e.g., HRA000087; HRA000150

HRA010821
Title:
Leukocyte Adhesion Deficiency Type III in An Infant Presenting with Intestinal Perforation and Low Percentage of Natural Killer Cells: First Case Report from Iran
Release date:
2025-04-02
Description:
This report presents a 20-month-old male with leukocyte adhesion deficiency, type III (LAD3), a very rare form of LAD who developed small bowel perforation associated with prolonged bleeding following the surgery.
Data Accessibility:   
Open access
BioProject:
Study type:
Disease Study
Disease name:
leukocyte adhesion deficiency
Individuals & samples
Individual Accession
Individual Name
Gender
Sample Accession
Sample Name
Sample Description
Individual Accession
Individual Name
Gender
Sample Accession
Sample Name
Sample Description
HRI1243438M2400 BonyanmaleHRS1639192M2400 BonyanSequencing data of a patient with LAD III with a mutation in exon 12 of FERMT3 gene.
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Files
Run accession
Files
Experiment
Experiment title
Platform
Sample
Run accession
Files
Experiment
Experiment title
Platform
Sample
HRR2262987HRR2262987.fasta.gz (0.00 GB)HRX1834296Leukocyte Adhesion Deficiency Type III in An Infant Presenting with Intestinal Perforation and Low Percentage of Natural Killer Cells: First Case Report from IranAB 3500 Genetic AnalyzerHRS1639192 (SAMC4936939)
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Submitter:   Saberi Mohammad / m.saberi1988@gmail.com
Organization:   Tehran University of Medical Sciences
Submission date:   2025-03-23