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Immunodeficiency Diseases01:25

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Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
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An antigen is any substance the immune system identifies as foreign and potentially harmful to the body, prompting an immune response. Antigens have two functional properties: immunogenicity and reactivity. Immunogenicity is the ability of an antigen to stimulate a specific immune response. At the same time, reactivity describes the antigen's ability to react with the cells and antibodies produced in response to it.
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Rare variants at 16p11.2 are associated with common variable immunodeficiency.

S Melkorka Maggadottir1, Jin Li2, Joseph T Glessner2

  • 1Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, Pa; Center for Applied Genomics, Abramson Research Center, Children's Hospital of Philadelphia, Philadelphia, Pa.

The Journal of Allergy and Clinical Immunology
|February 14, 2015
PubMed
Summary

Researchers identified a novel genetic link between rare variants in the FUS/ITGAM (CD11b) locus and Common Variable Immunodeficiency (CVID). This finding implicates ITGAM in CVID pathogenesis and offers new avenues for understanding this complex immune disorder.

Keywords:
ITGAMImmunodeficiencygenome-wide association studyimmunogeneticsrare variants

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Area of Science:

  • Immunology
  • Genetics
  • Genomics

Background:

  • Common Variable Immunodeficiency (CVID) presents with low immunoglobulin levels, leading to recurrent infections and significant health issues.
  • The genetic underpinnings of CVID remain largely unknown, hindering diagnosis and treatment for most patients.

Purpose of the Study:

  • To identify novel genetic associations and variants linked to Common Variable Immunodeficiency (CVID).

Main Methods:

  • Genome-wide association analyses were conducted in a large discovery cohort of CVID patients and healthy controls.
  • Key findings were validated through replication in an independent cohort, followed by meta-analysis.
  • Conditional association analysis was employed to pinpoint the primary genetic signal.

Main Results:

  • Eleven single nucleotide polymorphisms (SNPs) at the 16p11.2 locus, including in the FUS and ITGAM (CD11b) genes, were significantly associated with CVID.
  • The association signal at 16p11.2 appeared to be a single, strong signal.
  • A notable trend of association was observed for SNPs within the MHC region, suggesting its relevance to CVID.
  • A high percentage (80%) of CVID patients with rare ITGAM variants exhibited reduced switched memory B-cell counts.

Conclusions:

  • A novel association between rare variants in the FUS/ITGAM (CD11b) locus on chromosome 16p11.2 and CVID has been established.
  • The ITGAM gene, encoding integrin CD11b, is implicated as a novel candidate gene in the pathogenesis of CVID.
  • The identified association signal is enriched for regulatory elements within the ITGAM gene, suggesting a functional role.