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Published in: Current Fungal Infection Reports 4/2018

01-12-2018 | Current Management of Fungal Infections (J Maertens, Section Editor)

Patients with Primary Immunodeficiencies: How Are They at Risk for Fungal Disease?

Authors: Giorgia Bucciol, Leen Moens, Isabelle Meyts

Published in: Current Fungal Infection Reports | Issue 4/2018

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Abstract

Purpose of Review

In this review, we focus on the inborn errors of immunity known to render the host susceptible to fungal infections, including candidias, aspergillosis, dermatophytosis, phaeohyphomycosis, pneumocystosis, fusariosis, cryptococcosis, and endemic mycoses.

Recent Findings

Classically, the burden of fungal disease in humans is believed to be carried by patients with a secondary immunodeficiency, either due to malignancy, to chemotherapy, to an immunocompromised state post hematopoietic stem cell transplantation, or to treatment with anti-cytokine therapies. However, in the last decade, the study of patients affected by fungal infections without any overt risk factors has led to the unraveling of several monogenic defects of human immunity to fungi. The study of these inborn errors of immunity has added vastly to our comprehension of antifungal immunity. For example, the role of IL-17 immunity in human defense against mucocutaneous candidiasis has been extensively characterized through the analysis of IL-17F, IL-17RA, IL-17Rc, ACT1, RORγT and, indirectly, CARD9 deficiency.

Summary

Many monogenic causes of susceptibility to superficial and/or invasive fungal infections have been recently unraveled. Most of these inborn errors of immunity associate with a specific type of fungal infection, and such a defect should always be suspected and sought in patients affected by fungal infection in the absence of predisposing factors.
Literature
1.
go back to reference Chastain DB, Henao-Martínez AF, Franco-Paredes C. Opportunistic invasive mycoses in AIDS: cryptococcosis, histoplasmosis, coccidiodomycosis, and talaromycosis. Curr Infect Dis Rep. 2017;19(10):36.PubMed Chastain DB, Henao-Martínez AF, Franco-Paredes C. Opportunistic invasive mycoses in AIDS: cryptococcosis, histoplasmosis, coccidiodomycosis, and talaromycosis. Curr Infect Dis Rep. 2017;19(10):36.PubMed
2.
go back to reference Kullberg BJ, Arendrup MC. Invasive candidiasis. N Engl J Med. 2015;373(15):1445–56.PubMed Kullberg BJ, Arendrup MC. Invasive candidiasis. N Engl J Med. 2015;373(15):1445–56.PubMed
3.
go back to reference Pana ZD, Roilides E, Warris A, Groll AH, Zaoutis T. Epidemiology of invasive fungal disease in children. J Pediatric Infect Dis Soc. 2017;6(suppl_1):S3–11.PubMedPubMedCentral Pana ZD, Roilides E, Warris A, Groll AH, Zaoutis T. Epidemiology of invasive fungal disease in children. J Pediatric Infect Dis Soc. 2017;6(suppl_1):S3–11.PubMedPubMedCentral
4.
go back to reference •• Li J, Vinh DC, Casanova J-L, Puel A. Inborn errors of immunity underlying fungal diseases in otherwise healthy individuals. Curr Opin Microbiol. 2017;40:46–57 Comprehensive review of the disorders of Il-17 immunity and CARD9 deficiency underlying fungal infections. PubMed •• Li J, Vinh DC, Casanova J-L, Puel A. Inborn errors of immunity underlying fungal diseases in otherwise healthy individuals. Curr Opin Microbiol. 2017;40:46–57 Comprehensive review of the disorders of Il-17 immunity and CARD9 deficiency underlying fungal infections. PubMed
5.
go back to reference Lanternier F, Cypowyj S, Picard C, Bustamante J, Lortholary O, Casanova J-L, et al. Primary immunodeficiencies underlying fungal infections. Curr Opin Pediatr. 2013;25(6):736–47.PubMedPubMedCentral Lanternier F, Cypowyj S, Picard C, Bustamante J, Lortholary O, Casanova J-L, et al. Primary immunodeficiencies underlying fungal infections. Curr Opin Pediatr. 2013;25(6):736–47.PubMedPubMedCentral
6.
go back to reference Vinh DC. Insights into human antifungal immunity from primary immunodeficiencies. Lancet Infect Dis. 2011;11(10):780–92.PubMed Vinh DC. Insights into human antifungal immunity from primary immunodeficiencies. Lancet Infect Dis. 2011;11(10):780–92.PubMed
7.
go back to reference • Limon JJ, Skalski JH, Underhill DM. Commensal fungi in health and disease. Cell Host Microbe. 2017;22(2):156–65 Review of the commensal human mycobiota. PubMedPubMedCentral • Limon JJ, Skalski JH, Underhill DM. Commensal fungi in health and disease. Cell Host Microbe. 2017;22(2):156–65 Review of the commensal human mycobiota. PubMedPubMedCentral
8.
go back to reference Brandt ME, Lockhart SR. Recent taxonomic developments with candida and other opportunistic yeasts. Curr Fungal Infect Rep. 2012;6(3):170–7.PubMedPubMedCentral Brandt ME, Lockhart SR. Recent taxonomic developments with candida and other opportunistic yeasts. Curr Fungal Infect Rep. 2012;6(3):170–7.PubMedPubMedCentral
9.
go back to reference • Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM. Severe combined immunodeficiencies and related disorders. Nat Rev Dis Primers. 2015;1:15061 Comprehensive review of the different genetic and phenotypic characteristics of SCID and CID. PubMed • Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM. Severe combined immunodeficiencies and related disorders. Nat Rev Dis Primers. 2015;1:15061 Comprehensive review of the different genetic and phenotypic characteristics of SCID and CID. PubMed
10.
