Extrapulmonary Aspergillus infection in patients with CARD9 deficiency

JCI Insight

Volumn 1, Issue 17, 2021, Pages

  Rieber, Nikolaus ^a,b   Gazendam, Roel P ^c   Freeman, Alexandra F ^d   Hsu, Amy P ^d   Collar, Amanda L ^d   Sugui, Janyce A ^d   Drummond, Rebecca A ^d   Rongkavilit, Chokechai ^e   Hoffman, Kevin ^f   Henderson, Carolyn ^d   Clark, Lily ^d   Mezger, Markus ^a   Swamydas, Muthulekha ^d   Engeholm, Maik ^g   Schüle, Rebecca ^g   Neumayer, Bettina ^h   Ebel, Frank ⁱ   Mikelis, Constantinos M ^j   Pittaluga, Stefania ^k   Prasad, Vinod K ^l   Singh, Anurag ^a   Milner, Joshua D ^d   Williams, Kelli W ^d   Lim, Jean K ^e   Kwon Chung, Kyung J ^d   Holland, Steven M ^d   Hartl, Dominik ^a   Kuijpers, Taco W ^c   Lionakis, Michail S ^d   more..

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^e CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

^f MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF TÜBINGEN   (Germany)

^h UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

ⁱ UNIVERSITY OF MUNICH   (Germany)

^j TEXAS TECH UNIVERSITY HEALTH SCIENCES CENTER   (United States)

^k NATIONAL CANCER INSTITUTE   (United States)

^l DUKE UNIVERSITY MEDICAL CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMPHOTERICIN B; CARRIER PROTEIN; CASPASE RECRUITMENT DOMAIN FAMILY MEMBER 9 PROTEIN; ITRACONAZOLE; UNCLASSIFIED DRUG;

ABDOMINAL INFECTION; ABDOMINAL PAIN; ADULT; ARTICLE; ASPERGILLUS FUMIGATUS; BODY WEIGHT LOSS; BRAIN BIOPSY; CANDIDIASIS; CASE REPORT; CASEATING GRANULOMA; CASPASE RECRUITMENT DOMAIN FAMILY MEMBER 9 PROTEIN DEFICIENCY; CENTRAL NERVOUS SYSTEM ASPERGILLOSIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CORD BLOOD STEM CELL TRANSPLANTATION; CYTOKINE PRODUCTION; CYTOREDUCTIVE SURGERY; DISEASE DURATION; EXTRAPULMONARY ASPERGILLOSIS; FEVER; GENE MUTATION; GRAFT FAILURE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRAABDOMINAL ASPERGILLOSIS; INTRAABDOMINAL CANDIDIASIS; INVASIVE ASPERGILLOSIS; LIVER VENOOCCLUSIVE DISEASE; LUNG HEMORRHAGE; MALE; MONOCYTE; MONONUCLEAR CELL; MUTATIONAL ANALYSIS; NEUTROPHIL CHEMOTAXIS; NEUTROPHIL COUNT; NEUTROPHIL PHAGOCYTOSIS; PHAGOCYTOSIS; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; RESPIRATORY BURST; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SANGER SEQUENCING; SCHOOL CHILD; SPASTIC PARAPLEGIA; TH17 CELL; THRUSH; WHOLE EXOME SEQUENCING; YOUNG ADULT;

EID: 85071781760     PISSN: None     EISSN: 23793708     Source Type: Journal    
DOI: 10.1172/jci.insight.89890     Document Type: Article

References (39)

