101 Case Report: Recurrent Mucocutaneous Candidiasis and Recurrent Diarrhea by Gram Negative Bacteria

BACKGROUND: Primary Immunodeficiencies (PID) are inherited disorders of immune system function that predispose affected individuals to increased rate and severity of infection, immune dysregulation with autoimmune disease, and malignancy.1 In Peru there is a sub diagnosis and report of these diseases. METHODS: I present a case of a 7 month girl with recurrent mucocutaneous candidiasis and recurrent diarrhea by gram negative bacteria. Patient's current illness start at 3 days of age with macular anular lesions in skin and thrush, with poor response to topical antifungals and oral Itraconazole. Resolved with IV Amphotericin and then Posaconazole. Recurrence few days after treatment withdrawal. Culture of the lesions: Candida albicans. At 1 month of age she starts with recurrent diarrhea. Stool culture: Escherichia coli, Klebsiella pneumoniae. Intermittent fever coincident with the worsening of diarrhea or thrush lesions. Sepsis in one opportunity. Poor weight gain. We requested some procedures. RESULTS: IgM (+) to CMV, positive viral load by PCR, asymptomatic, received ganciclovir. Chest CT: thymus with normal size. HIV: negative. Normal: WBC, glucose, creatinine, IgG, IgA, IgM, abdominal US, echocardiography. Flux cytometry (at 3 months of age): WBC = 13,040; Total lymphocytes = 4564; T CD4 = 1734; T CD8 = 1121; B cells = 913; NK cells = 574. GENETIC ANALYSIS: Gain-of-function human STAT1 mutation. Diagnosis: Chronic mucocutaneous candidiasis associated with STAT1 mutation. CONCLUSIONS: Susceptibility to Candida sp has been described in combined immunodeficiency, phagocyte defects, or other immune defects resulting from mutations in AIRE, CARD9, dectin1, dectin2, NLRP3, STAT3 or MyD88.2 As described in this case, the gain-of-function STAT1 mutation can also result in susceptibility to candida. There is a huge work to do in the field of PI in Peru. There has been until now a subdiagnosis and subreport of PI, but we have recently started working hard in purpose of giving affected patients a specific diagnosis and appropriate treatment.