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Related Concept Videos

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

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.
There are three main causes of immunodeficiency disorders...
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Cystic Fibrosis: Pathogenesis

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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Cytomegalovirus Disease

Cytomegalovirus (CMV) disease is caused by human cytomegalovirus, a double-stranded DNA virus of the Herpesviridae family. While primary CMV infection is often asymptomatic in immunocompetent individuals, the virus can cause severe disease in neonates and immunocompromised patients. CMV is the most common cause of congenital viral infection in the United States, and a major pathogen in solid organ and hematopoietic stem cell transplant recipients.CMV is transmitted via bodily fluids, sexual...
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Inflammatory Bowel Disease III: Crohn's Disease

Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
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Protein synthesis is indispensable for viral replication, as viruses lack the cellular machinery required for this process and must hijack the host's translational apparatus. In response, host cells deploy a critical innate immune defense involving interferons, specialized cytokines that play a central role in inhibiting viral propagation.Upon viral detection, infected cells release interferons that bind to receptors on adjacent uninfected cells, activating the JAK-STAT signaling pathway and...

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Related Experiment Video

Updated: May 24, 2026

Experimental Infection with Listeria monocytogenes as a Model for Studying Host Interferon-&#947; Responses
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Experimental Infection with Listeria monocytogenes as a Model for Studying Host Interferon-γ Responses

Published on: November 16, 2016

Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect.

Sheela Nampoothiri1, Surjit Singh, K N Parameswaran Nampoothiri

  • 1Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Aims Ponekkara PO, Cochin 682041, Kerala, India. sheeladr@gmail.com

Indian Journal of Pediatrics
|March 1, 2012
PubMed
Summary

Multifocal tuberculous osteomyelitis is rare in healthy children. A case report highlights the importance of immunological evaluation, revealing a potential interferon gamma axis defect in a young patient.

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Published on: March 12, 2015

Area of Science:

  • Pediatrics
  • Immunology
  • Infectious Diseases

Background:

  • Multifocal tuberculous osteomyelitis is exceptionally rare in immunocompetent individuals.
  • Early diagnosis and appropriate treatment are crucial for favorable outcomes.

Observation:

  • A 19-month-old girl presented with multifocal tuberculous osteomyelitis.
  • The patient exhibited a normal immunological evaluation initially.
  • However, a severely impaired response in interferon gamma (IFN γ) production of IL12p40 was noted.

Findings:

  • Complete resolution of multifocal tuberculous osteomyelitis was achieved with one year of four-drug antituberculous therapy.
  • The patient demonstrated a possible defect in the interferon gamma axis, despite the exact pathway defect remaining undelineated.

Implications:

  • This case underscores the necessity of comprehensive immunological assessments in children diagnosed with multifocal tuberculous osteomyelitis.
  • Identifying underlying immune deficiencies can guide long-term management strategies for rare infectious diseases.