PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity

Journal of Allergy and Clinical Immunology

Volumn 135, Issue 6, 2015, Pages 1578-1588.e5

  Mathieu, Anne Laure ^a,b,c   Verronese, Estelle ^d   Rice, Gillian I ^e   Fouyssac, Fanny ^f   Bertrand, Yves ^g   Picard, Capucine ^h   Chansel, Marie ^h   Walter, Jolan E ⁱ   Notarangelo, Luigi D ^j   Butte, Manish J ^k   Nadeau, Kari Christine ^k   Csomos, Krisztian ⁱ   Chen, David J ^l   Chen, Karin ^m   Delgado, Ana ^d   Rigal, Chantal ^d   Bardin, Christine ^d   Schuetz, Catharina ⁿ   Moshous, Despina ^h   Reumaux, Héloïse ^o   Plenat, François ^f   Phan, Alice ^g   Zabot, Marie Thérèse ^q   Balme, Brigitte ^p   Viel, Sébastien ^a,b,c,q   Bienvenu, Jacques ^a,b,c,q   Cochat, Pierre ^g   Van Der Burg, Mirjam ^r   Caux, Christophe ^d   Kemp, E Helen ^s   Rouvet, Isabelle ^q   Malcus, Christophe ^t   Méritet, Jean Francois ^u   Lim, Annick ^v   Crow, Yanick J ^e   Fabien, Nicole ^q   Ménétrier Caux, Christine ^d   De Villartay, Jean Pierre ^h   Walzer, Thierry ^a,b,c   Belot, Alexandre ^a,b,c,g   more..

^a CENTRE INTERNATIONAL DE RECHERCHE EN INFECTIOLOGIE   (France)

^b UNIVERSITÉ DE LYON   (France)

^c CNRS   (France)

^d UNIVERSITÉ DE LYON   (France)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

^f UNIVERSITY HOSPITAL OF NANCY   (France)

^g UNIVERSITÉ LYON 1   (France)

^h IMAGINE INSTITUTE   (France)

ⁱ MASSACHUSETTS GENERAL HOSPITAL   (United States)

^j BOSTON CHILDREN S HOSPITAL   (United States)

^k STANFORD UNIVERSITY   (United States)

^l UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^m UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

ⁿ UNIVERSITY HOSPITAL ULM   (Germany)

^o LILLE UNIVERSITY HOSPITAL   (France)

^p CENTRE HOSPITALIER LYON SUD   (France)

^q HOSPICES CIVILS DE LYON   (France)

^r ERASMUS MEDICAL CENTER   (Netherlands)

^s UNIVERSITY OF SHEFFIELD   (United Kingdom)

^t EDOUARD HERRIOT HOSPITAL   (France)

^u Université Claude Bernard Lyon 1 ^*  (France)

^v INSTITUT PASTEUR   (France)

more..

Author keywords

Autoimmune regulator; autoimmunity; DNA dependent protein kinase catalytic subunit; PRKDC; recombination activating gene; severe combined immunodeficiency; tolerance; VDJ recombination