go back to reference Dvorak CC, Cowan MJ, Logan BR, Notarangelo LD, Griffith LM, Puck JM, et al. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J Clin Immunol. 2013;33(7):1156–64.PubMedPubMedCentral Dvorak CC, Cowan MJ, Logan BR, Notarangelo LD, Griffith LM, Puck JM, et al. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J Clin Immunol. 2013;33(7):1156–64.PubMedPubMedCentral
11.
go back to reference Picard C, Casanova J-L, Puel A. Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency. Clin Microbiol Rev. 2011;24(3):490–7.PubMedPubMedCentral Picard C, Casanova J-L, Puel A. Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency. Clin Microbiol Rev. 2011;24(3):490–7.PubMedPubMedCentral
12.
go back to reference Schimke LF, Rieber N, Rylaarsdam S, Cabral-Marques O, Hubbard N, Puel A, et al. A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. J Clin Immunol. 2013;33(6):1088–99.PubMed Schimke LF, Rieber N, Rylaarsdam S, Cabral-Marques O, Hubbard N, Puel A, et al. A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. J Clin Immunol. 2013;33(6):1088–99.PubMed
13.
go back to reference Hanson EP, Monaco-Shawver L, Solt LA, Madge LA, Banerjee PP, May MJ, et al. Hypomorphic nuclear factor-κB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol. 2008;122(6):1169–1177.e16.PubMedPubMedCentral Hanson EP, Monaco-Shawver L, Solt LA, Madge LA, Banerjee PP, May MJ, et al. Hypomorphic nuclear factor-κB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol. 2008;122(6):1169–1177.e16.PubMedPubMedCentral
14.
go back to reference Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol. 2015;35(2):189–98.PubMed Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol. 2015;35(2):189–98.PubMed
15.
go back to reference Chu EY, Freeman AF, Jing H, Cowen EW, Davis J, Su HC, et al. Cutaneous manifestations of DOCK8 deficiency syndrome. Arch Dermatol. 2012;148(1):79–84.PubMed Chu EY, Freeman AF, Jing H, Cowen EW, Davis J, Su HC, et al. Cutaneous manifestations of DOCK8 deficiency syndrome. Arch Dermatol. 2012;148(1):79–84.PubMed
16.
go back to reference Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, et al. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2015;136(2):402–12.PubMedPubMedCentral Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, et al. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2015;136(2):402–12.PubMedPubMedCentral
17.
go back to reference Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123(6):809–21.PubMedPubMedCentral Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123(6):809–21.PubMedPubMedCentral
18.
go back to reference •• Okada S, Puel A, Casanova J-L, Kobayashi M. Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity. Clin Transl Immunology. 2016;5(12):e114 Comprehensive review of the defects of IL-17 immunity underlying CMC. PubMedPubMedCentral •• Okada S, Puel A, Casanova J-L, Kobayashi M. Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity. Clin Transl Immunology. 2016;5(12):e114 Comprehensive review of the defects of IL-17 immunity underlying CMC. PubMedPubMedCentral
19.
go back to reference Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, et al. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. 2011;332(6025):65–8.PubMedPubMedCentral Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, et al. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. 2011;332(6025):65–8.PubMedPubMedCentral
20.
go back to reference Boisson B, Wang C, Pedergnana V, Wu L, Cypowyj S, Rybojad M, et al. An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. Immunity. 2013;39(4):676–86.PubMed Boisson B, Wang C, Pedergnana V, Wu L, Cypowyj S, Rybojad M, et al. An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. Immunity. 2013;39(4):676–86.PubMed
21.
go back to reference Ling Y, Cypowyj S, Aytekin C, Galicchio M, Camcioglu Y, Nepesov S, et al. Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. J Exp Med. 2015;212(5):619–31.PubMedPubMedCentral Ling Y, Cypowyj S, Aytekin C, Galicchio M, Camcioglu Y, Nepesov S, et al. Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. J Exp Med. 2015;212(5):619–31.PubMedPubMedCentral
22.
go back to reference Bader O, Weig MS, Gross U, Schön MP, Mempel M, Buhl T. A 32-year-old man with ulcerative mucositis, skin lesions, and nail dystrophy. Clin Infect Dis. 2012;54(7):1035–6. Bader O, Weig MS, Gross U, Schön MP, Mempel M, Buhl T. A 32-year-old man with ulcerative mucositis, skin lesions, and nail dystrophy. Clin Infect Dis. 2012;54(7):1035–6.
23.
go back to reference •• Lévy R, Okada S, Béziat V, Moriya K, Liu C, Chai LYA, et al. Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency. Proc Natl Acad Sci. 2016;113(51):E8277–85 Summary of the phenotype of patients with IL-17RA deficiency. PubMed •• Lévy R, Okada S, Béziat V, Moriya K, Liu C, Chai LYA, et al. Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency. Proc Natl Acad Sci. 2016;113(51):E8277–85 Summary of the phenotype of patients with IL-17RA deficiency. PubMed
24.
go back to reference Fellmann F, Angelini F, Wassenberg J, Perreau M, Ramirez NA, Simon G, et al. IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation. J Allergy Clin Immunol. 2016;137(4):1189–1196.e2.PubMed Fellmann F, Angelini F, Wassenberg J, Perreau M, Ramirez NA, Simon G, et al. IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation. J Allergy Clin Immunol. 2016;137(4):1189–1196.e2.PubMed
25.
go back to reference Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007;357(16):1608–19.PubMed Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007;357(16):1608–19.PubMed
27.
go back to reference Hambleton S, Salem S, Bustamante J, Bigley V, Boisson-Dupuis S, Azevedo J, et al. IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med. 2011;365(2):127–38.PubMedPubMedCentral Hambleton S, Salem S, Bustamante J, Bigley V, Boisson-Dupuis S, Azevedo J, et al. IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med. 2011;365(2):127–38.PubMedPubMedCentral
28.
