A 38-year-old woman with necrotising cervical lymphadenitis due to Histoplasma capsulatum

go back to reference Lin C-H, Chi C-Y, Shih H-P, Ding J-Y, Lo C-C, Wang S-Y, Kuo C-Y, Yeh C-F, Tu K-H, Liu S-H, Chen H-K, Ho C-H, Ho M-W, Lee C-H, Lai H-C, Ku C-L. Identification of a major epitope by anti-interferon-γ autoantibodies in patients with mycobacterial disease. Nat Med. 2016;22:994–1001.CrossRefPubMed Lin C-H, Chi C-Y, Shih H-P, Ding J-Y, Lo C-C, Wang S-Y, Kuo C-Y, Yeh C-F, Tu K-H, Liu S-H, Chen H-K, Ho C-H, Ho M-W, Lee C-H, Lai H-C, Ku C-L. Identification of a major epitope by anti-interferon-γ autoantibodies in patients with mycobacterial disease. Nat Med. 2016;22:994–1001.CrossRefPubMed

go back to reference Ku C-L, Lin C-H, Chang S-W, Chu C-C, Chan JFW, Kong X-F, Lee C-H, Rosen EA, Ding J-Y, Lee W-I, Bustamante J, Witte T, Shih H-P, Kuo C-Y, Chetchotisakd P, Kiertiburanakul S, Suputtamongkol Y, Yuen K-Y, Casanova J-L, Holland SM, Doffinger R, Browne SK, Chi C-Y. Anti–IFN-γ autoantibodies are strongly associated with HLA-DR*15:02/16:02 and HLA-DQ*05:01/05:02 across Southeast Asia. J Allergy Clin Immunol. 2016;137:945–8.CrossRefPubMed Ku C-L, Lin C-H, Chang S-W, Chu C-C, Chan JFW, Kong X-F, Lee C-H, Rosen EA, Ding J-Y, Lee W-I, Bustamante J, Witte T, Shih H-P, Kuo C-Y, Chetchotisakd P, Kiertiburanakul S, Suputtamongkol Y, Yuen K-Y, Casanova J-L, Holland SM, Doffinger R, Browne SK, Chi C-Y. Anti–IFN-γ autoantibodies are strongly associated with HLA-DR*15:02/16:02 and HLA-DQ*05:01/05:02 across Southeast Asia. J Allergy Clin Immunol. 2016;137:945–8.CrossRefPubMed

go back to reference Chi CY, Chu CC, Liu JP, Lin CH, Ho MW, Lo WJ, Lin PC, Chen HJ, Chou CH, Feng JY, Fung CP, Sher YP, Li CY, Wang JH, Ku CL. Anti IFN-γ autoantibodies in adults with disseminated nontuberculous mycobacterial infections are associated with HLA-DRB1*16:02 and HLA-DQB1*05:02 and the reactivation of latent varicella-zoster virus infection. Blood. 2013;121:1357–66.CrossRefPubMed Chi CY, Chu CC, Liu JP, Lin CH, Ho MW, Lo WJ, Lin PC, Chen HJ, Chou CH, Feng JY, Fung CP, Sher YP, Li CY, Wang JH, Ku CL. Anti IFN-γ autoantibodies in adults with disseminated nontuberculous mycobacterial infections are associated with HLA-DRB1*16:02 and HLA-DQB1*05:02 and the reactivation of latent varicella-zoster virus infection. Blood. 2013;121:1357–66.CrossRefPubMed

go back to reference O’Connell E, Rosen LB, LaRue RW, Fabre V, Melia MT, Auwaerter PG, Holland SM, Browne SK. The first us domestic report of disseminated mycobacterium avium complex and anti-interferon-γ autoantibodies. J Clin Immunol. 2014;34:1–5. O’Connell E, Rosen LB, LaRue RW, Fabre V, Melia MT, Auwaerter PG, Holland SM, Browne SK. The first us domestic report of disseminated mycobacterium avium complex and anti-interferon-γ autoantibodies. J Clin Immunol. 2014;34:1–5.