Indexed keywords

ANTINUCLEAR ANTIBODY; AUTOANTIBODY; AUTOIMMUNE REGULATOR PROTEIN; B CELL ACTIVATING FACTOR; BUSULFAN; CALCIUM SENSING RECEPTOR AUTOANTIBODY; DNA DEPENDENT PROTEIN KINASE; DOUBLE STRANDED DNA; FLUDARABINE; GAMMA INTERFERON; GLYCINE; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN G2; IMMUNOGLOBULIN G4; INTERFERON; INTERFERON ALPHA INDUCIBLE PROTEIN 27; MESSENGER RNA; METHOTREXATE; NONSTEROID ANTIINFLAMMATORY AGENT; PROTEIN; STEROID; T LYMPHOCYTE RECEPTOR 5 BETA; T LYMPHOCYTE RECEPTOR BETA CHAIN; THYROGLOBULIN ANTIBODY; THYROID PEROXIDASE ANTIBODY; THYROTROPIN; THYROXINE; TRANSCRIPTION FACTOR AUTOIMMUNE REGULATOR; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG; NUCLEAR PROTEIN; PRKDC PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; ANTIBODY BLOOD LEVEL; ANTIBODY PRODUCTION; ANTIBODY RESPONSE; ANTIGEN EXPRESSION; ARTICLE; ASPIRATION PNEUMONIA; ASTHMA; AUTOIMMUNE DISEASE; AUTOIMMUNITY; B LYMPHOCYTE; BONE MARROW TRANSPLANTATION; BRONCHIECTASIS; CAUSE OF DEATH; CELL EXPANSION; CELL SURVIVAL; CHILD; CHROMOSOME 8; CHRONIC DIARRHEA; CLINICAL FEATURE; COLD SENSITIVITY; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; CYTOKINE PRODUCTION; DENDRITIC CELL; DNA REPAIR; DOUBLE STRANDED DNA BREAK; DRUG TOLERANCE; DRUG WITHDRAWAL; EAR INFECTION; ENZYME ACTIVE SITE; EPITHELIOID GRANULOMA; EPITHELIUM CELL; FAILURE TO THRIVE; FATIGUE; FIBROBLAST; GENE; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GRANULOMA; HASHIMOTO DISEASE; HEART RATE; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOGLOBULIN DEFICIENCY; IN VITRO STUDY; IN VIVO STUDY; INTERFERON INDUCTION; JUVENILE RHEUMATOID ARTHRITIS; LUNG INFECTION; LYMPHOCYTE ACTIVATION; LYMPHOCYTE COUNT; LYMPHOCYTE FUNCTION; LYMPHOCYTE PROLIFERATION; MEDICAL HISTORY; MONOCLONAL IMMUNOGLOBULINEMIA; MOUSE; MYELOABLATIVE CONDITIONING; NATURAL KILLER CELL; NONHUMAN; ONSET AGE; PATIENT; POLYARTHRITIS; POSTOPERATIVE PERIOD; PRIORITY JOURNAL; PRKDC GENE; PROTEIN BLOOD LEVEL; RNA ANALYSIS; SARCOIDOSIS; SCHOOL CHILD; SKIN GRANULOMA; SPLEEN BIOPSY; SPLEEN GRANULOMA; STEROID THERAPY; T LYMPHOCYTE; THYROTROPIN BLOOD LEVEL; TREATMENT OUTCOME; TREATMENT RESPONSE; UNINDEXED SEQUENCE; VDJ RECOMBINATION; YOUNG ADULT; ADOLESCENT; ANIMAL; BIOSYNTHESIS; CASE REPORT; DEFICIENCY; DNA END JOINING REPAIR; FEMALE; GENE EXPRESSION REGULATION; GENETICS; IMMUNOLOGICAL TOLERANCE; IMMUNOLOGY; MALE; METABOLISM; MUTATION; PATHOLOGY; SKIN TUMOR; TH1 CELL; TH2 CELL;

ADOLESCENT; ANIMALS; AUTOANTIBODIES; AUTOIMMUNITY; B-LYMPHOCYTES; DNA END-JOINING REPAIR; DNA-ACTIVATED PROTEIN KINASE; FEMALE; GENE EXPRESSION REGULATION; GRANULOMA; HUMANS; IMMUNE TOLERANCE; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MICE; MUTATION; NUCLEAR PROTEINS; SKIN NEOPLASMS; TH1 CELLS; TH2 CELLS; TRANSCRIPTION FACTORS; V(D)J RECOMBINATION; YOUNG ADULT;

EID: 84942619984     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2015.01.040     Document Type: Article

References (43)

