Abstract
Children with chronic mucocutaneous candidiasis (CMC) experience recurrent infections with Candida spp. Moreover, immune dysregulation in the early life of these patients induces various autoimmune diseases and affects normal growth and development. The adaptive and innate immune system components play a significant role in anti-fungal response. This response is mediated through IL-17 production by T helper cells. Inborn errors in IL-17-mediated pathways or Candida spp. sensing molecules are known to cause CMC. In this review, we describe underlying immune mechanisms of monogenic primary immune deficiency disorders known to cause CMC. We will explore insights into current management of these patients and novel available therapies.
Highlights
Children with chronic mucocutaneous candidiasis (CMC) experience recurrent infections with Candida spp
Impairments in the adaptive response can be further subdivided into decreased IL-17 cytokine production, impaired IL-17-mediated intracellular signaling or increased peripheral neutralization by anti-IL-17 autoantibodies
Hyper IgE Syndromes Another striking example of impaired Th17 differentiation is STAT3 LOF mutations known to cause autosomal dominant hyper immunoglobulin E syndrome (AD-HIES)
Summary
Children with chronic mucocutaneous candidiasis (CMC) experience recurrent infections with Candida spp. CMC can involve the vagina, esophagus, skin, and other organs. Severe immune dysregulation in the early life of these patients induces various autoimmune diseases and affects normal growth and development. Advances in genetic tests in the recent decade have expanded our knowledge of underlying immune mechanisms in CMC, elucidating an increasing number of newly defined primary immune-deficiency disorders [4]. An in-depth characterization of the impaired immune pathways associated with CMC is critical in order to offer treatment tailored to the individual patient. We describe monogenic primary immune-deficiency disorders known to cause CMC. Based on insights into underlying immune mechanisms, we explore different targeted therapies currently available or under development for these patients
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