large animal models for gene therapy of human genetic diseases of immune and blood cell systems.ILAR journal · 2009Article
- Leukocyte adhesion deficiency syndrome: a controversy solved.Immunology and cell biologyArticle
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionLeukocyte adhesion deficiency (LAD) type III is a rare syndrome characterized by severe recurrent infections, leukocytosis, and increased bleeding tendency. All integrins are normally expressed yet a defect in their activation leads to the observed clinical manifestations. MATERIALS AND
methodsLess than 20 patients have been reported world wide and the primary genetic defect was identified in some of them. Here we describe the clinical features of patients in whom a mutation in the calcium and diacylglycerol-regulated guanine nucleotide exchange factor 1 (CalDAG GEF1) was found and compare them to other cases of LAD III and to animal models harboring a mutation in the CalDAG GEF1 gene. DISCUSSION: The hallmarks of the syndrome are recurrent infections accompanied by severe bleeding episodes distinguished by osteopetrosis like bone abnormalities and neurodevelopmental defects.
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