1. A. Fischer Human primary immunodeficiency diseases Immunity 27 2007 835 845
2. K. Felgentreff, R. Perez-Becker, C. Speckmann, K. Schwarz, K. Kalwak, G. Markelj, and et al. Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency Clin Immunol 141 2011 73 82
3. W.T. Shearer, E. Dunn, L.D. Notarangelo, C.C. Dvorak, J.M. Puck, B.R. Logan, and et al. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience J Allergy Clin Immunol 133 2014 1092 1098
4. A. Villa, L.D. Notarangelo, and C.M. Roifman Omenn syndrome: inflammation in leaky severe combined immunodeficiency J Allergy Clin Immunol 122 2008 1082 1086
5. J.P. De Villartay V(D)J recombination deficiencies Adv Exp Med Biol 650 2009 46 58
6. C. Schuetz, K. Huck, S. Gudowius, M. Megahed, O. Feyen, B. Hubner, and et al. An immunodeficiency disease with RAG mutations and granulomas N Engl J Med 358 2008 2030 2038
7. E. Grunebaum, A. Bates, and C.M. Roifman Omenn syndrome is associated with mutations in DNA ligase IV J Allergy Clin Immunol 122 2008 1219 1220
8. M. Ege, Y. Ma, B. Manfras, K. Kalwak, H. Lu, M.R. Lieber, and et al. Omenn syndrome due to ARTEMIS mutations Blood 105 2005 4179 4186
9. J.E. Walter, F. Rucci, L. Patrizi, M. Recher, S. Regenass, T. Paganini, and et al. Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency J Exp Med 207 2010 1541 1554
10. M.S. Anderson, and M.A. Su Aire and T cell Development Curr Opin Immunol 23 2011 198 206
11. D. Mathis, and C. Benoist Aire Annu Rev Immunol 27 2009 287 312
12. N.G. Gavalas, E.H. Kemp, K.J. Krohn, E.M. Brown, P.F. Watson, and A.P. Weetman The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1 J Clin Endocrinol Metab 92 2007 2107 2114
13. M. Irla, S. Hugues, J. Gill, T. Nitta, Y. Hikosaka, I.R. Williams, and et al. Autoantigen-specific interactions with CD4+ thymocytes control mature medullary thymic epithelial cell cellularity Immunity 29 2008 451 463
14. C.D. Surh, B. Ernst, and J. Sprent Growth of epithelial cells in the thymic medulla is under the control of mature T cells J Exp Med 176 1992 611 616
15. P. Poliani, W. Vermi, and F. Facchetti Thymus microenvironment in human primary immunodeficiency diseases Curr Opin Allergy Clin Immunol 9 2009 489 495
16. P.L. Poliani, F. Facchetti, M. Ravanini, A.R. Gennery, A. Villa, C.M. Roifman, and et al. Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome Blood 114 2009 105 108
17. P. Cavadini, W. Vermi, F. Facchetti, S. Fontana, S. Nagafuchi, E. Mazzolari, and et al. AIRE deficiency in thymus of 2 patients with Omenn syndrome J Clin Invest 115 2005 728 732
18. S. Zhang, B. Schlott, M. Görlach, and F. Grosse DNA-dependent protein kinase (DNA-PK) phosphorylates nuclear DNA helicase II/RNA helicase A and hnRNP proteins in an RNA-dependent manner Nucleic Acids Res 32 2004 1 10
19. T. Blunt, D. Gell, M. Fox, G.E. Taccioli, A.R. Lehmann, S.P. Jackson, and et al. Identification of a nonsense mutation in the carboxyl-terminal region of DNA-dependent protein kinase catalytic subunit in the SCID mouse Proc Natl Acad Sci U S A 93 1996 10285 10290
20. Y. Gu, K.J. Seidl, G.A. Rathbun, C. Zhu, J.P. Manis, N. van der Stoep, and et al. Growth retardation and leaky SCID phenotype of Ku70-deficient mice Immunity 7 1997 653 665
21. J. Abramson, M. Giraud, C. Benoist, and D. Mathis Aire's partners in the molecular control of immunological tolerance Cell 140 2010 123 135
22. L. Woodbine, J.A. Neal, N.K. Sasi, M. Shimada, K. Deem, H. Coleman, and et al. PRKDC mutations in a SCID patient with profound neurological abnormalities J Clin Invest 123 2013 2969 2980
23. M. Van der Burg, H. Ijspeert, N.S. Verkaik, T. Turul, W.W. Wiegant, K. Morotomi-Yano, and et al. A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining J Clin Invest 119 2009 91 98
24. E. Torrado, and A.M. Cooper IL-17 and Th17 cells in tuberculosis Cytokine Growth Factor Rev 21 2010 455 462
