Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience

Journal of Allergy and Clinical Immunology

Volumn 133, Issue 4, 2014, Pages 1092-1098

  Shearer, William T ^a   Dunn, Elizabeth ^b   Notarangelo, Luigi D ^c   Dvorak, Christopher C ^b   Puck, Jennifer M ^b   Logan, Brent R ^d   Griffith, Linda M ^e   Kohn, Donald B ^f   O'Reilly, Richard J ^g   Fleisher, Thomas A ^h   Pai, Sung Yun ^d   Martinez, Caridad A ^a   Buckley, Rebecca H ⁱ   Cowan, Morton J ^b  

^a TEXAS CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c MEDICAL COLLEGE OF WISCONSIN   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^h NATIONAL INSTITUTES OF HEALTH   (United States)

ⁱ DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Allogeneic hematopoietic cell transplantation; clinical trial; gene therapy; primary immunodeficiency

Indexed keywords

ADENOSINE DEAMINASE; CD45RO ANTIGEN; DNA CROSS LINK REPAIR 1C; IMMUNOGLOBULIN E; INTERLEUKIN 2 RECEPTOR GAMMA; INTERLEUKIN 7 RECEPTOR; JANUS KINASE 3; PROTEIN; PROTEIN CD3D; PROTEIN CD3Z; RAG1 PROTEIN; RAG2 PROTEIN; UNCLASSIFIED DRUG;

ADENOSINE DEAMINASE DEFICIENCY; ARTICLE; BONE MARROW BIOPSY; CD3+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; DISEASE CLASSIFICATION; ENGRAFTMENT; ENZYME REPLACEMENT; EOSINOPHILIA; GENE THERAPY; GENETIC DISORDER; GENOTYPE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEPATOSPLENOMEGALY; HETEROZYGOTE; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; INFANT; LYMPHADENOPATHY; LYMPHOCYTE COUNT; LYMPHOCYTE PROLIFERATION; MAJOR CLINICAL STUDY; OBSERVATIONAL STUDY; OMENN SYNDROME; PATIENT CARE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; RASH; RETROSPECTIVE STUDY; SEVERE COMBINED IMMUNODEFICIENCY;

ALLOGENEIC HEMATOPOIETIC CELL TRANSPLANTATION; CLINICAL TRIAL; GENE THERAPY; PRIMARY IMMUNODEFICIENCY;

HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; NORTH AMERICA; PRACTICE GUIDELINES AS TOPIC; RETROSPECTIVE STUDIES; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84897417058     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.09.044     Document Type: Article

References (43)

