Hyper-Ige syndrome with a novel stat3 mutation-a single center study from india

Asian Pacific Journal of Allergy and Immunology

Volumn 32, Issue 4, 2014, Pages 321-327

  Saikia, Biman ^a   Suri, Deepti ^b   Goel, Shubham ^a   Rawat, Amit ^b   Minz, Ranjana W ^a   Gupta, Anju ^b   Sharma, Sudha ^a   Ohara, Osamu ^c   Imai, Kohsuke ^d   Nonoyama, Shigeaki ^d   Sehgal, Shobha ^a   Singh, Surjit ^b  

^a Departments of Immunopathology and Pediatrics   (India)

^b POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

^c KAZUSA DNA RESEARCH INSTITUTE   (Japan)

^d NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

Author keywords

Hyper IgE Syndrome; Mycobacterial infection; Novel STAT3 mutation; PhosphoSTAT3; TH17 cells

Indexed keywords

GENOMIC DNA; IMMUNOGLOBULIN E; STAT3 PROTEIN; STAT3 PROTEIN, HUMAN;

ADULT; ARTICLE; CASE REPORT; CHILD; CLINICAL ASSESSMENT; CONTROLLED STUDY; EOSINOPHIL COUNT; EXON; FLOW CYTOMETRY; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPER IGE SYNDROME; INFANT; MALE; MYCOBACTERIOSIS; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PROTEIN PHOSPHORYLATION; SKIN ABSCESS; STAT3 GENE; TH17 CELL; TRANSACTIVATION; GENETICS; IMMUNOLOGY; INDIA; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD;

ADULT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FLOW CYTOMETRY; HUMANS; INDIA; INFANT; JOB SYNDROME; MALE; MUTATION; PEDIGREE; STAT3 TRANSCRIPTION FACTOR; TH17 CELLS;

EID: 84919903845     PISSN: 0125877X     EISSN: 22288694     Source Type: Journal    
DOI: 10.12932/AP0456.32.4.2014     Document Type: Article

References (35)

1. Davis SD, Schaller J, Wedgwood RJ. Job’s Syndrome. Recurrent,‘cold’ staphylococcal abscesses. Lancet. 1966;1:1013-5.
2. Buckley RH, Wray BB, Belmaker EZ. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 1972;49:59-70.
3. 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;357:1608-19.
4. 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;448:1058-62.
5. Murray PJ. The JAK-STAT signaling pathway: input and output integration. J Immunol. 2007;178:2623–9.
6. O’Shea JJ and Murray PJ. Cytokine signaling modules in inflammatory responses. Immunity. 2008;28:477-87.
7. Fischer A. Human primary immunodeficiency diseases. Immunity. 2007;27:835-45.
8. Akira S. Roles of STAT3 defined by tissue-specific gene targeting. Oncogene. 2000;19:2607-11.
9. Laouar Y, Welte T, FU XY and Flavell RA. STAT3 is required for Flt3L-dependent dendritic cell differentiation. Immunity. 2003;19:903-12.
10. Fitzgerald JS, Poehlmann TG, Schleussner E and Market UR. Trophoblast invasion: the role of intracellular cytokine signaling via signal transducer and activator of transcription 3 (STAT3). Hum Reprod Update. 2008;14:335-44.
11. Yang XO, Panopoulos AD, Nurieva R, Chang SH, Wang D, Watowich SS, et al. STAT3 regulates cytokine-mediated generation of inflammatory helper T cells. J Biol Chem. 2007;282:9358-63.
12. Harris TJ, Grosso JF, Yen HR, Xin H, Kortylewski M, Albesiano E, et al. Cutting edge: An in vivo requirement for STAT3 signaling in TH17 development and TH17-dependent autoimmunity. J Immunol. 2007;179:4313-7.
13. Dong C. TH17 cells in development: an updated view of their molecular identity and genetic programming. Nat Rev Immunol. 2008;8:337-48.
14. Ouyang W, Kolls JK and Zheng Y. The biological functions of T helper 17 cell effector cytokines in inflammation. Immunity. 2008;28:454-67.
15. Ma CS, Chew GYJ, 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;205:1551-7.
16. Milner JD, Brenchley JM, Laurence A, Freeman AF, Hill BJ, Elias KM, et al. Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature. 2008;452:773-6.
17. Minegishi Y, Saito M. Molecular mechanisms of the immunological abnormalities in hyper-IgE syndrome. Annals of the New York Academy of Sciences. 2011;1246:34-40.
18. Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006;25:745-55.
19. Woellner C, Schäffer AA, Puck JM, Renner ED, Knebel C, Holland SM, et al. The hyper IgE syndrome and mutations in TYK2. Immunity. 2007;26:535.
20. Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, et al. Combined Immunodeficiency Associated with DOCK8 Mutations. N Engl J Med. 2009;361:2046-55.
21. Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol. 2009;124:1289-302.
22. Su HC. DOCK8 (Dedicator of cytokinesis 8) deficiency. Curr Opin Allergy Clin Immunol. 2011;8:1-10.
23. Su HC, Jing H, Zhang Q. DOCK8 deficiency. Annals of the New York Academy of Sciences. 2011;1246:26-33.
24. Grimbacher B, Schäffer AA, Holland SM, Davis J, Gallin JI, Malech HL, et al. Genetic linkage of Hyper-IgE syndrome to chromosome 4. Am. J. Hum. Genet. 1999;65:735-44.
25. Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, et al. Hyper-IgE Syndrome with recurrent infections-An autosomal dominant multisysytem disorder. N Engl J Med. 1999;340:692-702.
26. Freeman AF and Holland SM. The hyper-IgE syndromes. Immunol Allergy Clin North Am. 2008;28:277-9.
27. Lee WI, Huang JL, Yeh KW, Jaing TH, Lin TY, Huang YC, et al. Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs). J Formos Med Assoc. 2011;110:750-8.
28. Metin A, Uysal G, Güven A, Unlu A, Oztürk MH. Tuberculous brain abscess in a patient with hyper IgE syndrome. Pediatr Int. 2004;46:97-100.
29. Pasic S. Local bacillus Calmette-Guérin infection in hyperimmunoglobulin-E syndrome. Acta Paediatr. 2002;91:1271-2.
30. Pasic S, Lilic D, Pejnovic N, Vojvodic D, Simic R, Abinun M. Disseminated Bacillus Calmette-Guérin infection in a girl with hyperimmunoglobulin E syndrome. Acta Paediatr. 1998;87:702-4.
31. Woellner C, Gertz EM, Schäffer A, Lagos M, Perro M, Glocker EO, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy and Clin Immunol. 2010;125:424-32.
32. 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 and Clin Immunol. 2010;126:611-7.
33. Chandesris M, 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. 2012;91:1-19.
34. Renner ED, Rylaarsdam S, Aňover-Sombke S, Rack AL, Reichenbach J, Carey JC, et al. Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J Allergy Clin Immunol. 2008;122:181-7.
35. He J, Shi J, Xu X, Zhang W, Wang Y, Chen X, et al. STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway. J Biosci. 2012;37:243-257.