go back to reference Glocker E-O, Hennigs A, Nabavi M, Schäffer AA, Woellner C, Salzer U, et al. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med. 2009;361(18):1727–35.PubMedPubMedCentral Glocker E-O, Hennigs A, Nabavi M, Schäffer AA, Woellner C, Salzer U, et al. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med. 2009;361(18):1727–35.PubMedPubMedCentral
29.
go back to reference Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, et al. Impairment of immunity to candida and mycobacterium in humans with bi-allelic RORC mutations. Science. 2015;349(6248):606–13.PubMedPubMedCentral Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, et al. Impairment of immunity to candida and mycobacterium in humans with bi-allelic RORC mutations. Science. 2015;349(6248):606–13.PubMedPubMedCentral
30.
go back to reference •• Liu L, Okada S, Kong X-F, Kreins AY, Cypowyj S, Abhyankar A, et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med. 2011;208(8):1635–48 Characterization of the molecular defect of IL-17 immunity in STAT1 GOF mutations. PubMedPubMedCentral •• Liu L, Okada S, Kong X-F, Kreins AY, Cypowyj S, Abhyankar A, et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med. 2011;208(8):1635–48 Characterization of the molecular defect of IL-17 immunity in STAT1 GOF mutations. PubMedPubMedCentral
31.
go back to reference van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LAB, Gilissen C, et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med. 2011;365(1):54–61.PubMed van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LAB, Gilissen C, et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med. 2011;365(1):54–61.PubMed
32.
go back to reference Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, et al. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med. 2010;207(2):291–7.PubMedPubMedCentral Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, et al. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med. 2010;207(2):291–7.PubMedPubMedCentral
33.
go back to reference •• Toubiana J, Okada S, Hiller J, Oleastro M, Gomez ML, Becerra JCA, et al. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood. 2016;127(25):3154–64 Review of the clinical presentation of patients with STAT1 GOF. PubMedPubMedCentral •• Toubiana J, Okada S, Hiller J, Oleastro M, Gomez ML, Becerra JCA, et al. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood. 2016;127(25):3154–64 Review of the clinical presentation of patients with STAT1 GOF. PubMedPubMedCentral
34.
go back to reference Chandesris M-O, Melki I, Natividad A, Puel A, Fieschi C, Yun L, et al. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore). 2012;91(4):e1–e19.PubMedCentral Chandesris M-O, Melki I, Natividad A, Puel A, Fieschi C, Yun L, et al. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore). 2012;91(4):e1–e19.PubMedCentral
35.
go back to reference de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, et al. Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore). 2010;89(6):381–402. de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, et al. Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore). 2010;89(6):381–402.
36.
go back to reference Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, et al. Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 Kindreds. Medicine (Baltimore). 2013;92(2):109–22. Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, et al. Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 Kindreds. Medicine (Baltimore). 2013;92(2):109–22.
37.
go back to reference Ouederni M, Sanal O, Ikincioğullari A, Tezcan I, Dogu F, Sologuren I, et al. Clinical features of candidiasis in patients with inherited interleukin 12 receptor β1 deficiency. Clin Infect Dis. 2014;58(2):204–13.PubMed Ouederni M, Sanal O, Ikincioğullari A, Tezcan I, Dogu F, Sologuren I, et al. Clinical features of candidiasis in patients with inherited interleukin 12 receptor β1 deficiency. Clin Infect Dis. 2014;58(2):204–13.PubMed
38.
go back to reference Lanternier F, Mahdaviani SA, Barbati E, Chaussade H, Koumar Y, Levy R, 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):1558–1568.e2.PubMedPubMedCentral Lanternier F, Mahdaviani SA, Barbati E, Chaussade H, Koumar Y, Levy R, 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):1558–1568.e2.PubMedPubMedCentral
39.
go back to reference Grumach AS, de Queiroz-Telles F, Migaud M, Lanternier F, Filho NR, Palma SMU, et al. A homozygous CARD9 mutation in a Brazilian patient with deep dermatophytosis. J Clin Immunol. 2015;35(5):486–90.PubMed Grumach AS, de Queiroz-Telles F, Migaud M, Lanternier F, Filho NR, Palma SMU, et al. A homozygous CARD9 mutation in a Brazilian patient with deep dermatophytosis. J Clin Immunol. 2015;35(5):486–90.PubMed
41.
go back to reference •• Lanternier F, Pathan S, Vincent QB, Liu L, Cypowyj S, Prando C, et al. Deep dermatophytosis and inherited CARD9 deficiency. N Engl J Med. 2013;369(18):1704–14 Landmark paper on CARD9 deficiency. •• Lanternier F, Pathan S, Vincent QB, Liu L, Cypowyj S, Prando C, et al. Deep dermatophytosis and inherited CARD9 deficiency. N Engl J Med. 2013;369(18):1704–14 Landmark paper on CARD9 deficiency.
42.
go back to reference Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet J Rare Dis. 2011;6:26.PubMedPubMedCentral Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet J Rare Dis. 2011;6:26.PubMedPubMedCentral
43.
go back to reference Hanna S, Etzioni A. Leukocyte adhesion deficiencies. Ann N Y Acad Sci. 2012;1250(1):50–5.PubMed Hanna S, Etzioni A. Leukocyte adhesion deficiencies. Ann N Y Acad Sci. 2012;1250(1):50–5.PubMed
44.
go back to reference Winkelstein JA, Marino MC, Johnston RB, Boyle J, Curnutte J, Gallin JI, et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore). 2000;79(3):155–69. Winkelstein JA, Marino MC, Johnston RB, Boyle J, Curnutte J, Gallin JI, et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore). 2000;79(3):155–69.
