Primary immunodeficiency update

Article ID	Journal	Published Year	Pages	File Type
6070281	Journal of the American Academy of Dermatology	2015	15 Pages	PDF

Abstract

Several primary immunodeficiencies (PIDs) have recently been described that confer an elevated risk of fungal infections and noninfectious cutaneous manifestations. In addition, immunologic advances have provided new insights into our understanding of the pathophysiology of fungal infections in established PIDs. We reviewed PIDs that present with an eczematous dermatitis in part I. In part II of this continuing medical education article we discuss updates on PIDs associated with fungal infections, their biologic basis in PIDs, and noninfectious cutaneous manifestations.

Keywords

CARD9 PRR NIH CXCL12 Treg MST1 STAT3 HSCT WHIM GATA2 APS-1 RAG DOCK8 APECED mTEC COL1A1-PDGFB DFSP Autoimmune polyendocrine syndrome type 1 TNF AML SCID SDF-1 PAMPs PID MDS GOF CMC CXCR4 TLR NF-κB natural killer T regulatory adenosine deaminase Autosomal recessive pathogen-associated molecular patterns EBV interleukin Gain of function autoimmune regulator Toll-like receptor Dermatofibrosarcoma Protuberans medullary thymic epithelial cell Omenn syndrome myelodysplastic syndrome stromal cell-derived factor-1 tumor necrosis factor Nuclear factor-kappa B Recombination Activating Gene acute myeloid leukemia NIH, National Institutes of Health signal transducer and activator of transcription 3 Dedicator of cytokinesis 8 AIRE ADA Wild Epstein–Barr virus Human papillomavirus HPV Plaid Hematopoietic stem cell transplant chronic mucocutaneous candidiasis primary immunodeficiency severe combined immunodeficiency disease PRR, Pattern recognition receptor