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Condition report · Immunological

Chronic Mucocutaneous Candidiasis

Inherited immune conditions that make people prone to persistent or recurring Candida (yeast) infections of the skin, nails and mouth, and in some forms to more serious fungal infections. They are caused by changes in genes of the IL-17 immune pathway and related genes.

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

Chronic mucocutaneous candidiasis

Persistent or recurrent Candida infections of the skin, nails and mucous membranes caused by changes in genes such as STAT1, IL17RA, IL17RC, IL17F and TRAF3IP2.

What a diagnosis changes

Knowing the cause guides long-term antifungal treatment and, for STAT1 gain-of-function, monitoring for autoimmunity and aneurysms and consideration of targeted JAK-inhibitor therapy.

Genes analysed

Also known as

CANDF; chronic mucocutaneous candidiasis (disease); CMC; familial candidiasis; familial chronic mucocutaneous candidiasis; familial CMC

Includes 12 related subtypes ↓
  • autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
  • candidiasis, familial, 1
  • candidiasis, familial, 3
  • candidiasis, familial, 4
  • candidiasis, familial, 6
  • candidiasis, familial, 8
  • candidiasis, familial, 9
  • chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation
  • chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation
  • chronic mucocutaneous candidiasis due to lymphokine deficiency
  • chronic mucocutaneous candidiasis due to monocyte chemotactic disorder
  • immunodeficiency 51
MONDO:0015279Orphanet 1334MedGen 2426

CARD9 deficiency

Autosomal recessive

Caused by changes in the CARD9 gene, it predisposes to invasive fungal infections, including fungal infections of the brain, as well as chronic Candida infections.

What a diagnosis changes

Early diagnosis allows antifungal prophylaxis and prompt treatment of fungal infections.

Genes analysed

Also known as

CANDF2; candidiasis familial chronic mucocutaneous, autosomal recessive; candidiasis, familial, 2; candidiasis, familial, 2, autosomal recessive; candidiasis, familial, type 2; invasive candidiasis-deep dermatophytosis syndrome

MONDO:0008905OMIM 212050Orphanet 457088MedGen 347128

Other immunological conditions

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