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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.

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.

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Inborn errors of immunity (IEIs) 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 approximately 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 IEI 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 IEI 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 restore 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.
Transcribed Image Text:Inborn errors of immunity (IEIs) 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 approximately 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 IEI 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 IEI 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 restore 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.
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