Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib

We present a case of a white adult female patient who suffered from chronic mucocutaneous candidiasis (CMC) since infancy. Her parents were not consanguineous, and neither of them nor any other family member, including an older sister, suffered from similar symptoms. The patient often received prolo...

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Bibliographic Details
Published in:Central-European journal of immunology 2022-01, Vol.47 (1), p.92-94
Main Authors: Bazan-Socha, Stanisława, Gradzikiewicz, Ada, Celińska-Lowenhoff, Magdalena, Matyja-Bednarczyk, Aleksandra, Maciołek, Anna, Bąbol-Pokora, Katarzyna
Format: Article
Language:English
Subjects:
Antibiotics
Atopic dermatitis
Candidiasis
Chronic mucocutaneous candidiasis
Dermatitis
Diabetes mellitus (insulin dependent)
Diarrhea
Differential diagnosis
Dystrophy
Genetic disorders
Immunoglobulin G
Immunoglobulins
Letter to the Editor
Mycosis
Pancytopenia
Point mutation
Stat1 protein
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Summary:We present a case of a white adult female patient who suffered from chronic mucocutaneous candidiasis (CMC) since infancy. Her parents were not consanguineous, and neither of them nor any other family member, including an older sister, suffered from similar symptoms. The patient often received prolonged courses of antifungal antibiotics, but the regimens were always insufficiently effective. The differential diagnosis included atopic dermatitis or acrodermatitis enteropathica, a rare, usually genetic disorder of zinc metabolism characterized by pustular dermatitis, diarrhea, and nail dystrophy. At the age of 18, the patient was diagnosed with type 1 diabetes mellitus. Five years later, human immunoglobulin substitution was started due to immunoglobulin (Ig) G2 and IgG4 mild deficiency.
ISSN:1426-3912
1644-4124
DOI:10.5114/ceji.2022.114884