Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib
Stanisława Bazan‐SochaAda GradzikiewiczMagdalena Celińska‐LöwenhoffAleksandra Matyja‐BednarczykAnna MaciołekKatarzyna Bąbol‐Pokora
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ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Bazan-Socha S, Gradzikiewicz A, Celińska-Lowenhoff M, Matyja-Bednarczyk A, Maciołek A, Bąbol-Pokora K. Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib. Central European Journal of Immunology. 2022;47(1):92-94. doi:10.5114/ceji.2022.114884. APA Bazan-Socha, S., Gradzikiewicz, A., Celińska-Lowenhoff, M., Matyja-Bednarczyk, A., Maciołek, A., & Bąbol-Pokora, K. (2022). Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib. Central European Journal of Immunology, 47(1), 92-94. https://doi.org/10.5114/ceji.2022.114884 Chicago Bazan-Socha, Stanisława, Ada Gradzikiewicz, Magdalena Celińska-Lowenhoff, Aleksandra Matyja-Bednarczyk, Anna Maciołek, and Katarzyna Bąbol-Pokora. 2022. "Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib". Central European Journal of Immunology 47 (1): 92-94. doi:10.5114/ceji.2022.114884. Harvard Bazan-Socha, S., Gradzikiewicz, A., Celińska-Lowenhoff, M., Matyja-Bednarczyk, A., Maciołek, A., and Bąbol-Pokora, K. (2022). Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib. Central European Journal of Immunology, 47(1), pp.92-94. https://doi.org/10.5114/ceji.2022.114884 MLA Bazan-Socha, Stanisława et al. "Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib." Central European Journal of Immunology, vol. 47, no. 1, 2022, pp. 92-94. doi:10.5114/ceji.2022.114884. Vancouver Bazan-Socha S, Gradzikiewicz A, Celińska-Lowenhoff M, Matyja-Bednarczyk A, Maciołek A, Bąbol-Pokora K. Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib. Central European Journal of Immunology. 2022;47(1):92-94. doi:10.5114/ceji.2022.114884.Keywords:
Chronic mucocutaneous candidiasis
Mucocutaneous zone
Ruxolitinib
Chronic mucocutaneous candidiasis is a chronic infection of mucoses, nails and skin due to Candida sp., that does not respond to standard treatment. We report on three patients with chronic mucocutaneous candidiasis in association with iron deficiency, IgA deficiency in one patient and adult onset in another. We review the clinical manifestations, the classification and the treatment of this disorder. The immunologic defects associated with chronic mucocutaneous candidiasis provide a model to study the mechanisms of defense of the host against fungal infections.
Chronic mucocutaneous candidiasis
Mucocutaneous zone
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Хронічний шкірно слизовий кандидоз -нозологічна форма первинного імунодефіциту у дітей. Випадок шкірно слизового кандидозу в дитини
Chronic mucocutaneous candidiasis
Mucocutaneous zone
Primary Immunodeficiency
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Chronic mucocutaneous candidiasis
Mucocutaneous zone
Systemic candidiasis
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CHRONIC mucocutaneous candidiasis is a clinical syndrome characterized by chronic oral candidiasis (thrush), cutaneous candidiasis, and candidal nail involvement. Endocrine abnormalities are common. The syndrome may be familial or sporadic with onset in infancy or in adulthood.1 The case described represents a generally unappreciated variation in the syndrome—dermatophyte infection of the skin. Recognition of this variant has a considerable clinical relevance. This subgenus of the syndrome also suggests a different pathogenetic process than that presumed involved in chronic candidiasis.
