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Published in: Journal of Clinical Immunology 1/2017

01-01-2017 | Letter to Editor

AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity

Authors: Leen Moens, Heidi Schaballie, Barbara Bosch, Arnout Voet, Xavier Bossuyt, Jean-Laurent Casanova, Stephanie Boisson-Dupuis, Stuart G. Tangye, Isabelle Meyts

Published in: Journal of Clinical Immunology | Issue 1/2017

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Excerpt

To the Editor …
Appendix
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Literature
1.
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.CrossRefPubMed 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.CrossRefPubMed
2.
go back to reference Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448(7157):1058–62.CrossRefPubMed Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448(7157):1058–62.CrossRefPubMed
4.
go back to reference Hagl B, Heinz V, Schlesinger A, Spielberger BD, Sawalle-Belohradsky J, Senn-Rauh M, et al. Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children. Pediatr Allergy Immunol. 2016;27(2):177–84.CrossRefPubMed Hagl B, Heinz V, Schlesinger A, Spielberger BD, Sawalle-Belohradsky J, Senn-Rauh M, et al. Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children. Pediatr Allergy Immunol. 2016;27(2):177–84.CrossRefPubMed
5.
go back to reference Schimke LF, Sawalle-Belohradsky J, Roesler J, Wollenberg A, Rack A, Borte M, et al. Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. J Allergy Clin Immunol. 2010;126(3):611–7 e1.CrossRefPubMed Schimke LF, Sawalle-Belohradsky J, Roesler J, Wollenberg A, Rack A, Borte M, et al. Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. J Allergy Clin Immunol. 2010;126(3):611–7 e1.CrossRefPubMed
6.
go back to reference Woellner C, Gertz EM, Schaffer AA, Lagos M, Perro M, Glocker EO, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol. 2010;125(2):424–32 e8.CrossRefPubMedPubMedCentral Woellner C, Gertz EM, Schaffer AA, Lagos M, Perro M, Glocker EO, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol. 2010;125(2):424–32 e8.CrossRefPubMedPubMedCentral
7.
go back to reference Ma CS, Avery DT, Chan A, Batten M, Bustamante J, Boisson-Dupuis S, et al. Functional STAT3 deficiency compromises the generation of human T follicular helper cells. Blood. 2012;119(17):3997–4008.CrossRefPubMedPubMedCentral Ma CS, Avery DT, Chan A, Batten M, Bustamante J, Boisson-Dupuis S, et al. Functional STAT3 deficiency compromises the generation of human T follicular helper cells. Blood. 2012;119(17):3997–4008.CrossRefPubMedPubMedCentral
8.
go back to reference Kane A, Lau A, Brink R, Tangye SG, Deenick EK. B-cell-specific STAT3 deficiency: Insight into the molecular basis of autosomal-dominant hyper-IgE syndrome. J Allergy Clin Immunol. 2016;S0091–6749(16):30437–7. Kane A, Lau A, Brink R, Tangye SG, Deenick EK. B-cell-specific STAT3 deficiency: Insight into the molecular basis of autosomal-dominant hyper-IgE syndrome. J Allergy Clin Immunol. 2016;S0091–6749(16):30437–7.
9.
go back to reference Frans G, Moens L, Schrijvers R, Wuyts G, Bouckaert B, Schaballie H, et al. PID in disguise: molecular diagnosis of IRAK-4 deficiency in an adult previously misdiagnosed with autosomal dominant hyper IgE syndrome. J Clin Immunol. 2015;35(8):739–44.CrossRefPubMed Frans G, Moens L, Schrijvers R, Wuyts G, Bouckaert B, Schaballie H, et al. PID in disguise: molecular diagnosis of IRAK-4 deficiency in an adult previously misdiagnosed with autosomal dominant hyper IgE syndrome. J Clin Immunol. 2015;35(8):739–44.CrossRefPubMed
10.
go back to reference Chandesris MO, 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.CrossRefPubMedCentral Chandesris MO, 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.CrossRefPubMedCentral
11.
go back to reference Ma CS, Chew GY, Simpson N, Priyadarshi A, Wong M, Grimbacher B, et al. Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. J Exp Med. 2008;205(7):1551–7.CrossRefPubMedPubMedCentral Ma CS, Chew GY, Simpson N, Priyadarshi A, Wong M, Grimbacher B, et al. Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. J Exp Med. 2008;205(7):1551–7.CrossRefPubMedPubMedCentral
12.
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.CrossRefPubMedPubMedCentral 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.CrossRefPubMedPubMedCentral
13.
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.CrossRefPubMed 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.CrossRefPubMed
14.
go back to reference Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, et al. Immunodeficiencies. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. Science. 2015;349(6248):606–13.CrossRefPubMedPubMedCentral Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, et al. Immunodeficiencies. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. Science. 2015;349(6248):606–13.CrossRefPubMedPubMedCentral
15.
go back to reference Liu L, Okada S, Kong XF, 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.CrossRefPubMedPubMedCentral Liu L, Okada S, Kong XF, 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.CrossRefPubMedPubMedCentral
16.
