European Journal of Pediatrics

, Volume 166, Issue 11, pp 1099–1117 | Cite as

Fungal infections in primary immunodeficiencies

  • Charalampos Antachopoulos
  • Thomas J. Walsh
  • Emmanuel Roilides
Review

Abstract

Patients with phagocytic, cellular, combined and other primary immunodeficiencies exhibit immune deficits that confer increased susceptibility to fungal infections. A number of yeasts and moulds, most commonly Candida and Aspergillus but also Cryptococcus, Histoplasma, Paecilomyces, Scedosporium, Trichosporon, Penicillium and other, rarely isolated, fungal organisms, have been variably implicated in causing disease in patients with chronic granulomatous disease, severe combined immunodeficiency, chronic mucocutaneous candidiasis, hyper-IgE syndrome, myeloperoxidase deficiency, leukocyte adhesion deficiency, defects in the interferon-γ/interleukin-12 axis, DiGeorge syndrome, X-linked hyper-IgM syndrome, Wiskott-Aldrich syndrome and common variable immunodeficiency. Differences in the spectrum of fungal pathogens as well as in the incidence and clinical presentation of the infections may be observed among patients, depending upon different immune disorders. Fungal infections in these individuals may occasionally be the presenting clinical manifestation of a primary immunodeficiency and can cause significant morbidity and potentially fatal outcome if misdiagnosed or mistreated. A high degree of suspicion is needed and establishment of diagnosis should actively be pursued using appropriate imaging, mycological and histological studies. A number of antifungal agents introduced over the last fifteen years, such as the lipid formulations of amphotericin B, the second-generation triazoles, and the echinocandins, increase the options for medical management of these infections. Surgery may also be needed in some cases, while the role of adjunctive immunotherapy has not been systematically evaluated. The low incidence of primary immunodeficiencies in the general population complicates single-center prospective or retrospective clinical studies aiming to address diagnostic or therapeutic issues pertaining to fungal infections in these patients.

Keywords

Primary immunodeficiencies Fungal infections Antifungal agents Candida Aspergillus 

Abbreviations

AIRE

Autoimmune regulator

APECED

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

CGD

Chronic granulomatous disease

CMC

Chronic mucocutaneous candidiasis

CT

Computed tomography

CVID

Common variable immunodeficiency

G-CSF

Granulocyte colony-stimulating factor

HIV

Human immunodeficiency virus

IFN

Interferon

IL

Interleukin

LAD

Leukocyte adhesion deficiencies

MRI

Magnetic resonance imaging

NADPH

Nicotinamide adenine dinucleotide phosphate

NK

Natural killer

SCID

Severe combined immunodeficiency

STAT

Signal transducer and activator of transcription

Th

T-helper

WASP

Wiskott-Aldrich syndrome protein

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Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Charalampos Antachopoulos
    • 1
    • 2
  • Thomas J. Walsh
    • 1
  • Emmanuel Roilides
    • 2
  1. 1.Immunocompromised Host Section, Pediatric Oncology BranchNational Cancer InstituteBethesdaUSA
  2. 2.3rd Department of PediatricsAristotle University, Hippokration HospitalThessalonikiGreece

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