1. Garcia-Vidal C, Viasus D, Carratala J. Pathogenesis of invasive fungal infections. Curr Opin Infect Dis. 2013;26(3):270-276.
2. Brown GD, Denning DW, Gow NA, Levitz SM, Netea MG, White TC. Hidden killers: human fungal infections. Sci Transl Med. 2012;4(165):165rv13.
3. Segal BH. Aspergillosis. N Engl J Med. 2009;360(18):1870-1884.
4. Lionakis MS, Netea MG, Holland SM. Mendelian genetics of human susceptibility to fungal infection. Cold Spring Harb Perspect Med. 2014;4(6).
5. Spinner MA, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123(6):809-821.
6. Lanternier F, et al. Primary immunodeficiencies underlying fungal infections. Curr Opin Pediatr. 2013;25(6):736-747.
7. Netea MG, et al. Immune sensing of Candida albicans requires cooperative recognition of mannans and glucans by lectin and Toll-like receptors. J Clin Invest. 2006;116(6):1642-1650.
8. Drummond RA, Brown GD. Signalling C-type lectins in antimicrobial immunity. PLoS Pathog. 2013;9(7):e1003417.
9. Gazendam RP, et al. Two independent killing mechanisms of Candida albicans by human neutrophils: evidence from innate immunity defects. Blood. 2014;124(4):590-597.
10. Picard C, Casanova JL, Puel A. Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency. Clin Microbiol Rev. 2011;24(3):490-497.
11. Robinson MJ, Sancho D, Slack EC, LeibundGut-Landmann S, Reis e Sousa C. Myeloid C-type lectins in innate immunity. Nat Immunol. 2006;7(12):1258-1265.
12. Glocker EO, et al. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med. 2009;361(18):1727-1735.
13. Lanternier F, et al. Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both. J Allergy Clin Immunol. 2015;135(6):1558-68.e2.
14. Drummond RA, et al. CARD9-dependent neutrophil recruitment protects against fungal invasion of the central nervous system. PLoS Pathog. 2015;11(12):e1005293.
15. Lanternier F, et al. Deep dermatophytosis and inherited CARD9 deficiency. N Engl J Med. 2013;369(18):1704-1714.
16. Liang P, Wang X, Wang R, Wan Z, Han W, Li R. CARD9 deficiencies linked to impaired neutrophil functions against Phialophora verrucosa. Mycopathologia. 2015;179(5-6):347-357.
17. Lanternier F, et al. Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection. J Infect Dis. 2015;211(8):1241-1250.
18. Gross O, et al. Card9 controls a non-TLR signalling pathway for innate anti-fungal immunity. Nature. 2006;442(7103):651-656.
19. Drewniak A, et al. Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency. Blood. 2013;121(13):2385-2392.
20. Rieber N, et al. Pathogenic fungi regulate immunity by inducing neutrophilic myeloid-derived suppressor cells. Cell Host Microbe. 2015;17(4):507-514.
21. Svenson IK, et al. Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. Am J Hum Genet. 2001;68(5):1077-1085.
22. Adzhubei IA, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248-249.
23. Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46(3):310-315.
24. Gavino C, et al. Impaired RASGRF1/ERK-mediated GM-CSF response characterizes CARD9 deficiency in French-Canadians. J Allergy Clin Immunol. 2016;137(4):1178-88.e1.
25. Herbst M, et al. Chronic Candida albicans meningitis in a 4-year-old girl with a homozygous mutation in the CARD9 gene (Q295X). Pediatr Infect Dis J. 2015;34(9):999-1002.
26. Cramer RA, Rivera A, Hohl TM. Immune responses against Aspergillus fumigatus: what have we learned? Curr Opin Infect Dis. 2011;24(4):315-322.
27. Latge JP. Aspergillus fumigatus and aspergillosis. Clin Microbiol Rev. 1999;12(2):310-350.
28. Jhingran A, et al. Compartment-specific and sequential role of MyD88 and CARD9 in chemokine induction and innate defense during respiratory fungal infection. PLoS Pathog. 2015;11(1):e1004589.
29. Drummond RA, Lionakis MS. Mechanistic insights into the role of C-type lectin receptor/CARD9 signaling in human antifungal immunity. Front Cell Infect Microbiol. 2016;6:39.
30. Berenguer J, et al. Pathogenesis of pulmonary aspergillosis. Granulocytopenia versus cyclosporine and methylprednisolone-induced immunosuppression. Am J Respir Crit Care Med. 1995;152(3):1079-1086.
31. Lionakis MS, Kontoyiannis DP. Glucocorticoids and invasive fungal infections. Lancet. 2003;362(9398):1828-1838.
32. Wang X, et al. CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies. J Allergy Clin Immunol. 2014;133(3):905-908.e3.
33. Caffrey AK, et al. IL-1α signaling is critical for leukocyte recruitment after pulmonary Aspergillus fumigatus challenge. PLoS Pathog. 2015;11(1):e1004625.
34. Drewniak A, Tool AT, Geissler J, van Bruggen R, van den Berg TK, Kuijpers TW. Toll-like receptor-induced reactivity and strongly potentiated IL-8 production in granulocytes mobilized for transfusion purposes. Blood. 2010;115(22):4588-4596.
35. Sugui JA, et al. Role of laeA in the regulation of alb1, gliP, conidial morphology, and virulence in Aspergillus fumigatus. Eukaryotic Cell. 2007;6(9):1552-1561.
36. Tsai HF, Chang YC, Washburn RG, Wheeler MH, Kwon-Chung KJ. The developmentally regulated alb1 gene of Aspergillus fumigatus: its role in modulation of conidial morphology and virulence. J Bacteriol. 1998;180(12):3031-3038.
37. McCluskey K. The Fungal Genetics Stock Center: from molds to molecules. Adv Appl Microbiol. 2003;52:245-262.
38. Sugui JA, et al. Genes differentially expressed in conidia and hyphae of Aspergillus fumigatus upon exposure to human neutrophils. PLoS One. 2008;3(7):e2655.
39. Meshulam T, Levitz SM, Christin L, Diamond RD. A simplified new assay for assessment of fungal cell damage with the tetrazolium dye, (2, 3)-bis-(2-methoxy-4-nitro-5-sulphenyl)-(2H)-tetrazolium-5-carboxanil ide (XTT). J Infect Dis. 1995;172(4):1153-1156.