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


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.


Primary immunodeficiencies Fungal infections Antifungal agents Candida Aspergillus 



Autoimmune regulator


Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy


Chronic granulomatous disease


Chronic mucocutaneous candidiasis


Computed tomography


Common variable immunodeficiency


Granulocyte colony-stimulating factor


Human immunodeficiency virus






Leukocyte adhesion deficiencies


Magnetic resonance imaging


Nicotinamide adenine dinucleotide phosphate


Natural killer


Severe combined immunodeficiency


Signal transducer and activator of transcription




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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