Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency

Clinical Immunology

Volumn 160, Issue 2, 2015, Pages 255-260

  Tamura, Shinobu ^a   Higuchi, Kohei ^b   Tamaki, Masaharu ^a   Inoue, Chizuko ^c   Awazawa, Ryoko ^d   Mitsuki, Noriko ^e   Nakazawa, Yuka ^f,g,h   Mishima, Hiroyuki ^f   Takahashi, Kenzo ^d   Kondo, Osamu ^b   Imai, Kohsuke ^e   Morio, Tomohiro ^e   Ohara, Osamu ⁱ   Ogi, Tomoo ^f,g,h   Furukawa, Fukumi ^j   Inoue, Masami ^b   Yoshiura, Koh Ichiro ^f   Kanazawa, Nobuo ^j  

^a Division of Urology   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c Sarashi Clinic   (Japan)

^d UNIVERSITY OF THE RYUKYUS   (Japan)

^e TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^f NAGASAKI UNIVERSITY   (Japan)

^g NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^h NAGOYA UNIVERSITY   (Japan)

ⁱ KAZUSA DNA RESEARCH INSTITUTE   (Japan)

^j WAKAYAMA MEDICAL UNIVERSITY   (Japan)

more..

Author keywords

DNA ligase IV; Hematopoietic stem cell transplantation; LIG4 syndrome; Severe combined immunodeficiency; TREC KREC; Whole exome sequencing

Indexed keywords

POLYDEOXYRIBONUCLEOTIDE SYNTHASE; DNA LIGASE; DNA LIGASE (ATP);

ADOLESCENT; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; B LYMPHOCYTE; CASE REPORT; DNA STRAND BREAKAGE; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; RADIOSENSITIVITY; SEQUENCE ANALYSIS; SEVERE COMBINED IMMUNODEFICIENCY; T LYMPHOCYTE; CRANIOFACIAL MALFORMATION; GENETICS; GROWTH DISORDER; IMMUNE DEFICIENCY; MICROCEPHALY; PANCYTOPENIA;

ADOLESCENT; CRANIOFACIAL ABNORMALITIES; DNA LIGASES; GROWTH DISORDERS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MICROCEPHALY; PANCYTOPENIA; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84938074369     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2015.07.004     Document Type: Article

References (36)

