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Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies.

Jérôme Hadjadj1, Aurélien Guffroy2, Christophe Delavaud3

  • 1Department of Haematology, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, France et Université Paris Descartes, 149 rue de Sèvres, 75015, Paris, France.

Journal of Clinical Immunology
|December 16, 2018
PubMed
Summary
This summary is machine-generated.

Progressive multifocal leukoencephalopathy (PML) is a rare, fatal complication in patients with primary immune deficiencies (PIDs). Many cases result from immunosuppressive therapy, requiring careful consideration before its use in PIDs.

Keywords:
Progressive multifocal leukoencephalopathycombined immunodeficienciesimmunosuppressive therapypolyomavirus JCprimary immunodeficiencies

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Area of Science:

  • Neuroimmunology
  • Infectious Diseases
  • Genetics

Background:

  • Progressive multifocal leukoencephalopathy (PML) is a severe demyelinating disease caused by JC virus (JCV) in immunocompromised individuals.
  • Primary immune deficiencies (PIDs) represent a diverse group of genetic disorders affecting the immune system, increasing susceptibility to infections and autoimmune conditions.

Purpose of the Study:

  • To report a series of patients with primary immune deficiencies (PIDs) who developed PML.
  • To describe the clinical, immunological, imaging, and outcome features of PML in PID patients.

Main Methods:

  • Retrospective observational study.
  • Inclusion of eleven unrelated patients diagnosed with PIDs and PML.
  • Analysis of clinical data, immunological investigations, imaging findings, and patient outcomes.

Main Results:

  • Eleven PID patients developed PML, predominantly with combined B and T cell defects.
  • Patients experienced recurrent infections, autoimmune manifestations, and malignancies prior to PML.
  • All patients exhibited CD4+ lymphopenia; immunosuppressive therapies were common preceding PML.
  • PML was fatal in all but one patient, with a median survival of 8 months post-diagnosis.

Conclusions:

  • PML is a rare but frequently fatal complication in patients with PIDs.
  • A significant proportion of PML cases in PIDs are linked to prior immunosuppressive therapy.
  • Careful evaluation is crucial before initiating or continuing immunosuppressive treatments in PID patients to mitigate PML risk.