Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population
نویسندگان
چکیده
منابع مشابه
Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population
During the last decades, the study of primary immunodeficiencies (PIDs) has contributed tremendously to unravel novel pathways involved in a variety of immune responses. Many of these PIDs have an autosomal recessive (AR) mode of inheritance. Thus, the investigation of the molecular basis of PIDs is particularly relevant in consanguineous populations from Middle East and North Africa (MENA). Al...
متن کاملimproved diagnostic yield of neuromuscular disorders applying clinical exome sequencing (ces) in patients arising from a consanguineous population
neuromuscular disorders (nmds) include a broad range of diseases affecting muscles, nerves and neuromuscular junctions. approximately 761 different disorders occur in this group which is subdivided into 16 different subgroups with 406 known genes. nmds are genetically and clinically heterogeneous conditions. the advent of next generation sequencing (ngs) approaches has accelerated the pace of d...
متن کاملConsanguineous matings in the Egyptian population.
A total of 26 554 Egyptians was ascertained to study the incidence of consanguineous marriages. They were of different ages, different socioeconomic standards, and from different areas. There were 7646 from urban areas, 11 280 from suburban areas, and 7628 from rural areas. The incidence of consanguineous matings in the general population was found to be 28.96% with an average inbreeding coeffi...
متن کاملTranscriptional and phenotypical heterogeneity of Trypanosoma cruzi cell populations.
Trypanosoma cruzi has a complex life cycle comprising pools of cell populations which circulate among humans, vectors, sylvatic reservoirs and domestic animals. Recent experimental evidence has demonstrated the importance of clonal variations for parasite population dynamics, survival and evolution. By limiting dilution assays, we have isolated seven isogenic clonal cell lines derived from the ...
متن کاملConstitutional Mismatch Repair-Deficiency Syndrome Is a Rare Cause of Cancer Even in a Highly Consanguineous Population
Biallelic germline mutations in the mismatch repair genes, including MLH1, MSH2, MSH6 or PMS2, lead to a recessive constitutional mismatch repair-deficiency (CMMR-D) syndrome characterized by early onset malignancies in children and young adults. Because consanguinity unmasks autosomal recessive disorders, we hypothesized that the frequency of CMMR-D is inflated in the highly consanguineous pop...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Clinical & Experimental Immunology
سال: 2018
ISSN: 0009-9104
DOI: 10.1111/cei.13222