1. Sekiguchi J.M., Ferguson D.O. DNA double-strand break repair: a relentless hunt uncovers new prey. Cell 2006, 124:260-262.
2. van der Burg M., Ijspeert H., Verkaik N.S., Turul T., Wiegant W.W., Morotomi-Yano K., Mari P.O., Tezcan I., Chen D.J., Zdzienicka M.Z., van Dongen J.J., van Gent D.C. A DNA-PKcs mutation in a radiosensitive T-B-SCID patient inhibits Artemis activation and nonhomologous end-joining. J. Clin. Invest. 2009, 119:91-98.
3. Moshous D., Pannetier C., Chasseval R.R., Deist F.F., Cavazzana-Calvo M., Romana S., Macintyre E., Canioni D., Brousse N., Fischer A., Casanova J.L., Villartay J.P. Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. J. Clin. Invest. 2003, 111:381-387.
4. Buck D., Malivert L., de Chasseval R., Barraud A., Fondanèche M.C., Sanal O., Plebani A., Stéphan J.L., Hufnagel M., le Deist F., Fischer A., Durandy A., de Villartay J.P., Revy P. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell 2006, 124:287-299.
5. Difilippantonio M.J., Petersen S., Chen H.T., Johnson R., Jasin M., Kanaar R., Ried T., Nussenzweig A. Evidence for replicative repair of DNA double-strand breaks leading to oncogenic translocation and gene amplification. J. Exp. Med. 2008, 205:3079-3090.
6. Wang J.H., Alt F.W., Gostissa M., Datta A., Murphy M., Alimzhanov M.B., Coakley K.M., Rajewsky K., Manis J.P., Yan C.T. Oncogenic transformation in the absence of Xrcc4 targets peripheral B cells that have undergone editing and switching. J. Exp. Med. 2008, 205:3079-3090.
7. Nijnik A., Dawson S., Crockford T.L., Woodbine L., Visetnoi S., Bennett S., Jones M., Turner G.D., Jeggo P.A., Goodnow C.C., Cornall R.J. Impaired lymphocyte development and antibody class switching and increased malignancy in a murine model of DNA ligase IV syndrome. J. Clin. Invest. 2009, 119:1696-1705.
8. Gatz S.A., Ju L., Gruber R., Hoffmann E., Carr A.M., Wang Z.Q., Liu C., Jeggo P.A. Requirement for DNA ligase IV during embryonic neuronal development. J. Neurosci. 2011, 31:10088-10100.
9. Tilgner K., Neganova I., Moreno-Gimeno I., Al-Aama J.Y., Burks D., Yung S., Singhapol C., Saretzki G., Evans J., Gorbunova V., Gennery A., Przyborski S., Stojkovic M., Armstrong L., Jeggo P., Lako M. A human iPSC model of Ligase IV deficiency reveals an important role for NHEJ-mediated-DSB repair in the survival and genomic stability of induced pluripotent stem cells and emerging haematopoietic progenitors. Cell Death Differ. 2013, 20:1089-1100.
10. O'Driscoll M., Cerosaletti K.M., Girard P.M., Dai Y., Stumm M., Kysela B., Hirsch B., Gennery A., Palmer S.E., Seidel J., Gatti R.A., Varon R., Oettinger M.A., Neitzel H., Jeggo P.A., Concannon P. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol. Cell 2001, 8:1175-1185.
11. Murray J.E., Bicknell L.S., Yigit G., Duker A.L., van Kogelenberg M., Haghayegh S., Wieczorek D., Kayserili H., Albert M.H., Wise C.A., Brandon J., Kleefstra T., Warris A., van der Flier M., Bamforth J.S., Doonanco K., Adès L., Ma A., Field M., Johnson D., Shackley F., Firth H., Woods G.G., Nürnberg P., Gatti R.A., Hurles M., Bober M.B., Wollnik B., Jackson A.P. Extreme growth failure is a common presentation of Ligase IV deficiency. Hum. Mutat. 2014, 35:76-85.
12. Riballo E., Critchlow S.E., Teo S.H., Doherty A.J., Priestley A., Broughton B., Kysela B., Beamish H., Plowman N., Arlett C.F., Lehmann A.R., Jackson S.P., Jeggo P.A. Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient. Curr. Biol. 1999, 9:699-702.
13. van der Burg M., van Veelen L.R., Verkaik N.S., Wiegant W.W., Hartwig N.G., Barendregt B.H., Brugmans L., Raams A., Jaspers N.G., Zdzienicka M.Z., van Dongen J.J., van Gent D.C. A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. J. Clin. Invest. 2006, 116:137-145.
14. Enders A., Fisch P., Schwarz K., Duffner U., Pannicke U., Nikolopoulos E., Peters A., Orlowska-Volk M., Schindler D., Friedrich W., Selle B., Niemeyer C., Ehl S. A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J. Immunol. 2006, 176:5060-5068.
15. Hernandez P.A., Gorlin R.J., Lukens J.N., Taniuchi S., Bohinjec J., Francois F., Klotman M.E., Diaz G.A. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat. Genet. 2003, 34:70-74.
16. Leiding J.W., Holland S.M. Warts and all: HPV in primary immunodeficiencies. J. Allergy Clin. Immunol. 2012, 130:1030-1048.
17. Kamae C., Nakagawa N., Sato H., Honma K., Mitsuiki N., Ohara O., Kanegane H., Pasic S., Pan-Hammarström Q., van Zelm M.C., Morio T., Imai K., Nonoyama S. Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles. J. Allergy Clin. Immunol. 2013, 131:1437-1440.