1. L.M. Griffith, M.J. Cowan, D.B. Kohn, L.D. Notarangelo, J.M. Puck, and K.R. Schultz et al. Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs J Allergy Clin Immunol 122 2008 1087 1096
2. L.M. Griffith, M.J. Cowan, L.D. Notarangelo, J.M. Puck, R.H. Buckley, and F. Candotti et al. Improving cellular therapy for primary immune deficiency diseases - recognition, diagnosis and management J Allergy Clin Immunol 124 2009 1152 1160
3. L.M. Griffith, M.J. Cowan, L.D. Notarangelo, D.B. Kohn, J.M. Puck, and S.Y. Pai et al. Primary Immune Deficiency Treatment Consortium (PIDTC) report J Allergy Clin Immunol 2013 Epub ahead of print Oct 15, 2013
4. R.H. Buckley Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: long term outcomes Immunol Res 49 2011 25 43
5. T.N. Small, W. Friedrich, and R.J. O'Reilly Hematopoietic cell transplantation for immunodeficiency diseases F.R. Appelbaum, S.J. Forman, K.G. Blume, Thomas' hematopoietic cell transplantation 4th ed. 2009 Blackwell Science Malden (MA) 1105 1124
6. J.L. Stephan, V. Vlekova, F. Le Deist, S. Blanche, J. Donadieu, and G. De Saint-Basile et al. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients J Pediatr 123 1993 564 572
7. L.D. Notarangelo, C. Forino, and E. Mazzolari Stem cell transplantation in primary immunodeficiencies Curr Opin Allergy Clin Immunol 6 2006 443 448
8. J.M. Puck, S.M. Deschenes, J.C. Porter, A.S. Dutra, C.J. Brown, and H.F. Willard et al. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1 Hum Mol Genet 2 1993 1099 1104
9. M. Noguchi, H. Yi, H.M. Rosenblatt, A.H. Filipovich, S. Adelstein, and W.S. Modi et al. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans Cell 73 1993 147 157
10. R. Hirschhorn, and F. Candotti Immunodeficiency diseases due to deficiency of adenosine deaminase H.D. Ochs, C.I.E. Smith, J.M. Puck, Primary immunodeficiency diseases: a molecular and genetic approach 2nd ed. 2007 Oxford University Press Oxford (UK) 169 196
11. C. Lagresle-Peyrou, E.M. Six, C. Picard, F. Rieux-Laucat, V. Michel, and A. Ditadi et al. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness Nat Genet 41 2009 106 111
12. J.L. Roberts, A. Lengi, S.M. Brown, M. Chen, Y.-J. Zhou, and J.J. O'Shea et al. Janus kinase 3 (JAK3) deficiency: clinical, immunologic and molecular analyses of 10 patients and outcomes of stem cell transplantation Blood 103 2004 2009 2018
13. A. Puel, S.F. Ziegler, R.H. Buckley, and W.J. Leonard Defective IL7R expression in T(-) B(+) NK(+) severe combined immunodeficiency Nat Genet 20 1998 394 397
14. K. Schwarz, G.H. Gauss, L. Ludwig, U. Pannicke, Z. Li, and D. Lindner et al. RAG mutations in human B cell-negative SCID Science 274 1996 97 99
15. C. Kung, J.T. Pingel, M. Heikinheimo, T. Klemola, K. Varkila, and L.I. Yoo et al. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease Nat Med 6 2000 343 345
16. E.Z. Tchilian, D.L. Wallace, R.S. Wells, D.R. Flower, G. Morgan, and P.C. Beverley A deletion in the gene encoding the CD45 antigen in a patient with SCID J Immunol 166 2001 1308 1313
17. D. Moshous, L. Li, R. Chasseval, N. Philippe, N. Jabado, and M.J. Cowan et al. A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p Hum Mol Genet 9 2000 583 588
18. D. Buck, D. Moshous, R. de Chasseval, Y. Ma, F. le Deist, and M. Cavazzana-Calvo et al. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV Eur J Immunol 36 2006 224 235
19. P. Ahnesorg, P. Smith, and S.P. Jackson XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining Cell 124 2006 301 313
20. D. Buck, L. Malivert, R. deChasseval, A. Barraud, M.-C. Fondaneche, and O. Sanal et al. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly Cell 124 2006 287 299
21. M. van der Burg, H. Ijspeert, N.S. Verkaik, T. Turul, W.W. Wiegant, and K. Morotomi-Yano 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
22. H.K. Dadi, A.J. Simon, and C.M. Roifman Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency N Engl J Med 349 2003 1821 1828
