Abstract
Severe combined immunodeficiency is a large clinically heterogeneous group of disorders caused by a defect in the development of humoral or cellular immune responses. At least 13 genes are known to be involved in the pathophysiology of the disease and the mutation spectrum in SCID have been well documented. The widespread application of whole-exome sequencing based on next-generation sequencing has offered a new opportunity to systematically screen these genes in clinical scales. In this report, we describe the application of whole exome sequencing for arriving at a molecular diagnosis in a child suffering from B- T- NK+ severe combined immunodeficiency. Apart from making the accurate molecular diagnosis, we also add a genetic variation c.2308G>A p.E770K to the compendium of variations associated with the disease.
Highlights
Severe combined immunodeficiency (SCID) encompasses a constellation of clinically and genetically heterogeneous diseases resulting in defects of the humoral and/or cellular immune defence mechanism[1]
Accurate molecular diagnosis of the disease is of prime importance, in offering appropriate genetic counselling, and in understanding the exact molecular defect and would potentially enable prenatal screening[2]
We describe the application of whole exome sequencing for the accurate molecular diagnosis of a case of B- TNK+ SCID
Summary
○ Page 3: I would consider focusing the introduction on the topic of RAG deficiency. Clarification: Suggestions have been incorporated. ○ Page 3: In the last paragraph of the introduction you talk about a genetic variation E770K. ○ Page 4: You mention that the mutation was previously reported. ○ Page 4: I would include the portion about the transplant course in the case report section and not at the end of the discussion. The manuscript “Whole exome sequencing identifies variation c.2308G>A p.E770K in RAG1 associated with B- T- NK+ severe combined immunodeficiency” is the description of a case report, that is a child as a supposed case of SCID. Clarification 1: We have observed the variations in the genes, which are previously reported with primary immunodeficiency.
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