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[Omenn syndrome].

C Glastre1, D Rigal

  • 1Unité de néphrologie pédiatrique, hôpital Edouard-Herriot, Lyon, France.

Pediatrie
|January 1, 1990
PubMed
Summary
This summary is machine-generated.

Omenn syndrome is a rare genetic disorder causing severe combined immunodeficiency (SCID) with unique lymphocytosis and skin manifestations. This condition, often fatal in infancy, involves immune dysregulation and characteristic Langerhans cell proliferation.

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Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Context:

  • Omenn syndrome is a rare autosomal recessive SCID.
  • Presents in early infancy with rash, alopecia, hepatosplenomegaly, and infections.
  • Distinguished by lymphocytosis, unlike other SCID forms.

Purpose:

  • To describe the clinical and pathological features of Omenn syndrome.
  • To differentiate Omenn syndrome from other SCID subtypes.
  • To discuss potential pathogenetic mechanisms.

Summary:

  • Characterized by severe combined immunodeficiency (SCID), lymphocytosis, hypereosinophilia, and skin/organ involvement.
  • Pathology reveals lymphoid depletion, thymic hypoplasia, and proliferation of Langerhans-like cells.
  • Typically fatal before one year of age, with debated pathogenesis.

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Impact:

  • Highlights the distinct immunological profile of Omenn syndrome.
  • Underscores the importance of early diagnosis for potential intervention.
  • Contributes to understanding complex immune dysregulation in infancy.