Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection

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Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection.

BACKGROUND Exophiala species are mostly responsible for skin infections. Invasive Exophiala dermatitidis disease is a rare and frequently fatal infection, with 42 cases reported. About half of these cases had no known risk factors. Similarly, invasive Exophiala spinifera disease is extremely rare, with only 3 cases reported, all in patients with no known immunodeficiency. Autosomal recessive CA...

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Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency Running title: CARD9 deficiency in neutrophils

1 Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, The Netherlands 2 Department of Experimental Immunology, Academic Medical Center, Amsterdam 3 Division of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg 4 Division of Pediatric Endocrinology, Centre Hospitalier de Luxembourg, Luxembourg 5 Division of Cell Biology, Dutch Cancer In...

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Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

Background Combined immunodeficiencies are marked by inborn errors of T-cell immunity in which the T cells that are present are quantitatively or functionally deficient. Impaired humoral immunity is also common. Patients have severe infections, autoimmunity, or both. The specific molecular, cellular, and clinical features of many types of combined immunodeficiencies remain unknown. Methods We p...

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Exophiala species are ubiquitous dematiaceous yeast-like fungi of the order Chaetothyriales that bear melanin-like pigment in their cell wall that is responsible for their dark color and is thought to be a major fungal virulence factor [1–3]. Among the agents of phaeohyphomycosis (cutaneous, subcutaneous, and invasive infections caused by dark-walled fungi), most human Exophiala infections are ...

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ژورنال

عنوان ژورنال: The Journal of Infectious Diseases

سال: 2014

ISSN: 1537-6613,0022-1899

DOI: 10.1093/infdis/jiu412