A young girl with severe cerebral fungal infection due to card 9 deficiency.
Pattern recognition receptors (PRRs), receptors of the innate immune system, are important in interaction with pathogens. Caspase Recruitment Domain-containing protein 9 (CARD9), a member of PRRs, is an intracellular adaptor protein important in fungal defense. CARD9 deficiency causes a rare primary immunodeficiency (PID) characterized by superficial and deep fungal infections. We report a 17year-old female with a homozygous nonsense mutation in CARD9, who presented with severe cerebral fungal infection of the central nervous system. She was also found to have an heterozygous NLRP12 mutation, which may have had add-on effect on the severity of the infection.
['Cetinkaya|Pinar Gur|PG|', 'Ayvaz|Deniz Cagdas|DC|', 'Karaatmaca|Betül|B|', 'Gocmen|Rahsan|R|', 'Söylemezoğlu|Figen|F|', 'Bainter|Wayne|W|', 'Chou|Janet|J|', 'Chatila|Talal A|TA|', 'Tezcan|Ilhan|I|']
D000293:Adolescent D053468:CARD Signaling Adaptor Proteins D020314:Central Nervous System Fungal Infections D018389:Codon, Nonsense D005260:Female D006801:Humans D047908:Intracellular Signaling Peptides and Proteins D009181:Mycoses
Fungal infection CARD9 deficiency NLRP12 Central nervous system infection