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Items: 2

1.

Abnormal proportion of CD4-positive T cells

Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells. [from HPO]

MedGen UID:
1619121
Concept ID:
C4531156
Finding
2.

Predisposition to invasive fungal disease due to CARD9 deficiency

A rare genetic primary immunodeficiency with characteristics of increased susceptibility to fungal infections that typically manifest as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis and deep dermatophytosis. Dermatophytes invade skin, hair, nails, lymph nodes and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis and lymphadenopathy. [from SNOMEDCT_US]

MedGen UID:
347128
Concept ID:
C1859353
Disease or Syndrome

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