go back to reference Marodi L, Cypowyj S, Toth B, Chernyshova L, Puel A, Casanova JL. Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species. J Allergy Clin Immunol. 2012;130(5):1019–27.CrossRefPubMedPubMedCentral Marodi L, Cypowyj S, Toth B, Chernyshova L, Puel A, Casanova JL. Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species. J Allergy Clin Immunol. 2012;130(5):1019–27.CrossRefPubMedPubMedCentral
17.
go back to reference Ma CS, Wong N, Rao G, Nguyen A, Avery DT, Payne K, et al. Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets. J Exp Med. 2016;213(8):1589–608.CrossRefPubMed Ma CS, Wong N, Rao G, Nguyen A, Avery DT, Payne K, et al. Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets. J Exp Med. 2016;213(8):1589–608.CrossRefPubMed
18.
go back to reference Wilson RP, Ives ML, Rao G, Lau A, Payne K, Kobayashi M, et al. STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function. J Exp Med. 2015;212(6):855–64.CrossRefPubMedPubMedCentral Wilson RP, Ives ML, Rao G, Lau A, Payne K, Kobayashi M, et al. STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function. J Exp Med. 2015;212(6):855–64.CrossRefPubMedPubMedCentral
19.
go back to reference Nkansah E, Shah R, Collie GW, Parkinson GN, Palmer J, Rahman KM, et al. Observation of unphosphorylated STAT3 core protein binding to target dsDNA by PEMSA and X-ray crystallography. FEBS Lett. 2013;587(7):833–9.CrossRefPubMed Nkansah E, Shah R, Collie GW, Parkinson GN, Palmer J, Rahman KM, et al. Observation of unphosphorylated STAT3 core protein binding to target dsDNA by PEMSA and X-ray crystallography. FEBS Lett. 2013;587(7):833–9.CrossRefPubMed
20.
go back to reference Jiao H, Toth B, Erdos M, Fransson I, Rakoczi E, Balogh I, et al. Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. Mol Immunol. 2008;46(1):202–6.CrossRefPubMed Jiao H, Toth B, Erdos M, Fransson I, Rakoczi E, Balogh I, et al. Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. Mol Immunol. 2008;46(1):202–6.CrossRefPubMed
21.
go back to reference Grimbacher B, Dutra AS, Holland SM, Fischer RE, Pao M, Gallin JI, et al. Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation. Genet Med. 1999;1(5):213–8.CrossRefPubMed Grimbacher B, Dutra AS, Holland SM, Fischer RE, Pao M, Gallin JI, et al. Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation. Genet Med. 1999;1(5):213–8.CrossRefPubMed
22.
go back to reference Wlodarski MW, Hirabayashi S, Pastor V, Stary J, Hasle H, Masetti R, et al. Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood. 2016;127(11):1387–97.CrossRefPubMed Wlodarski MW, Hirabayashi S, Pastor V, Stary J, Hasle H, Masetti R, et al. Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood. 2016;127(11):1387–97.CrossRefPubMed
23.
go back to reference Shiow LR, Paris K, Akana MC, Cyster JG, Sorensen RU, Puck JM. Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. Clin Immunol. 2009;131(1):24–30.CrossRefPubMed Shiow LR, Paris K, Akana MC, Cyster JG, Sorensen RU, Puck JM. Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. Clin Immunol. 2009;131(1):24–30.CrossRefPubMed
24.
go back to reference Tang KL, Antshel KM, Fremont WP, Kates WR. Behavioral and psychiatric phenotypes in 22q11.2 deletion syndrome. J Dev Behav Pediatr. 2015;36(8):639–50.CrossRefPubMedPubMedCentral Tang KL, Antshel KM, Fremont WP, Kates WR. Behavioral and psychiatric phenotypes in 22q11.2 deletion syndrome. J Dev Behav Pediatr. 2015;36(8):639–50.CrossRefPubMedPubMedCentral
25.
go back to reference Godfrey DI, Uldrich AP, McCluskey J, Rossjohn J, Moody DB. The burgeoning family of unconventional T cells. Nat Immunol. 2015;16(11):1114–23.CrossRefPubMed Godfrey DI, Uldrich AP, McCluskey J, Rossjohn J, Moody DB. The burgeoning family of unconventional T cells. Nat Immunol. 2015;16(11):1114–23.CrossRefPubMed
26.
go back to reference Maher CO, Dunne K, Comerford R, O’Dea S, Loy A, Woo J, et al. Candida albicans stimulates IL-23 release by human dendritic cells and downstream IL-17 secretion by Vdelta1 T cells. J Immunol. 2015;194(12):5953–60.CrossRefPubMed Maher CO, Dunne K, Comerford R, O’Dea S, Loy A, Woo J, et al. Candida albicans stimulates IL-23 release by human dendritic cells and downstream IL-17 secretion by Vdelta1 T cells. J Immunol. 2015;194(12):5953–60.CrossRefPubMed
27.
go back to reference Fenoglio D, Poggi A, Catellani S, Battaglia F, Ferrera A, Setti M, et al. Vdelta1 T lymphocytes producing IFN-gamma and IL-17 are expanded in HIV-1-infected patients and respond to Candida albicans. Blood. 2009;113(26):6611–8.CrossRefPubMed Fenoglio D, Poggi A, Catellani S, Battaglia F, Ferrera A, Setti M, et al. Vdelta1 T lymphocytes producing IFN-gamma and IL-17 are expanded in HIV-1-infected patients and respond to Candida albicans. Blood. 2009;113(26):6611–8.CrossRefPubMed
Metadata
Title
AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity
Authors
Leen Moens
Heidi Schaballie
Barbara Bosch
Arnout Voet
Xavier Bossuyt
Jean-Laurent Casanova
Stephanie Boisson-Dupuis
Stuart G. Tangye
Isabelle Meyts
Publication date
01-01-2017
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 1/2017
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-016-0351-9

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