Inborn errors of immunity (IEls) are a heterogeneous group of disorders due to genetic defects in the immune response that have a broad clinical spectrum. Diagnosis of the precise genetic cause of IEI has led to improved care and treatment of patients; however, genetic diagnosis using standard approaches is only successful in -40% of patients and is particularly challenging in "sporadic" cases without a family history. Standard genetic testing for IEI evaluates for germline changes in genes encoding proteins important for the immune response. It is now clear that IEl can also arise from de novo mutations leading to genetic variants present in germ cells and/or somatic cells. What genetic mechanism has emerged as a significant and often potentially overlooked molecular mechanism of IEI? Single nucleotide variant (SNV) - A genetic change in a single nucleotide, for example the change of a guanine (G) to an alanine (A). This may or may not be associated with altered function of the encoded protein, for example by changing the protein sequence or splicing of the MRNA. Mosaicism - With increased investigation of patients with rare immune phenotypes, there has been growing recognition that genetic mosaicism can be the underlying causes of IEI. The overall number of patients with IEI caused by post-zygotic somatic mosaicism was previously thought to be relatively low based on isolated case reports in the literature. However, multiple studies, including targeted sequencing for known IEl and discovery of new diseases, have identified somatic mosaicism as an important mechanism of disease. Reversion mutation - A genetic alteration that reverses the phenotype resulting from the previously mutated gene to wild type functional state. This includes back mutations that restores the wild type sequence or second- site mutations that affect a different site within the protein. De novo variant - A genetic change resulting for the first time in a germ cell or fertilized egg early during embryogenesis. For example, a child with a germline variant not carried by either parent would have a "de novo" variant.

Determine which statements could be used as evidence to support the argument that "DNA influences the proteins that are made" and which statements are just facts. [Select all that apply.] The HBB gene that makes beta-globin has several abnormal alleles, including HbS, HbC, and HbE. Sickle cell disease has been successfully treated using bone marrow transplantation in children and adults. The symptoms of sickle cell anemia may not appear in individuals who only carry one HbS allele, but are always apparent when both alleles are HbS. If oxygen is removed from red blood cells made by two HbS alleles, the cell will form a sickle shape.

What is selectable marker gene?

Choose an ICD-10-CM coding convention or guideline. Describe the importance of the coding convention or guideline. In your opinion, does this coding convention or guideline simplify your coding efforts?