18. Morinishi Y., Imai K., Nakagawa N., Sato H., Horichi K., Ohtsuka Y., Kaneda Y., Taga T., Hisakawa H., Miyaji R., Endo M., Oh-ishi T., Kamachi Y., Akahane K., Kobayashi C., Tsuchida M., Morio T., Sasahara Y., Kumaki S., Ishigaki K., Yoshida M., Urabe T., Kobayashi N., Okimoto Y., Reichenbach J., Hashii Y., Tsuji Y., Kogawa K., Yamaguchi S., Kanegane H., Miyawaki T., Yamada M., Ariga T., Nonoyama S. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards. J. Pediatr. 2009, 155:829-833.
19. McKenna A., Hanna M., Banks E., Sivachenko A., Cibulskis K., Kernytsky A., Garimella K., Altshuler D., Gabriel S., Daly M., DePristo M.A. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010, 20:1297-1303.
20. Mishima H., Sasaki K., Tanaka M., Tatebe O., Yoshiura K. Agile parallel bioinformatics workflow management using Pwrake. BMC Res. Notes 2011, 4:331-338.
21. Wang K., Li M., Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010, 38:e164.
22. The 1000 Genomes Project Consortium An integrated map of genetic variation from 1092 human genomes. Nature 2012, 491:56-65.
23. Kent W.J., Sugnet C.W., Furey T.S., Roskin K.M., Pringle T.H., Zahler A.M., Haussler D. The human genome browser at UCSC. Genome Res. 2002, 12:996-1006.
24. Jia N., Nakazawa Y., Guo C., Shimada M., Sethi M., Takahashi Y., Ueda H., Nagayama Y., Ogi T. A rapid, comprehensive system for assaying DNA repair activity and cytotoxic effects of DNA-damaging reagents. Nat. Protoc. 2015, 10:12-24.
25. Ivashkevich A., Redon C.E., Nakamura A.J., Martin R.F., Martin O.A. Use of the γ-H2AX assay to monitor DNA damage and repair in translational cancer research. Cancer Lett. 2012, 327:123-133.
26. Gaspar H.B., Qasim W., Davies E.G., Rao K., Amrolia P.J., Veys P. How I treat severe combined immunodeficiency. Blood 2013, 122:3749-3758.
27. Gruhn B., Seidel J., Zintl F., Varon R., Tonnies H., Neitzel H., Bechtold A., Hoehn H., Schindler D. Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure. Orphanet J. Rare Dis. 2007, 2:1-8.
28. O'Driscoll M., Jeggo P.A. CsA can induce DNA double-strand breaks: implications for BMT regimens particularly for individuals with defective DNA repair. Bone Marrow Transplant. 2008, 41:983-989.
29. Toita N., Hatano N., Ono S., Yamada M., Kobayashi R., Kobayashi I., Kawamura N., Okano M., Satoh A., Nakagawa A., Ohshima K., Shindoh M., Takami T., Kobayashi K., Ariga T. Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome. Am. J. Med. Genet. A 2007, 143:742-745.
30. Buck D., Moshous D., de Chasseval R., Ma Y., le Deist F., Cavazzana-Calvo M., Fischer A., Casanova J.-L., Lieber M.R., de Villartay J.-P. Severe combined immunodeficiency and microcephaly in sibling with hypomorphic mutations in DNA ligase IV. Eur. J. Immunol. 2006, 36:224-235.
31. Grunebaum E., Bates A., Roifman C.M. Omenn syndrome is associated with mutations in DNA ligase IV. J. Allergy Clin. Immunol. 2008, 122:1219-1220.
32. Unal S., Cerosaletti K., Uckan-Cetinkaya D., Cetin M., Gumruk F. A novel mutation in a family with DNA ligase IV deficiency syndrome. Pediatr. Blood Cancer 2009, 53:482-484.
33. Booth C., Lawson S., Veys P. The current role of T cell depletion in paediatric stem cell transplantation. Br. J. Haematol. 2013, 162:177-190.
34. Pai S.Y., Logan B.R., Griffith L.M., Buckley R.H., Parrott R.E., Dvorak C.C., Kapoor N., Hanson I.C., Filipovich A.H., Jyonouchi S., Sullivan K.E., Small T.N., Burroughs L., Skoda-Smith S., Haight A.E., Grizzle A., Pulsipher M.A., Chan K.W., Fuleihan R.L., Haddad E., Loechelt B., Aquino V.M., Gillio A., Davis J., Knutsen A., Smith A.R., Moore T.B., Schroeder M.L., Goldman F.D., Connelly J.A., Porteus M.H., Xiang Q., Shearer W.T., Fleisher T.A., Kohn D.B., Puck J.M., Notarangelo L.D., Cowan M.J., O'Reilly R.J. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N. Engl. J. Med. 2014, 371:434-446.
35. + T and B cells in children with nonmalignant disorders. Blood 2014, 124:822-826.
36. Kwan A., Abraham R.S., Currier R., Brower A., Andruszewski K., Abbott J.K., Baker M., Ballow M., Bartoshesky L.E., Bonilla F.A., Brokopp C., Brooks E., Caggana M., Celestin J., Church J.A., Comeau A.M., Connelly J.A., Cowan M.J., Cunningham-Rundles C., Dasu T., Dave N., De La Morena M.T., Duffner U., Fong C.T., Forbes L., Freedenberg D., Gelfand E.W., Hale J.E., Hanson I.C., Hay B.N., Hu D., Infante A., Johnson D., Kapoor N., Kay D.M., Kohn D.B., Lee R., Lehman H., Lin Z., Lorey F., Abdel-Mageed A., Manning A., McGhee S., Moore T.B., Naides S.J., Notarangelo L.D., Orange J.S., Pai S.Y., Porteus M., Rodriguez R., Romberg N., Routes J., Ruehle M., Rubenstein A., Saavedra-Matiz C.A., Scott G., Scott P.M., Secord E., Seroogy C., Shearer W.T., Siegel S., Silvers S.K., Stiehm E.R., Sugerman R.W., Sullivan J.L., Tanksley S., Tierce M.L., Verbsky J., Vogel B., Walker R., Walkovich K., Walter J.E., Wasserman R.L., Watson M.S., Weinberg G.A., Weiner L.B., Wood H., Yates A.B., Puck J.M., Bonagura V.R. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 2014, 312:729-738.