ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
CARD9 deficiency
Other Resources UpToDate PubMed

CARD9 deficiency

Contributors: Catherine J. Wang, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Caspase recruitment domain family member 9 (CARD9) deficiency is an autosomal recessive primary immunodeficiency disorder in which patients have compromised antifungal immunity due to the impaired function of an antifungal pattern-recognition receptor, dectin-1. CARD9 deficiency can present early in childhood or later in adulthood (up to 48 years), with 9 years as the median age of onset in a review of 58 patients.

Clinical manifestations include chronic mucocutaneous candidiasis (CMC), dermatophytosis, or invasive candidiasis (eg, Candida meningitis). Deep dermatophytosis is the rare occurrence of invasion of dermatophytes into the dermis and subcutaneous tissue, lymph nodes, and, very rarely, systemic sites such as the central nervous system (CNS) and bone. Trichophyton violaceum and Trichophyton rubrum have been reported as pathogens. To date, patients with CARD9 deficiency have only been identified with fungal infections from the phylum Ascomycota, which include Candida, Aspergillus, Trichophyton, Exophiala, and others. CARD9-deficient patients do not seem to be at increased risk of infection from other common opportunistic fungal, viral, or bacterial infections.

For more information, see OMIM.

Codes

ICD10CM:
D84.8 – Other specified immunodeficiencies

SNOMEDCT:
240716009 – Familial chronic mucocutaneous candidiasis - recessive type

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Causes of invasive fungal disease:

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed:07/19/2020
Last Updated:07/29/2020
Copyright © 2022 VisualDx®. All rights reserved.
CARD9 deficiency
Print  
CARD9 deficiency : Eosinophilia
Copyright © 2022 VisualDx®. All rights reserved.