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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 ...
Source: Frontiers in Genetics - April 23, 2019 Category: Genetics & Stem Cells Source Type: research

A single-center experience of post-transplant lymphoproliferative disorder (PTLD) cases after pediatric liver transplantation: Incidence, outcomes, and association with food allergy.
CONCLUSION: PTLD is a life-threatening complication of solid-organ transplantation with a heterogeneous clinical spectrum. Food allergy had a close association with PTLD. A close follow-up of patients with risk factors and an early diagnosis with appropriate treatment may lead to a better outcome. PMID: 29755021 [PubMed - in process]
Source: The Turkish Journal of Gastroenterology - May 1, 2018 Category: Gastroenterology Authors: Barış Z, Özçay F, Yılmaz Özbek Ö, Haberal N, Sarıalioğlu F, Haberal M Tags: Turk J Gastroenterol Source Type: research