go back to reference Browne SK, Burbelo PD, Chetchotisakd P, Suputtamongkol Y, Kiertiburanakul S, Shaw PA, Kirk JL, Jutivorakool K, Zaman R, Ding L, Hsu AP, Patel SY, Olivier KN, Lulitanond V, Mootsikapun P, Anunnatsiri S, Angkasekwinai N, Sathapatayavongs B, Hsueh PR, Shieh CC, Brown MR, Thongnoppakhun W, Claypool R, Sampaio EP, Thepthai C, Waywa D, Dacombe C, Reizes Y, Zelazny AM, Saleeb P, Rosen LB, Mo A, Iadarola M, Holland SM. Adult-onset immunodeficiency in Thailand and Taiwan. N Engl J Med. 2012;367:725–34.CrossRefPubMedPubMedCentral Browne SK, Burbelo PD, Chetchotisakd P, Suputtamongkol Y, Kiertiburanakul S, Shaw PA, Kirk JL, Jutivorakool K, Zaman R, Ding L, Hsu AP, Patel SY, Olivier KN, Lulitanond V, Mootsikapun P, Anunnatsiri S, Angkasekwinai N, Sathapatayavongs B, Hsueh PR, Shieh CC, Brown MR, Thongnoppakhun W, Claypool R, Sampaio EP, Thepthai C, Waywa D, Dacombe C, Reizes Y, Zelazny AM, Saleeb P, Rosen LB, Mo A, Iadarola M, Holland SM. Adult-onset immunodeficiency in Thailand and Taiwan. N Engl J Med. 2012;367:725–34.CrossRefPubMedPubMedCentral

go back to reference Patel SY, Ding L, Brown MR, Lantz L, Gay T, Cohen S, Martyak LA, Kubak B, Holland SM. Anti-IFN-γ autoantibodies in disseminated nontuberculous mycobacterial infections. J Immunol. 2005;175:4769–76.CrossRefPubMed Patel SY, Ding L, Brown MR, Lantz L, Gay T, Cohen S, Martyak LA, Kubak B, Holland SM. Anti-IFN-γ autoantibodies in disseminated nontuberculous mycobacterial infections. J Immunol. 2005;175:4769–76.CrossRefPubMed

go back to reference Meijer JAA, Sjögren EV, Kuijper E, Verbist BM, Visser LG. Necrotizing cervical lymphadenitis due to disseminated Histoplasma capsulatum infection. Eur J Clin Microbiol Infect Dis. 2005;24:574–6.CrossRefPubMed Meijer JAA, Sjögren EV, Kuijper E, Verbist BM, Visser LG. Necrotizing cervical lymphadenitis due to disseminated Histoplasma capsulatum infection. Eur J Clin Microbiol Infect Dis. 2005;24:574–6.CrossRefPubMed

go back to reference Lanternier F, Cypowyj S, Picard C, Bustamante J, Lortholary O, Casanova JL, Puel A. Primary immunodeficiencies underlying fungal infections. Curr Opin Pediatr. 2013;25:736–47.PubMedPubMedCentral Lanternier F, Cypowyj S, Picard C, Bustamante J, Lortholary O, Casanova JL, Puel A. Primary immunodeficiencies underlying fungal infections. Curr Opin Pediatr. 2013;25:736–47.PubMedPubMedCentral

go back to reference Romani L. Immunity to fungal infections. Nat Rev Immunol. 2011;11:275–88.CrossRefPubMed Romani L. Immunity to fungal infections. Nat Rev Immunol. 2011;11:275–88.CrossRefPubMed

go back to reference Jouanguy E, Lamhamedi-Cherradi S, Lammas D, Dorman SE, Fondaneche MC, Dupuis S, Döffinger R, Altare F, Girdlestone J, Emile JF, Ducoulombier H, Edgar D, Clarke J, Oxelius VA, Brai M, Novelli V, Heyne K, Fischer A, Holland SM, Kumararatne DS, Schreiber RD, Casanova JL. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat Genet. 1999;21:370–8.CrossRefPubMed Jouanguy E, Lamhamedi-Cherradi S, Lammas D, Dorman SE, Fondaneche MC, Dupuis S, Döffinger R, Altare F, Girdlestone J, Emile JF, Ducoulombier H, Edgar D, Clarke J, Oxelius VA, Brai M, Novelli V, Heyne K, Fischer A, Holland SM, Kumararatne DS, Schreiber RD, Casanova JL. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat Genet. 1999;21:370–8.CrossRefPubMed

