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Immunodeficiency Diseases01:25

Immunodeficiency Diseases

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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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The initiation of cell-mediated immunity can be observed as early as the third month of fetal growth, with active antibody-mediated immunity following approximately one month later.
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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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Use of In vivo Imaging to Monitor the Progression of Experimental Mouse Cytomegalovirus Infection in Neonates
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Congenital Cytomegalovirus Infection.

Nazia Kabani1, Shannon A Ross1,2

  • 1Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

The Journal of Infectious Diseases
|March 6, 2020
PubMed
Summary
This summary is machine-generated.

Congenital cytomegalovirus (cCMV) is a major cause of childhood hearing loss and disabilities. Identifying a biomarker is crucial for early intervention in asymptomatic infants to prevent long-term adverse outcomes.

Keywords:
congenital infectioncytomegalovirushearing loss

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Area of Science:

  • Pediatrics
  • Infectious Diseases
  • Genetics

Background:

  • Congenital cytomegalovirus (cCMV) is a significant cause of sensorineural hearing loss and neurological disabilities in children.
  • The disease burden of cCMV exceeds that of many other recognized childhood conditions.
  • While symptomatic infants have a higher risk of sequelae, most cCMV cases are asymptomatic at birth, yet 10-15% develop hearing loss.

Purpose of the Study:

  • To highlight the urgent need for a biomarker to identify asymptomatic infants with cCMV at high risk for adverse outcomes.
  • To emphasize the importance of developing targeted interventions for infants with cCMV.
  • To support the establishment of both targeted and universal cCMV screening programs globally.

Main Methods:

  • This study is a review and analysis of existing literature on congenital cytomegalovirus.
  • It synthesizes data on cCMV prevalence, clinical manifestations, and long-term sequelae.
  • The authors discuss the limitations of current diagnostic and prognostic tools for cCMV.

Main Results:

  • Congenital cytomegalovirus infection is a leading cause of pediatric hearing loss and neurological impairment.
  • Currently, no reliable predictors exist to identify adverse outcomes in asymptomatic infants with cCMV.
  • Early identification of high-risk infants is essential for effective intervention and management.

Conclusions:

  • The identification of a predictive biomarker for cCMV sequelae is highly desirable.
  • Targeted interventions can significantly benefit infants identified as high-risk.
  • There is a growing need for widespread cCMV screening programs in the United States and globally.