23. G. de Saint Basile, F. Geissmann, E. Flori, B. Uring-Lambert, C. Soudais, and M. Cavazzana-Calvo et al. Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3 J Clin Invest 114 2004 1512 1517
24. J.L. Roberts, J.P.H. Lauritsen, M. Cooney, R.E. Parrott, E.O. Sajaroff, and C.M. Win et al. T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3 zeta subunit of the T cell antigen receptor complex Blood 109 2007 3198 3206
25. J. Chinen, J. Davis, S.S. De Ravin, B.N. Hay, A.P. Hsu, and G.F. Linton et al. Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency Blood 110 2007 67 73
26. R.M. Blaese, K.W. Culver, A.D. Miller, C.S. Carter, T. Fleisher, and M. Clerici et al. T lymphocyte-directed gene therapy for ADA-SCID: initial trial results after 4 years Science 270 1995 475 480
27. C. Bordignon, L.D. Notarangelo, N. Nobili, G. Ferrari, G. Casorati, and P. Panina et al. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA-immunodeficient patients Science 270 1995 470 475
28. F. Candotti, K.L. Shaw, L. Muul, D. Carbonaro, R. Sokolic, and C. Choi et al. Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans Blood 120 2012 3635 3646
29. A. Aiuti, and M.G. Roncarolo Ten years of gene therapy for primary immune deficiencies Hematology Am Soc Hematol Educ Program 2009 682 689
30. H.B. Gaspar, A. Aiuti, F. Porta, F. Candotti, M.S. Hershfield, and L.D. Notarangelo How I treat ADA deficiency Blood 114 2009 3524 3532
31. J.S. Read The Committee on Pediatric AIDS. Diagnosis of HIV-1 infection in children younger than 18 months in the United States Pediatrics 120 2007 e1547 e1562
32. M.D. Railey, Y. Lokhnygina, and R.H. Buckley Long term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pre-transplant chemotherapy or post-transplant GVHD prophylaxis J Pediatr 155 2009 834 840
33. M. Sarzotti, D.D. Patel, X. Li, D.A. Ozaki, S. Cao, and S. Langdon et al. T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation J Immunol 170 2003 2711 2718
34. Y. Dror, R. Gallagher, D.W. Wara, B.W. Colombe, A. Merino, and M. Benkerrou et al. Immune reconstitution in severe combined immunodeficiency disease after lectin-treated, T cell depleted haplocompatible bone marrow transplantation Blood 81 1993 2021 2030
35. R.J. O'Reilly, C.A. Keever, T.N. Small, and J. Brochstein The use of HLA-non-identical T cell depleted marrow transplants for correction of severe combined immunodeficiency disease Immunodefic Rev 1 1989 273 309
36. C.C. Dvorak, G.-Y. Hung, B. Horn, E. Dunn, C.Y. Oon, and M.J. Cowan Megadose CD34+ cell grafts improve recovery of T cell engraftment but not B cell immunity in patients with severe combined immunodeficiency disease undergoing haplocompatible non-myeloablative transplantation Biol Blood Marrow Transplant 14 2008 1125 1133
37. N.C. Patel, J. Chinen, H.M. Rosenblatt, I.C. Hanson, R.A. Krance, and M.E. Paul et al. Outcomes of severe combined immunodeficiency patients treated with hematopoietic stem cell transplantation with and without pre-conditioning J Allergy Clin Immunol 124 2009 1062 1069
38. E. Grunebaum, E. Mazzolari, F. Porta, D. Dallera, A. Atkinson, and B. Reid et al. Bone marrow transplantation for severe combined immune deficiency JAMA 295 2006 508 518
39. C. Antoine, S. Muller, A. Cant, M. Cavazzana-Calvo, P. Veys, and J. Vossen et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99 Lancet 361 2003 553 560
40. E. Mazzolari, C. Forino, S. Guerci, L. Imberti, A. Lanfranchi, and F. Porta et al. Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency J Allergy Clin Immunol 120 2007 892 899
41. A.R. Gennery, M.A. Slatter, L. Grandin, P. Taupin, A.J. Cant, and P. Veys et al. Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol 126 2010 602 610 e1-11
42. A. Kwan, J.A. Church, M.J. Cowan, R. Agarwal, N. Kapoor, and D.B. Kohn et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years J Allergy Clin Immunol 132 2013 140 150
43. T.A. Manolio, R.L. Chisholm, B. Ozenberger, D.M. Roden, M.S. Williams, and R. Wilson et al. Implementing genomic medicine in the clinic: the future is here Genet Med 15 2013 258 267