25. G.I. Rice, Y. del Toro Duany, E.M. Jenkinson, G.M. Forte, B.H. Anderson, G. Ariaudo, and et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Nat Genet 46 2014 503 509
26. G. De Saint-Basile, F. Le Deist, J.P. de Villartay, N. Cerf-Bensussan, O. Journet, N. Brousse, and et al. Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome) J Clin Invest 87 1991 1352 1359
27. L. Schandené, A. Ferster, F. Mascart-Lemone, A. Crusiaux, C. Gérard, A. Marchant, and et al. T helper type 2-like cells and therapeutic effects of interferon-gamma in combined immunodeficiency with hypereosinophilia (Omenn's syndrome) Eur J Immunol 23 1993 56 60
28. P. Miossec Interleukin-17 and Th17 cells: from adult to juvenile arthritis-now it is serious! Arthritis Rheum 63 2011 2168 2171
29. V. Hölttä, P. Klemetti, T. Sipponen, M. Westerholm-Ormio, G. Kociubinski, H. Salo, and et al. IL-23/IL-17 immunity as a hallmark of Crohn's disease Inflamm Bowel Dis 14 2008 1175 1184
30. B. Ten Berge, M.S. Paats, I.M. Bergen, B. van den Blink, H.C. Hoogsteden, B.N. Lambrecht, and et al. Increased IL-17A expression in granulomas and in circulating memory T cells in sarcoidosis Rheumatology (Oxford) 51 2012 37 46
31. J. Park, I. Munagala, H. Xu, D. Blankenship, P. Maffucci, D. Chaussabel, and et al. Interferon signature in the blood in inflammatory common variable immune deficiency PLoS One 8 2013 e74893
32. P. Scapini, Y. Hu, C.L. Chu, T.S. Migone, A.L. Defranco, M.A. Cassatella, and et al. Myeloid cells, BAFF, and IFN-gamma establish an inflammatory loop that exacerbates autoimmunity in Lyn-deficient mice J Exp Med 207 2010 1757 1773
33. A.P. Sutherland, L.G. Ng, C.A. Fletcher, B. Shum, R.A. Newton, S.T. Grey, and et al. BAFF augments certain Th1-associated inflammatory responses J Immunol 174 2005 5537 5544
34. N. Romberg, N. Chamberlain, D. Saadoun, M. Gentile, T. Kinnunen, Y.S. Ng, and et al. CVID-associated TACI mutations affect autoreactive B cell selection and activation J Clin Invest 123 2013 4283 4293
35. E. Andrès, F.X. Limbach, J.E. Kurtz, V. Kurtz-Illig, T. Schaeverbeke, F. Pflumio, and et al. Primary humoral immunodeficiency (late-onset common variable immunodeficiency) with antinuclear antibodies and selective immunoglobulin deficiency Am J Med 111 2001 489 491
36. M. Manuel, O. Tredan, T. Bachelot, G. Clapisson, A. Courtier, G. Parmentier, and et al. Lymphopenia combined with low TCR diversity (divpenia) predicts poor overall survival in metastatic breast cancer patients Oncoimmunology 1 2012 432 440
37. A. Lim, V. Baron, L. Ferradini, M. Bonneville, P. Kourilsky, and C. Pannetier Combination of MHC-peptide multimer-based T cell sorting with the Immunoscope permits sensitive ex vivo quantitation and follow-up of human CD8+ T cell immune responses J Immunol Methods 261 2002 177 194
38. C. Pannetier, S. Delassus, S. Darche, C. Saucier, and P. Kourilsky Quantitative titration of nucleic acids by enzymatic amplification reactions run to saturation Nucleic Acids Res 21 1993 577 583
39. S. Rubinstein, P.C. Familletti, and S. Pestka Convenient assay for interferons J Virol 37 1981 755 758
40. P.C. Familletti, S. Rubinstein, and S. Pestka A convenient and rapid cytopathic effect inhibition assay for interferon Methods Enzymol 78 1981 387 394
41. A. Mayer, C. Ploix, J. Orgiazzi, A. Desbos, A. Moreira, H. Vidal, and et al. Calcium-sensing receptor autoantibodies are relevant markers of acquired hypoparathyroidism J Clin Endocrinol Metab 89 2004 4484 4488
42. N.G. Gavalas, E.H. Kemp, K.J. Krohn, E.M. Brown, P.F. Watson, and A.P. Weetman The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1 J Clin Endocrinol Metab 92 2007 2107 2114
43. S. Guyomard, G. Salles, M. Coudurier, H. Rousset, B. Coiffier, J. Bienvenu, and et al. Prevalence and pattern of antinuclear autoantibodies in 347 patients with non-Hodgkin's lymphoma Br J Haematol 123 2003 90 99