45.
go back to reference van den Berg JM, van Koppen E, Åhlin A, Belohradsky BH, Bernatowska E, Corbeel L, et al. Chronic granulomatous disease: the European experience. PLoS One. 2009;4(4):e5234.PubMedPubMedCentral van den Berg JM, van Koppen E, Åhlin A, Belohradsky BH, Bernatowska E, Corbeel L, et al. Chronic granulomatous disease: the European experience. PLoS One. 2009;4(4):e5234.PubMedPubMedCentral
46.
go back to reference Beauté J, Obenga G, Le Mignot L, Mahlaoui N, Bougnoux M-E, Mouy R, et al. Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France. Pediatr Infect Dis J. 2011;30(1):57–62.PubMed Beauté J, Obenga G, Le Mignot L, Mahlaoui N, Bougnoux M-E, Mouy R, et al. Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France. Pediatr Infect Dis J. 2011;30(1):57–62.PubMed
47.
go back to reference Drewniak A, Gazendam RP, Tool ATJ, van Houdt M, Jansen MH, van Hamme JL, et al. Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency. Blood. 2013;121(13):2385–92.PubMed Drewniak A, Gazendam RP, Tool ATJ, van Houdt M, Jansen MH, van Hamme JL, et al. Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency. Blood. 2013;121(13):2385–92.PubMed
48.
go back to reference Herbst M, Gazendam R, Reimnitz D, Sawalle-Belohradsky J, Groll A, Schlegel P-G, 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.PubMed Herbst M, Gazendam R, Reimnitz D, Sawalle-Belohradsky J, Groll A, Schlegel P-G, 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.PubMed
49.
go back to reference • Kosmidis C, Denning DW. The clinical spectrum of pulmonary aspergillosis. Thorax. 2015;70(3):270–7 Comprehensive review of the clinical presentations of pulmonary aspergillosis. PubMed • Kosmidis C, Denning DW. The clinical spectrum of pulmonary aspergillosis. Thorax. 2015;70(3):270–7 Comprehensive review of the clinical presentations of pulmonary aspergillosis. PubMed
50.
go back to reference Vinh DC, Sugui JA, Hsu AP, Freeman AF, Holland SM. Invasive fungal disease in autosomal-dominant hyper-IgE syndrome. J Allergy Clin Immunol. 2010;125(6):1389–90.PubMedPubMedCentral Vinh DC, Sugui JA, Hsu AP, Freeman AF, Holland SM. Invasive fungal disease in autosomal-dominant hyper-IgE syndrome. J Allergy Clin Immunol. 2010;125(6):1389–90.PubMedPubMedCentral
52.
go back to reference Segal BH, DeCarlo ES, Kwon-Chung KJ, Malech HL, Gallin JI, Holland SM. Aspergillus nidulans infection in chronic granulomatous disease. Medicine (Baltimore). 1998;77(5):345–54. Segal BH, DeCarlo ES, Kwon-Chung KJ, Malech HL, Gallin JI, Holland SM. Aspergillus nidulans infection in chronic granulomatous disease. Medicine (Baltimore). 1998;77(5):345–54.
53.
go back to reference Siddiqui S, Anderson VL, Hilligoss DM, Abinun M, Kuijpers TW, Masur H, et al. Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease. Clin Infect Dis. 2007;45(6):673–81.PubMed Siddiqui S, Anderson VL, Hilligoss DM, Abinun M, Kuijpers TW, Masur H, et al. Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease. Clin Infect Dis. 2007;45(6):673–81.PubMed
54.
go back to reference Rieber N, Gazendam RP, Freeman AF, Hsu AP, Collar AL, Sugui JA, et al. Extrapulmonary aspergillus infection in patients with CARD9 deficiency. JCI Insight. 2016;1(17):e89890.PubMedPubMedCentral Rieber N, Gazendam RP, Freeman AF, Hsu AP, Collar AL, Sugui JA, et al. Extrapulmonary aspergillus infection in patients with CARD9 deficiency. JCI Insight. 2016;1(17):e89890.PubMedPubMedCentral
55.
go back to reference Cheikhrouhou F, Makni F, Ayadi A. La maladie dermatophytique: revue de la littérature. J Mycol Médicale. 2010;20(1):61–9. Cheikhrouhou F, Makni F, Ayadi A. La maladie dermatophytique: revue de la littérature. J Mycol Médicale. 2010;20(1):61–9.
56.
go back to reference Jachiet M, Lanternier F, Rybojad M, Bagot M, Ibrahim L, Casanova J-L, et al. Posaconazole treatment of extensive skin and nail dermatophytosis due to autosomal recessive deficiency of CARD9. JAMA Dermatol. 2015;151(2):192–4.PubMed Jachiet M, Lanternier F, Rybojad M, Bagot M, Ibrahim L, Casanova J-L, et al. Posaconazole treatment of extensive skin and nail dermatophytosis due to autosomal recessive deficiency of CARD9. JAMA Dermatol. 2015;151(2):192–4.PubMed
57.
go back to reference Boudghene Stambouli O, Amrani N, Boudghéne Stambouli K, Bouali F. Dermatophytic disease with deficit in CARD9: a new case with a brain impairment. J Mycol Médicale. 2017;27(2):250–3. Boudghene Stambouli O, Amrani N, Boudghéne Stambouli K, Bouali F. Dermatophytic disease with deficit in CARD9: a new case with a brain impairment. J Mycol Médicale. 2017;27(2):250–3.