go back to reference de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Janniere L, Rose Y, Desurenaim M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandene L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Bluetters-Sawatzki R, Bernhoft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Muller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PP, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Ozbek N, Aksu G, Keser M, Somer A, Hatipoglu N, Aydogmus C, Asilsoy S, Camcioglu Y, Gulle S, Ozgur TT, Ozen M, Oleastro M, Bernasconi A, Mamishi S, Parvaneh N, Rosenzweig S, Barbouche R, Pedraza S, Lau YL, Ehlayel MS, Fieschi C, Abel L, Sanal O, Casanova JL. Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore). 2010;89:381–402.CrossRefPubMedPubMedCentral de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Janniere L, Rose Y, Desurenaim M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandene L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Bluetters-Sawatzki R, Bernhoft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Muller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PP, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Ozbek N, Aksu G, Keser M, Somer A, Hatipoglu N, Aydogmus C, Asilsoy S, Camcioglu Y, Gulle S, Ozgur TT, Ozen M, Oleastro M, Bernasconi A, Mamishi S, Parvaneh N, Rosenzweig S, Barbouche R, Pedraza S, Lau YL, Ehlayel MS, Fieschi C, Abel L, Sanal O, Casanova JL. Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore). 2010;89:381–402.CrossRefPubMedPubMedCentral

go back to reference Sampaio EP, Hsu AP, Pechacek J, Bax HI, Dias DL, Paulson ML, Chandrasekaran P, Rosen LB, Carvalho DS, Ding L, Vinh DC, Browne SK, Datta S, Milner JD, Kuhns DB, Long Priel DA, Sadat MA, Shiloh M, De Marco B, Alvares M, Gillman JW, Ramarathnam V, de la Morena M, Bezrodnik L, Moreira I, Uzel G, Johnson D, Spalding C, Zerbe CS, Wiley H, Greenberg DE, Hoover SE, Rosenzweig SD, Galgiani JN, Holland SM. Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. J Allergy Clin Immunol. 2013;131:1624–34.CrossRefPubMedPubMedCentral Sampaio EP, Hsu AP, Pechacek J, Bax HI, Dias DL, Paulson ML, Chandrasekaran P, Rosen LB, Carvalho DS, Ding L, Vinh DC, Browne SK, Datta S, Milner JD, Kuhns DB, Long Priel DA, Sadat MA, Shiloh M, De Marco B, Alvares M, Gillman JW, Ramarathnam V, de la Morena M, Bezrodnik L, Moreira I, Uzel G, Johnson D, Spalding C, Zerbe CS, Wiley H, Greenberg DE, Hoover SE, Rosenzweig SD, Galgiani JN, Holland SM. Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. J Allergy Clin Immunol. 2013;131:1624–34.CrossRefPubMedPubMedCentral

go back to reference Zerbe CS, Holland SM. Disseminated histoplasmosis in persons with interferon-γ receptor 1 deficiency. Clin Infect Dis. 2005;41:e38–41.CrossRefPubMed Zerbe CS, Holland SM. Disseminated histoplasmosis in persons with interferon-γ receptor 1 deficiency. Clin Infect Dis. 2005;41:e38–41.CrossRefPubMed

go back to reference de Louvain Souza T, de Souza Campos Fernandes RC, da Azevedo Silva J, Gomes Alves Júnior V, Gomes Coelho A, Souza Faria AC, Moreira Salomão Simão NM, Souto Filho JT, Deswarte C, Boisson-Dupuis S, Torgerson D, Casanova J-L, Bustamante J, Medina-Acosta E. Microbial disease spectrum linked to a novel IL-12Rβ1 N-terminal signal peptide stop-gain homozygous mutation with paradoxical receptor cell-surface expression. Front Microbiol. 2017;8:1–10. de Louvain Souza T, de Souza Campos Fernandes RC, da Azevedo Silva J, Gomes Alves Júnior V, Gomes Coelho A, Souza Faria AC, Moreira Salomão Simão NM, Souto Filho JT, Deswarte C, Boisson-Dupuis S, Torgerson D, Casanova J-L, Bustamante J, Medina-Acosta E. Microbial disease spectrum linked to a novel IL-12Rβ1 N-terminal signal peptide stop-gain homozygous mutation with paradoxical receptor cell-surface expression. Front Microbiol. 2017;8:1–10.

