A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family

Conclusion In conclusion, this study wants to stress the importance of early diagnosis. As in the majority of primary immunodeficiency diseases, the prognosis of LAD3 is extremely dependent on early age diagnosis, with timely management of bacterial infections and consideration for HSCT. In addition, this autosomal recessive disorder has high incidence in areas with high rate of consanguineous marriages. Therefore, broadening the spectrum of known mutations underlying the phenotype of such a life-threatening disease can help offering and performing better genetic counseling and prenatal diagnosis. Ethics Statement This study was carried out in accordance with the recommendations Institutional Review Board (ERC/IRB). The protocol was approved by the Institutional Review Board (ERC/IRB). Written informed consent was obtained from the parents of the subjects in accordance with the Declaration of Helsinki. Author Contributions SabS contributed to the study design, data interpretation, and manuscript writing. SZ and SaiS were responsible for clinical examination and evaluation of patient and family. SA performed the laboratory work. AA contributed to the bioinformatics analysis. SM and TS were involved in study design, patients’ recruitment, and supervised the study and reviewed the manuscript. Conflict of Interest Statement The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a pot...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research