Rare Diseases Symptoms Automatic Extraction

Phenotypic differences between mdx black mice and mdx albino mice. Comparison of cytokine levels in the blood.

[oculocutaneous albinism]

In mdx mice, mutation in the muscle protein dystrophin gene results in the development of chronic degeneration of the muscle tissue. We performed a comparative analysis of blood cytokine levels in mdx mice, classical black mice and mice with additional genetic defect responsible for the manifestations of oculocutaneous albinism. In mdx albino mice, the total pool of cytokines (IL-10, IL-6, IL-5, IL-2, IL-1α, IL-4, IL-17, granulocyte-macrophage growth factor, TNF, and IFN-γ) was increased. This increase was not associated with selective release of one of the above cytokines into the blood. The fraction of pro-inflammatory cytokines (IL-6, IL-1α, TNF) was increased in the total pool and the percentage of antiinflammatory cytokines (IL-4) was reduced. Changes in cytokine pool probably reflect the differences in the severity of the pathological process in the muscle tissue of both genetic variations of mdx mice.

Diseases presenting "growth factor" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • adrenal incidentaloma
  • aniridia
  • cadasil
  • cholangiocarcinoma
  • coats disease
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • dentinogenesis imperfecta
  • dystrophic epidermolysis bullosa
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • inclusion body myositis
  • kallmann syndrome
  • krabbe disease
  • liposarcoma
  • lymphangioleiomyomatosis
  • oculocutaneous albinism
  • oral submucous fibrosis
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • severe combined immunodeficiency
  • systemic capillary leak syndrome
  • von hippel-lindau disease
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

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