58.
go back to reference Yan XX, Yu CP, Fu XA, Bao FF, Du DH, Wang C, et al. CARD9 mutation linked to Corynespora cassiicola infection in a Chinese patient. Br J Dermatol. 2015;174(1):176–9.PubMed Yan XX, Yu CP, Fu XA, Bao FF, Du DH, Wang C, et al. CARD9 mutation linked to Corynespora cassiicola infection in a Chinese patient. Br J Dermatol. 2015;174(1):176–9.PubMed
59.
go back to reference Wang X, Wang W, Lin Z, Wang X, Li T, Yu J, et al. CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies. J Allergy Clin Immunol. 2014;133(3):905–908.e3.PubMed Wang X, Wang W, Lin Z, Wang X, Li T, Yu J, et al. CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies. J Allergy Clin Immunol. 2014;133(3):905–908.e3.PubMed
60.
go back to reference Lanternier F, Barbati E, Meinzer U, Liu L, Pedergnana V, Migaud M, et al. Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection. J Infect Dis. 2015;211(8):1241–50.PubMed Lanternier F, Barbati E, Meinzer U, Liu L, Pedergnana V, Migaud M, et al. Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection. J Infect Dis. 2015;211(8):1241–50.PubMed
61.
go back to reference Wang X, Zhang R, Wu W, Song Y, Wan Z, Han W, et al. Impaired specific antifungal immunity in CARD9-deficient patients with phaeohyphomycosis. J Investig Dermatol. 2018;138(3):607–17.PubMed Wang X, Zhang R, Wu W, Song Y, Wan Z, Han W, et al. Impaired specific antifungal immunity in CARD9-deficient patients with phaeohyphomycosis. J Investig Dermatol. 2018;138(3):607–17.PubMed
62.
go back to reference Leven EA, Maffucci P, Ochs HD, Scholl PR, Buckley RH, Fuleihan RL, et al. Hyper IgM syndrome: a report from the USIDNET registry. J Clin Immunol. 2016;36(5):490–501.PubMedPubMedCentral Leven EA, Maffucci P, Ochs HD, Scholl PR, Buckley RH, Fuleihan RL, et al. Hyper IgM syndrome: a report from the USIDNET registry. J Clin Immunol. 2016;36(5):490–501.PubMedPubMedCentral
63.
go back to reference Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore). 2003;82(6):373–84. Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore). 2003;82(6):373–84.
64.
go back to reference Su HC, Jing H, Zhang Q. DOCK8 deficiency. Ann N Y Acad Sci. 2012;1246(1):26–33. Su HC, Jing H, Zhang Q. DOCK8 deficiency. Ann N Y Acad Sci. 2012;1246(1):26–33.
65.
go back to reference Hanna S, Etzioni A. MHC class I and II deficiencies. J Allergy Clin Immunol. 2014;134(2):269–75.PubMed Hanna S, Etzioni A. MHC class I and II deficiencies. J Allergy Clin Immunol. 2014;134(2):269–75.PubMed
66.
go back to reference Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr. 1994;125(6, Part 1):876–85.PubMed Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr. 1994;125(6, Part 1):876–85.PubMed
67.
go back to reference Dokal I. Dyskeratosis congenita. In: Sullivan KE, Stiehm ER, editors. Stiehm’s immune deficiencies. Cambridge: Academic; 2014. Dokal I. Dyskeratosis congenita. In: Sullivan KE, Stiehm ER, editors. Stiehm’s immune deficiencies. Cambridge: Academic; 2014.
68.
go back to reference Ming EJ, Graham JMJ. Genetic syndromes with evidence of immune deficiency. In: Sullivan KE, Stiehm ER, editors. Stiehm’s immune deficiencies. Cambridge: Academic; 2014. Ming EJ, Graham JMJ. Genetic syndromes with evidence of immune deficiency. In: Sullivan KE, Stiehm ER, editors. Stiehm’s immune deficiencies. Cambridge: Academic; 2014.
69.
go back to reference Ziegler JB, Kashef S. Well-known combined immune deficiency syndromes. In: Sullivan KE, Stiehm ER, editors. Stiehm’s immune deficiencies. Cambridge: Academic; 2014. Ziegler JB, Kashef S. Well-known combined immune deficiency syndromes. In: Sullivan KE, Stiehm ER, editors. Stiehm’s immune deficiencies. Cambridge: Academic; 2014.
70.
go back to reference Su HC, Lenardo MJ. Combined immune deficiencies. In: Sullivan KE, Stiehm ER, editors. Stiehm’s immune deficiencies. Cambridge: Academic; 2014. Su HC, Lenardo MJ. Combined immune deficiencies. In: Sullivan KE, Stiehm ER, editors. Stiehm’s immune deficiencies. Cambridge: Academic; 2014.
71.
go back to reference Sirianni MC, Atzori C, De Santis W, Milito C, Esposito A, Marziali M, et al. A case of Pneumocystis jiroveci pneumonia in X-linked agammaglobulinaemia treated with immunosuppressive therapy: a lesson for immunologists. Int Arch Allergy Immunol. 2006;140(1):82–8.PubMed Sirianni MC, Atzori C, De Santis W, Milito C, Esposito A, Marziali M, et al. A case of Pneumocystis jiroveci pneumonia in X-linked agammaglobulinaemia treated with immunosuppressive therapy: a lesson for immunologists. Int Arch Allergy Immunol. 2006;140(1):82–8.PubMed
72.
go back to reference Walzer PD, Schultz MG, Western KA, Robbins JB. Pneumocystis carinii pneumonia and primary immune deficiency diseases of infancy and childhood. J Pediatr. 1973;82(3):416–22.PubMed Walzer PD, Schultz MG, Western KA, Robbins JB. Pneumocystis carinii pneumonia and primary immune deficiency diseases of infancy and childhood. J Pediatr. 1973;82(3):416–22.PubMed
73.
go back to reference Lee PP, Lau Y-L. Cellular and molecular defects underlying invasive fungal infections—revelations from endemic mycoses. Front Immunol. 2017;8:735.PubMedPubMedCentral Lee PP, Lau Y-L. Cellular and molecular defects underlying invasive fungal infections—revelations from endemic mycoses. Front Immunol. 2017;8:735.PubMedPubMedCentral
74.
go back to reference Odio CD, Marciano BE, Galgiani JN, Holland SM. Risk Factors for disseminated coccidioidomycosis, United States. Emerg Infect Dis. 2017;23(2). Odio CD, Marciano BE, Galgiani JN, Holland SM. Risk Factors for disseminated coccidioidomycosis, United States. Emerg Infect Dis. 2017;23(2).