Report of a Case
A 15-year-old boy has had lesions of the left eyelid, mouth, fingernails, and toenails since shortly after birth. The working diagnosis was candidiasis. Topically applied agents including tolnaftate, nystatin, and haloprogin had been given extensive trial with no benefit. Transfer factor equivalent to 1 × 108 cells was given four times with no clinical improvement. No family history of skin disease was elicited. Physical examination atMucocutaneous zone
Chronic mucocutaneous candidiasis
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Epidemiological assessment of mucocutaneous infections in patients with recurrent infection syndrome
Abstract Background Recurrent infection syndrome (RIS) results from repeated interactions between hosts and environmental infectious agents and is considered normal (NRIS) because of its benign evolution and positive effects in the development of normal immune responses. Abnormal RIS (ARIS) is characterized by the unusually high frequency of severe infections, either as a result of anatomical or functional abnormalities or due to primary or secondary immunodeficiencies (PIDs and SIDs, respectively). Recurrent mucocutaneous infections (MCIs) can be manifestations of RIS or ARIS and could be more frequent in primary immunodeficiencies. Similarly, etiologic agents might vary from what is observed in the general population. Methods We carried out a descriptive study to determine the prevalence of aerobic bacterial and fungal mucocutaneous infections in 452 patients with recurrent infections, using clinical records to establish immunological status associated with the presence and characteristics of the infections. Microbiological analyses from mucocutaneous lesions were used to confirm the etiology. Results We found mucocutaneous infections in 50 patients for a total of 62 episodes (bacterial or fungal infections in 38 vs. 12 patients, respectively). Mucocutaneous infections were more frequent (21.8% vs. 9.1%; OR = 2.8) and recurrent (8.7% vs. 0.2%; P = 0.000) in primary immunodeficient patients. Furthermore, those with defects in phagocytic cells presented more mucocutaneous infections (56.2%) than patients with other primary immunodeficiencies (11.3%; OR = 10.1). Conclusions Bacterial and fungal mucocutaneous infections are more frequent and severe in primary immunodeficient patients, particularly those with defective phagocytosis. Early and adequate assessment of the nature of mucocutaneous infections in ARIS should impact the ability of physicians to treat promptly, avoid complications and reduce the costs of medical assistance.
Mucocutaneous zone
Chronic mucocutaneous candidiasis
Etiology
Primary Immunodeficiency
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Chronic mucocutaneous candidiasis (CMC) is a rare disease associated with immunodeficiency and characterized by persistent and refractory infections of the skin, appendages and mucous membranes caused by members of the genus Candida. Several different disorders are classified under this common denominator, including chronic and recurrent mucocutaneous infections due to Candida spp., which are sometimes linked to autoimmune endocrinopathies. These fungal infections are usually confined to the mucocutaneous surface, with little propensity for systemic disease or septicemia. We describe a patient with CMC who had an esophageal candidiasis refractory to treatment for decades and who developed an epidermoid esophageal cancer. No risk factors such as familiar susceptibility, smoking, alcohol drinking, or living in an endemic area were verified. This case report suggests the participation of nitrosamine compounds produced by chronic Candida infections as a risk factor for esophageal cancer in a patient with autosomal-dominant chronic mucocutaneous candidiasis.
Chronic mucocutaneous candidiasis
Mucocutaneous zone
Esophageal candidiasis
Refractory (planetary science)
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Chronic mucocutaneous candidiasis (CMC) is characterized by susceptibility to Candida infection of skin, nails, and mucous membranes. Autoimmune endocrinopathies are common in CMC patients, but there are no reports of the involvement of systemic autoimmune disorders. We present here the first case of this kind of association in a patient with an autosomal dominant variant of CMC. The individual had had this disorder since childhood and systemic lupus erythematosus with secondary antiphospholipid syndrome, as well as renal, articular and hepatic manifestations without thymoma.
Chronic mucocutaneous candidiasis
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Systemic candidiasis
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Chronic mucocutaneous candidiasis
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Chronic mucocutaneous candidiasis
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A controlled cross-over study with transfer factor was carried out on 7 patients suffering from chronic mucocutaneous candidiasis. Only one patient showed clinical improvement, which started during a period of pretreatment with 5-fluorocytosine given orally 14 days before the patient entered this trial. No conversion to a positive skin test with Candida antigen or PPD was demonstrated following TF in the 6 patients who were anergic to either of these antigens. Variations in the cell-mediated immune response as revealed by lymphocyte transformation were observed in most patients, especially when studied over a long period of time. However, no pronounced efficacy of TF vis-à-vis placebo in normalizing the cell-mediated immune response could be demonstrated in the 5 patients who completed the clinical trial. Systemic side effects were not observed.
Chronic mucocutaneous candidiasis
Mucocutaneous zone
Transfer factor
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