Publications by authors named "M Gonzalez-Serrano"
Purpose - The Latin American Society of Immunodeficiencies (LASID) Registry was established in 2009 to collect data on Inborn Errors of Immunity (IEI) patients in the region. Although several reports have been published regarding LASID data, this is the first report of the entire dataset. Methods - The European Society of Immunodeficiencies (ESID) donated the online platform in 2008.
View Article and Find Full Text PDFMost of the previous studies on the genetic variability in Spanish "Berrenda" breeds have been carried out using DNA microsatellites. The present work aimed to estimate the genetic diversity, population structure, and potential genetic differences among individuals of both Berrenda breeds and groups based on the presence of the Robertsonian chromosomal translocation, rob (1;29). A total of 373 samples from animals belonging to the two breeds, including 169 cases diagnosed as rob (1;29)-positive, were genotyped using an SNP50K chip.
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- The study focuses on DOCK8 deficiency (DOCK8-Def), detailing the clinical, immunological, and genetic traits of affected patients.
- A review of 11 patients revealed that all exhibited eczema and recurrent infections, with common issues including bronchiectasis and food allergies, while some experienced rare complications like tuberculosis and neurological syndromes.
- The research emphasizes the importance of early diagnosis of DOCK8-Def, as it can lead to better treatment options such as hematopoietic stem cell transplantation (HSCT).
The current study intends to evaluate the link between the affects observed by citizens on athletic events, the perception of their contribution to municipalities' sustainable development, and support for their celebration. A total of 2049 inhabitants from the Valencian Community's three provincial capitals (Spain) took part in this study, which used a stratified random sample with proportionate allocation. The causal association model fit well, with RMSEA = 0.
View Article and Find Full Text PDFCombinedimmunodeficiency (CID) due to DOCK8 deficiency is an inborn error of immunity (IBD) characterized by dysfunctional T and B lymphocytes; The spectrum of manifestations includes allergy, autoimmunity, inflammation, predisposition to cancer, and recurrent infections. DOCK8 deficiency can be distinguished from other CIDs or within the spectrum of hyper-IgE syndromes by exhibiting profound susceptibility to viral skin infections, associated skin cancers, and severe food allergies. The 9p24.
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