75.
go back to reference Vinh DC, Masannat F, Dzioba RB, Galgiani JN, Holland SM. Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-γ receptor 1 deficiency. Clin Infect Dis. 2009;49(6):e62–5.PubMedPubMedCentral Vinh DC, Masannat F, Dzioba RB, Galgiani JN, Holland SM. Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-γ receptor 1 deficiency. Clin Infect Dis. 2009;49(6):e62–5.PubMedPubMedCentral
76.
go back to reference Vinh DC, Schwartz B, Hsu AP, Miranda DJ, Valdez PA, Fink D, et al. Interleukin-12 receptor β1 deficiency predisposing to disseminated coccidioidomycosis. Clin Infect Dis. 2011;52(4):e99–102.PubMedPubMedCentral Vinh DC, Schwartz B, Hsu AP, Miranda DJ, Valdez PA, Fink D, et al. Interleukin-12 receptor β1 deficiency predisposing to disseminated coccidioidomycosis. Clin Infect Dis. 2011;52(4):e99–102.PubMedPubMedCentral
77.
go back to reference Zerbe CS, Holland SM. Disseminated histoplasmosis in persons with interferon-γ receptor 1 deficiency. Clin Infect Dis. 2005;41(4):38–41. Zerbe CS, Holland SM. Disseminated histoplasmosis in persons with interferon-γ receptor 1 deficiency. Clin Infect Dis. 2005;41(4):38–41.
78.
go back to reference Odio CD, Lee Milligan K, McGowan K, Rudman Spergel AK, Bishop R, Boris L, et al. Endemic mycoses in patients with STAT3-mutated hyper-IgE (Job) syndrome. J Allergy Clin Immunol. 2015;136(5):1411–1413.e2.PubMedPubMedCentral Odio CD, Lee Milligan K, McGowan K, Rudman Spergel AK, Bishop R, Boris L, et al. Endemic mycoses in patients with STAT3-mutated hyper-IgE (Job) syndrome. J Allergy Clin Immunol. 2015;136(5):1411–1413.e2.PubMedPubMedCentral
79.
go back to reference Powers AE, Bender JM, Kumánovics A, Ampofo K, Augustine N, Pavia AT, et al. Coccidioides immitis meningitis in a patient with hyperimmunoglobulin E syndrome due to a novel mutation in signal transducer and activator of transcription. Pediatr Infect Dis J. 2009;28(7):664–6.PubMed Powers AE, Bender JM, Kumánovics A, Ampofo K, Augustine N, Pavia AT, et al. Coccidioides immitis meningitis in a patient with hyperimmunoglobulin E syndrome due to a novel mutation in signal transducer and activator of transcription. Pediatr Infect Dis J. 2009;28(7):664–6.PubMed
80.
go back to reference Sampaio EP, Hsu AP, Pechacek J, Bax HI, Dias DL, Paulson ML, et al. Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. J Allergy Clin Immunol. 2013;131(6):1624–1634.e17.PubMedPubMedCentral Sampaio EP, Hsu AP, Pechacek J, Bax HI, Dias DL, Paulson ML, et al. Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. J Allergy Clin Immunol. 2013;131(6):1624–1634.e17.PubMedPubMedCentral
81.
go back to reference Spinner MA, Ker JP, Stoudenmire CJ, Fadare O, Mace EM, Orange JS, et al. GATA2 deficiency underlying severe blastomycosis and fatal herpes simplex virus–associated hemophagocytic lymphohistiocytosis. J Allergy Clin Immunol. 2016;137(2):638–40.PubMed Spinner MA, Ker JP, Stoudenmire CJ, Fadare O, Mace EM, Orange JS, et al. GATA2 deficiency underlying severe blastomycosis and fatal herpes simplex virus–associated hemophagocytic lymphohistiocytosis. J Allergy Clin Immunol. 2016;137(2):638–40.PubMed
82.
go back to reference Tu RK, Peters ME, Gourley GR, Hong R. Esophageal histoplasmosis in a child with immunodeficiency with hyper-IgM. Am J Roentgenol. 1991;157(2):381–2. Tu RK, Peters ME, Gourley GR, Hong R. Esophageal histoplasmosis in a child with immunodeficiency with hyper-IgM. Am J Roentgenol. 1991;157(2):381–2.
83.
go back to reference Hostoffer RW, Berger M, Clark HT, Schreiber JR. Disseminated histoplasma capsulatum in a patient with hyper IgM immunodeficiency. Pediatrics. 1994;94(2):234–6.PubMed Hostoffer RW, Berger M, Clark HT, Schreiber JR. Disseminated histoplasma capsulatum in a patient with hyper IgM immunodeficiency. Pediatrics. 1994;94(2):234–6.PubMed
84.
go back to reference Yilmaz GG, Yilmaz E, Coşkun M, Karpuzoǧlu G, Gelen T, Yeǧin O. Cutaneous histoplasmosis in a child with hyper-IgM. Pediatr Dermatol. 1995;12(3):235–8.PubMed Yilmaz GG, Yilmaz E, Coşkun M, Karpuzoǧlu G, Gelen T, Yeǧin O. Cutaneous histoplasmosis in a child with hyper-IgM. Pediatr Dermatol. 1995;12(3):235–8.PubMed
85.
go back to reference • Lovell JP, Foruraghi L, Freeman AF, Uzel G, Zerbe CS, Su H, et al. Persistent nodal histoplasmosis in NF-κB essential modulator (NEMO) deficiency: report of a case and review of infection in primary immunodeficiencies. J Allergy Clin Immunol. 2016;138(3):903–5 Review of all published cases of histoplasmosis in patients with PIDs. PubMedPubMedCentral • Lovell JP, Foruraghi L, Freeman AF, Uzel G, Zerbe CS, Su H, et al. Persistent nodal histoplasmosis in NF-κB essential modulator (NEMO) deficiency: report of a case and review of infection in primary immunodeficiencies. J Allergy Clin Immunol. 2016;138(3):903–5 Review of all published cases of histoplasmosis in patients with PIDs. PubMedPubMedCentral
86.