go back to reference van de Vosse E, van Dissel JT, Ottenhoff TH. Genetic deficiencies of innate immune signaling in human infectious disease. Lancet Infect Dis. 2009;9:688–98.CrossRefPubMed van de Vosse E, van Dissel JT, Ottenhoff TH. Genetic deficiencies of innate immune signaling in human infectious disease. Lancet Infect Dis. 2009;9:688–98.CrossRefPubMed

go back to reference Hoflich C, Sabat R, Rosseau S, Temmesfeld B, Slevogt H, Döcke WD, Grutz G, Meisel C, Halle E, Gobel UB, Volk HD, Suttorp N. Naturally occurring anti-IFN-γ autoantibody and severe infections with Mycobacterium cheloneae and Burkholderia cocovenenans. Blood. 2004;103:673–5.CrossRefPubMed Hoflich C, Sabat R, Rosseau S, Temmesfeld B, Slevogt H, Döcke WD, Grutz G, Meisel C, Halle E, Gobel UB, Volk HD, Suttorp N. Naturally occurring anti-IFN-γ autoantibody and severe infections with Mycobacterium cheloneae and Burkholderia cocovenenans. Blood. 2004;103:673–5.CrossRefPubMed

go back to reference Doffinger R, Helbert MR, Barcenas-Morales G, Yang K, Dupuis S, Ceron-Gutierrez L, Espitia-Pinzon C, Barnes N, Bothamley G, Casanova JL, Longhurst HJ, Kumararatne DS. Autoantibodies to interferon-γ in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity. Clin Infect Dis. 2004;38:e10–4.CrossRefPubMed Doffinger R, Helbert MR, Barcenas-Morales G, Yang K, Dupuis S, Ceron-Gutierrez L, Espitia-Pinzon C, Barnes N, Bothamley G, Casanova JL, Longhurst HJ, Kumararatne DS. Autoantibodies to interferon-γ in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity. Clin Infect Dis. 2004;38:e10–4.CrossRefPubMed

go back to reference Wongkulab P, Wipasa J, Chaiwarith R, Supparatpinyo K. Autoantibody to interferon-gamma associated with adult-onset immunodeficiency in non-HIV individuals in Northern Thailand. PLoS One. 2013;8:e76371.CrossRefPubMedPubMedCentral Wongkulab P, Wipasa J, Chaiwarith R, Supparatpinyo K. Autoantibody to interferon-gamma associated with adult-onset immunodeficiency in non-HIV individuals in Northern Thailand. PLoS One. 2013;8:e76371.CrossRefPubMedPubMedCentral

go back to reference Colombo AL, Tobon A, Restrepo A, Queiroz-Telles F, Nucci M. Epidemiology of endemic systemic fungal infections in Latin America. Med Mycol. 2011;49:785–98.PubMed Colombo AL, Tobon A, Restrepo A, Queiroz-Telles F, Nucci M. Epidemiology of endemic systemic fungal infections in Latin America. Med Mycol. 2011;49:785–98.PubMed

go back to reference Kampmann B, Hemingway C, Stephens A, Davidson R, Goodsall A, Anderson S, Nicol M, Scholvinck E, Relman D, Waddell S, Langford P, Sheehan B, Semple L, Wilkinson KA, Wilkinson RJ, Ress S, Hibberd M, Levin M. Acquired predisposition to mycobacterial disease due to autoantibodies to IFN-γ. J Clin Invest. 2005;115:2480–8.CrossRefPubMedPubMedCentral Kampmann B, Hemingway C, Stephens A, Davidson R, Goodsall A, Anderson S, Nicol M, Scholvinck E, Relman D, Waddell S, Langford P, Sheehan B, Semple L, Wilkinson KA, Wilkinson RJ, Ress S, Hibberd M, Levin M. Acquired predisposition to mycobacterial disease due to autoantibodies to IFN-γ. J Clin Invest. 2005;115:2480–8.CrossRefPubMedPubMedCentral