A young girl with severe cerebral fungal infection due to card 9 deficiency

• Published in: Clinical immunology (Orlando, Fla.) Fla.), 2018-06, Vol.191, p.21-26
• Main Authors: Cetinkaya, Pinar Gur, Ayvaz, Deniz Cagdas, Karaatmaca, Betül, Gocmen, Rahsan, Söylemezoğlu, Figen, Bainter, Wayne, Chou, Janet, Chatila, Talal A., Tezcan, Ilhan
• Format: Article
• Language: English
• Subjects: Adolescent; CARD Signaling Adaptor Proteins - deficiency; CARD Signaling Adaptor Proteins - genetics; CARD9 deficiency; Central Nervous System Fungal Infections - etiology; Central Nervous System Fungal Infections - genetics; Central nervous system infection; Codon, Nonsense; Female; Fungal infection; Humans; Intracellular Signaling Peptides and Proteins - genetics; Mycoses - etiology; Mycoses - genetics; NLRP12
• ISSN: 1521-6616; 1521-7035
• DOI: 10.1016/j.clim.2018.01.002

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. •CARD9 has a crucial role against Candida infections in the brain and colon•Invasive candida infections are not reported in the course of other primary immunodeficiencies•Patients with CARD9 deficiency have invasive candida infections•NLRP12 mutation might be facilitated the invasive candida infection along with a CARD9 defect•CARD9 deficiency should be considered in the patients with resistant CNS symptoms, radiological findings compatible with invasive fungal infections and oral candidiasis