go back to reference Duncan RA, von Reyn CF, Alliegro GM, Toossi Z, Sugar AM, Levitz SM. Idiopathic CD4+ T-lymphocytopenia--four patients with opportunistic infections and no evidence of HIV infection. N Engl J Med. 1993;328(6):393–8.PubMed Duncan RA, von Reyn CF, Alliegro GM, Toossi Z, Sugar AM, Levitz SM. Idiopathic CD4+ T-lymphocytopenia--four patients with opportunistic infections and no evidence of HIV infection. N Engl J Med. 1993;328(6):393–8.PubMed
87.
go back to reference Spira TJ, Jones BM, Nicholson JK, Lal RB, Rowe T, Mawle AC, et al. Idiopathic CD4+ T-lymphocytopenia--an analysis of five patients with unexplained opportunistic infections. N Engl J Med. 1993;328(6):386–92.PubMed Spira TJ, Jones BM, Nicholson JK, Lal RB, Rowe T, Mawle AC, et al. Idiopathic CD4+ T-lymphocytopenia--an analysis of five patients with unexplained opportunistic infections. N Engl J Med. 1993;328(6):386–92.PubMed
88.
go back to reference Relia N, Kavimandan A, Sinha S, Sharma SK. Disseminated histoplasmosis as the first presentation of idiopathic CD4+ T-lymphocytopenia. J Postgrad Med. 2010;56(1):39–40.PubMed Relia N, Kavimandan A, Sinha S, Sharma SK. Disseminated histoplasmosis as the first presentation of idiopathic CD4+ T-lymphocytopenia. J Postgrad Med. 2010;56(1):39–40.PubMed
89.
90.
go back to reference Mellouli F, Ksouri H, Barbouche R, Maamer M, Hamed LB, Hmida S, et al. Successful treatment of fusarium solani ecthyma gangrenosum in a patient affected by leukocyte adhesion deficiency type 1 with granulocytes transfusions. BMC Dermatol. 2010;10:10.PubMedPubMedCentral Mellouli F, Ksouri H, Barbouche R, Maamer M, Hamed LB, Hmida S, et al. Successful treatment of fusarium solani ecthyma gangrenosum in a patient affected by leukocyte adhesion deficiency type 1 with granulocytes transfusions. BMC Dermatol. 2010;10:10.PubMedPubMedCentral
91.
go back to reference Moroti RV, Gheorghita V, Al-Hatmi AMS, de Hoog GS, Meis JF, Netea MG. Fusarium ramigenum, a novel human opportunist in a patient with common variable immunodeficiency and cellular immune defects: case report. BMC Infect Dis. 2016;16:79.PubMedPubMedCentral Moroti RV, Gheorghita V, Al-Hatmi AMS, de Hoog GS, Meis JF, Netea MG. Fusarium ramigenum, a novel human opportunist in a patient with common variable immunodeficiency and cellular immune defects: case report. BMC Infect Dis. 2016;16:79.PubMedPubMedCentral
92.
go back to reference Wang X, Lin Z, Gao L, Wang A, Wan Z, Chen W, et al. Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis. J Allergy Clin Immunol. 2013;131(4):1242–3.PubMed Wang X, Lin Z, Gao L, Wang A, Wan Z, Chen W, et al. Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis. J Allergy Clin Immunol. 2013;131(4):1242–3.PubMed
93.
go back to reference Okura Y, Kawamura N, Okano M, Toita N, Takezaki S, Yamada M, et al. Fusarium falciforme infection in a patient with chronic granulomatous disease: unique long-term course of epidural abscess. Pediatr Int. 2015;57(1):e4–6.PubMed Okura Y, Kawamura N, Okano M, Toita N, Takezaki S, Yamada M, et al. Fusarium falciforme infection in a patient with chronic granulomatous disease: unique long-term course of epidural abscess. Pediatr Int. 2015;57(1):e4–6.PubMed
94.
go back to reference Rajasingham R, Smith RM, Park BJ, Jarvis JN, Govender NP, Chiller TM, et al. Global burden of disease of HIV-associated cryptococcal meningitis: an updated analysis. Lancet Infect Dis. 2017;17(8):873–81.PubMedPubMedCentral Rajasingham R, Smith RM, Park BJ, Jarvis JN, Govender NP, Chiller TM, et al. Global burden of disease of HIV-associated cryptococcal meningitis: an updated analysis. Lancet Infect Dis. 2017;17(8):873–81.PubMedPubMedCentral
95.
go back to reference Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr. 1997;131(1 Pt 1):47–54.PubMed Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr. 1997;131(1 Pt 1):47–54.PubMed
96.
go back to reference Malheiro L, Lazzara D, Xerinda S, Pinheiro MD, Sarmento A. Cryptococcal meningoencephalitis in a patient with hyper immunoglobulin M (IgM) syndrome: a case report. BMC Res Notes. 2014;7:566.PubMedPubMedCentral Malheiro L, Lazzara D, Xerinda S, Pinheiro MD, Sarmento A. Cryptococcal meningoencephalitis in a patient with hyper immunoglobulin M (IgM) syndrome: a case report. BMC Res Notes. 2014;7:566.PubMedPubMedCentral
97.
go back to reference Mitsui-Sekinaka K, Imai K, Sato H, Tomizawa D, Kajiwara M, Nagasawa M, et al. Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan. J Allergy Clin Immunol. 2015;136(4):1018–24.PubMed Mitsui-Sekinaka K, Imai K, Sato H, Tomizawa D, Kajiwara M, Nagasawa M, et al. Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan. J Allergy Clin Immunol. 2015;136(4):1018–24.PubMed
98.
