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[Hyperimmunoglobulin D syndrome]

J P Drenth1, N E Denecker, A M Prieur

  • 1Département de Médecine interne, Hôpital Universitaire St Radboud, Nimègue, Pays-Bas.

Presse Medicale (Paris, France : 1983)
|September 16, 1995
PubMed
Summary
This summary is machine-generated.

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Hyper-IgD syndrome is a rare genetic disorder causing periodic fevers and elevated serum IgD. While symptoms overlap with other febrile syndromes, it has a distinct genetic basis and no current cure.

Area of Science:

  • Genetics and Immunology
  • Rare Diseases
  • Autoinflammatory Syndromes

Context:

  • Hyper-IgD syndrome is a rare autoinflammatory disorder.
  • Characterized by recurrent fevers and elevated serum IgD levels.
  • Primarily affects European populations, with a known autosomal recessive inheritance pattern.

Purpose:

  • To describe the clinical and genetic characteristics of Hyper-IgD syndrome.
  • To differentiate it from other periodic fever syndromes like CINCA and FAPA.
  • To outline the inflammatory markers and cytokine profiles during acute attacks.

Summary:

  • Hyper-IgD syndrome presents with periodic fevers, joint pain, abdominal issues, and skin lesions, consistently showing elevated serum IgD (>100 U/ml).
  • Genetic studies confirm it's distinct from Familial Mediterranean Fever, with autosomal recessive inheritance.

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  • Distinguishing it from CINCA and FAPA is crucial as they have normal IgD levels.
  • Acute attacks involve an inflammatory response with elevated C-reactive protein and cytokines (IL-6, TNF-alpha, IFN-gamma).
  • No specific therapy exists, and while attacks persist lifelong, they may decrease in frequency and severity with age.

    • Impact:

    • Highlights the importance of distinguishing Hyper-IgD syndrome from similar febrile disorders for accurate diagnosis.
    • Provides insights into the inflammatory pathways involved in periodic fever syndromes.
    • Emphasizes the need for further research into the pathogenesis and potential therapies for Hyper-IgD syndrome.