Deep Dermatophytosis and Inherited CARD9 Deficiency

Posaconazole treatment of extensive skin and nail dermatophytosis due to autosomal recessive deficiency of CARD9.

IMPORTANCE Deep dermatophytosis is a disease that involves dermatophytic infection of the dermis and/or lymph nodes and sometimes the central nervous system. Autosomal recessive deficiency of the CARD9 (caspase recruitment domain 9) protein has been described in 17 patients with deep dermatophytosis from Algeria, Tunisia, and Morocco. OBSERVATIONS We report a case of extensive dermatophytosis...

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...

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...

INHERITED DEFICIENCY OF Mac

The lymphocyte function-associated 1 (LFA-1), ~ Mac-l, and p150,95 molecules constitute a family of structurally and functionally related, high molecular weight, human leukocyte surface glycoproteins (1). Each molecule contains an a and a 3 subunit noncovalently associated in an al31 structure. The 3 subunits of Mr 95,000 in each of these three molecules are identical. The molecules are disting...

Inherited factor VII deficiency