go back to reference França TT, Leite LFB, Maximo TA, Lambert CG, Zurro NB, Forte WCN, et al. A novel de novo mutation in the CD40 ligand gene in a patient with a mild X-linked hyper-IgM phenotype initially diagnosed as CVID: new aspects of old diseases. Front Pediatr. 2018;6:130.PubMedPubMedCentral França TT, Leite LFB, Maximo TA, Lambert CG, Zurro NB, Forte WCN, et al. A novel de novo mutation in the CD40 ligand gene in a patient with a mild X-linked hyper-IgM phenotype initially diagnosed as CVID: new aspects of old diseases. Front Pediatr. 2018;6:130.PubMedPubMedCentral
99.
go back to reference Lee M-Y, Chung J-H, Shin J-H, Hwang T-J, Kim K-S, Lee J-H, et al. Lymphonodular cryptococcosis diagnosed by fine needle aspiration cytology in hyper-IgM syndrome. Acta Cytol. 2001;45(2):241–4.PubMed Lee M-Y, Chung J-H, Shin J-H, Hwang T-J, Kim K-S, Lee J-H, et al. Lymphonodular cryptococcosis diagnosed by fine needle aspiration cytology in hyper-IgM syndrome. Acta Cytol. 2001;45(2):241–4.PubMed
100.
go back to reference Jo EK, Kim HS, Lee MY, Iseki M, Lee JH, Song CH, et al. X-linked hyper-IgM syndrome associated with Cryptosporidium parvum and Cryptococcus neoformans infections: the first case with molecular diagnosis in Korea. J Korean Med Sci. 2002;17(1):116–20.PubMedPubMedCentral Jo EK, Kim HS, Lee MY, Iseki M, Lee JH, Song CH, et al. X-linked hyper-IgM syndrome associated with Cryptosporidium parvum and Cryptococcus neoformans infections: the first case with molecular diagnosis in Korea. J Korean Med Sci. 2002;17(1):116–20.PubMedPubMedCentral
101.
go back to reference Zonios DI, Falloon J, Huang C-Y, Chaitt D, Bennett JE. Cryptococcosis and idiopathic CD4 lymphocytopenia. Medicine (Baltimore). 2007;86(2):78–92. Zonios DI, Falloon J, Huang C-Y, Chaitt D, Bennett JE. Cryptococcosis and idiopathic CD4 lymphocytopenia. Medicine (Baltimore). 2007;86(2):78–92.
102.
go back to reference Vinh DC, Patel SY, Uzel G, Anderson VL, Freeman AF, Olivier KN, et al. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood. 2010;115(8):1519–29.PubMedPubMedCentral Vinh DC, Patel SY, Uzel G, Anderson VL, Freeman AF, Olivier KN, et al. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood. 2010;115(8):1519–29.PubMedPubMedCentral
103.
go back to reference Panackal AA, Rosen LB, Uzel G, Davis MJ, Hu G, Adeyemo A, et al. Susceptibility to cryptococcal meningoencephalitis associated with idiopathic CD4+ lymphopenia and secondary germline or acquired defects. Open Forum Infect Dis. 2017;4(2):oxf082. Panackal AA, Rosen LB, Uzel G, Davis MJ, Hu G, Adeyemo A, et al. Susceptibility to cryptococcal meningoencephalitis associated with idiopathic CD4+ lymphopenia and secondary germline or acquired defects. Open Forum Infect Dis. 2017;4(2):oxf082.
104.
go back to reference Rosen LB, Freeman AF, Yang LM, Jutivorakool K, Olivier KN, Angkasekwinai N, et al. Anti–GM-CSF autoantibodies in patients with cryptococcal meningitis. J Immunol. 2013;190(8):3959–66.PubMedPubMedCentral Rosen LB, Freeman AF, Yang LM, Jutivorakool K, Olivier KN, Angkasekwinai N, et al. Anti–GM-CSF autoantibodies in patients with cryptococcal meningitis. J Immunol. 2013;190(8):3959–66.PubMedPubMedCentral
105.
go back to reference Kuo C-Y, Wang S-Y, Shih H-P, Tu K-H, Huang W-C, Ding J-Y, et al. Disseminated cryptococcosis due to anti-granulocyte-macrophage colony-stimulating factor autoantibodies in the absence of pulmonary alveolar proteinosis. J Clin Immunol. 2017;37(2):143–52.PubMed Kuo C-Y, Wang S-Y, Shih H-P, Tu K-H, Huang W-C, Ding J-Y, et al. Disseminated cryptococcosis due to anti-granulocyte-macrophage colony-stimulating factor autoantibodies in the absence of pulmonary alveolar proteinosis. J Clin Immunol. 2017;37(2):143–52.PubMed
106.
go back to reference Browne SK, Burbelo PD, Chetchotisakd P, Suputtamongkol Y, Kiertiburanakul S, Shaw PA, et al. Adult-onset immunodeficiency in Thailand and Taiwan. N Engl J Med. 2012;367(8):725–34.PubMedPubMedCentral Browne SK, Burbelo PD, Chetchotisakd P, Suputtamongkol Y, Kiertiburanakul S, Shaw PA, et al. Adult-onset immunodeficiency in Thailand and Taiwan. N Engl J Med. 2012;367(8):725–34.PubMedPubMedCentral
107.
go back to reference Mourad A, Perfect JR. Present and future therapy of cryptococcus infections. J Fungi. 2018;4(3):79. Mourad A, Perfect JR. Present and future therapy of cryptococcus infections. J Fungi. 2018;4(3):79.
Metadata
Title
Patients with Primary Immunodeficiencies: How Are They at Risk for Fungal Disease?
Authors
Giorgia Bucciol
Leen Moens
Isabelle Meyts
Publication date
01-12-2018
Publisher
Springer US
Published in
Current Fungal Infection Reports / Issue 4/2018
Print ISSN: 1936-3761
Electronic ISSN: 1936-377X
DOI
https://doi.org/10.1007/s12281-018-0323-z

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