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Utility of Next Generation Sequencing in Clinical Primary Immunodeficiencies

  • Pediatric Allergy and Immunology (JM Portnoy and CE Ciaccio, Section Editors)
  • Published:
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Abstract

Primary immunodeficiencies (PIDs) are a group of genetically heterogeneous disorders that present with very similar symptoms, complicating definitive diagnosis. More than 240 genes have hitherto been associated with PIDs, of which more than 30 have been identified in the last 3 years. Next generation sequencing (NGS) of genomes or exomes of informative families has played a central role in the discovery of novel PID genes. Furthermore, NGS has the potential to transform clinical molecular testing for established PIDs, allowing all PID differential diagnoses to be tested at once, leading to increased diagnostic yield, while decreasing both the time and cost of obtaining a molecular diagnosis. Given that treatment of PID varies by disease gene, early achievement of a molecular diagnosis is likely to enhance treatment decisions and improve patient outcomes.

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References

Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

  1. Bonilla FA, Bernstein IL, Khan DA, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol. 2005;94(5 Suppl 1):S1–S63.

    Article  PubMed  Google Scholar 

  2. Dotta L, Parolini S, Prandini A, et al. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis. 2013;8:168.

    Article  PubMed Central  PubMed  Google Scholar 

  3. Subbarayan A, Colarusso G, Hughes SM, et al. Clinical features that identify children with primary immunodeficiency diseases. Pediatrics. 2011;127(5):810–6.

    Article  PubMed  Google Scholar 

  4. Fudenberg H, Good RA, Goodman HC, et al. Primary immunodeficiencies. Rep of a World Health Organ Comm Pediatr. 1971;47(5):927–46.

    CAS  Google Scholar 

  5. Chapel H, Geha R, Rosen F, et al. Primary immunodeficiency diseases: an update. Clin Exp Immunol. 2003;132(1):9–15.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  6. Casanova JL, Abel L. Primary immunodeficiencies: a field in its infancy. Science. 2007;317(5838):617–9.

    Article  CAS  PubMed  Google Scholar 

  7. Chapel H, Lucas M, Lee M, et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood. 2008;112(2):277–86.

    Article  CAS  PubMed  Google Scholar 

  8. Elenitoba-Johnson KS, Jaffe ES. Lymphoproliferative disorders associated with congenital immunodeficiencies. Semin Diagn Pathol. 1997;14(1):35–47.

    CAS  PubMed  Google Scholar 

  9. Ardeniz O, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Clin Immunol. 2009;133(2):198–207.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  10. Arnold DF, Wiggins J, Cunningham-Rundles C, et al. Granulomatous disease: distinguishing primary antibody disease from sarcoidosis. Clin Immunol. 2008;128(1):18–22.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  11. Yong PF, Freeman AF, Engelhardt KR, et al. An update on the hyper-IgE syndromes. Arthritis Res & Ther. 2012;14(6):228.

    Article  Google Scholar 

  12. Gathmann B, Mahlaoui N, for C, et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014.

  13. Xiao X, Miao Q, Chang C, et al. Common variable immunodeficiency and autoimmunity—an inconvenient truth. Autoimmun Rev. 2014;13(8):858–64.

    Article  CAS  PubMed  Google Scholar 

  14. Ombrello MJ, Remmers EF, Sun G, et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med. 2012;366(4):330–8.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  15. Zhou Q, Lee GS, Brady J, et al. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet. 2012;91(4):713–20.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  16. Dvorak CC, Sandford A, Fong A, et al. Maternal T-cell engraftment associated with severe hemophagocytosis of the bone marrow in untreated X-linked severe combined immunodeficiency. J Pediatr Hematol Oncol. 2008;30(5):396–400.

    Article  PubMed  Google Scholar 

  17. Parekh C, Hofstra T, Church JA, et al. Hemophagocytic lymphohistiocytosis in children with chronic granulomatous disease. Pediatr Blood Cancer. 2011;56(3):460–2.

    Article  PubMed  Google Scholar 

  18. Kawai T, Nishikomori R, Heike T. Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency. Allergol Int. 2012;61(2):207–17.

    CAS  PubMed  Google Scholar 

  19. Temmerman ST, Ma CA, Zhao Y, et al. Defective nuclear IKKalpha function in patients with ectodermal dysplasia with immune deficiency. J Clin Invest. 2012;122(1):315–26.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  20. Doffinger R, Smahi A, Bessia C, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet. 2001;27(3):277–85.

    Article  CAS  PubMed  Google Scholar 

  21. Jain A, Ma CA, Liu S, et al. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol. 2001;2(3):223–8.

    Article  CAS  PubMed  Google Scholar 

  22. Mansour S, Woffendin H, Mitton S, et al. Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Am J Med Genet. 2001;99(2):172–7.

    Article  CAS  PubMed  Google Scholar 

  23. Al-Herz W, Bousfiha A, Casanova JL, et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for primary immunodeficiency. Frontiers Immunol. 2014;5:162. This paper provides the most updated classification of primary immunodeficiencies.

    Article  Google Scholar 

  24. Lim MS, Elenitoba-Johnson KS. The molecular pathology of primary immunodeficiencies. J Mole Diagn : JMD. 2004;6(2):59–83.

    Article  CAS  Google Scholar 

  25. Tangsinmankong N, Bahna SL, Good RA. The immunologic workup of the child suspected of immunodeficiency. Ann Allergy Asthma Immunol. 2001;87(5):362–9. quiz 70, 423.

    Article  CAS  PubMed  Google Scholar 

  26. Ochs HD, Hagin D. Primary immunodeficiency disorders: general classification, new molecular insights, and practical approach to diagnosis and treatment. Ann Allergy Asthma Immunol. 2014;112(6):489–95. This paper discusses the most recently discovered primary immunodeficiencies and a clinical approach to their diagnosis.

    Article  PubMed  Google Scholar 

  27. Jolles S. The variable in common variable immunodeficiency: a disease of complex phenotypes. The J Allergy and Clin Immunol Pract. 2013;1(6):545–56.

    Article  Google Scholar 

  28. Cunningham-Rundles C. The many faces of common variable immunodeficiency. Hematol / Educ Program Am Soc Hematol Am Soc Hematol Educ Program. 2012;2012:301–5.

    Google Scholar 

  29. Coffey AJ, Brooksbank RA, Brandau O, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet. 1998;20(2):129–35.

    Article  CAS  PubMed  Google Scholar 

  30. Huck K, Feyen O, Niehues T, et al. Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. J Clin Invest. 2009;119(5):1350–8.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  31. Nichols KE, Harkin DP, Levitz S, et al. Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A. 1998;95(23):13765–70.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  32. Rigaud S, Fondaneche MC, Lambert N, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006;444(7115):110–4.

    Article  CAS  PubMed  Google Scholar 

  33. de Jong R, Altare F, Haagen IA, et al. Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science. 1998;280(5368):1435–8.

    Article  PubMed  Google Scholar 

  34. Chou J, Ohsumi TK, Geha RS. Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies. Curr Opin Allergy Clin Immunol. 2012;12(6):623–8. This paper provides a rational step-wise genomic approach for discovery of genes related to primary immunodeficiencies.

    Article  CAS  PubMed  Google Scholar 

  35. Nijman IJ, van Montfrans JM, Hoogstraat M, et al. Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies. J Allergy Clin Immunol. 2014;133(2):529–34. This study demonstrates the use of next generation sequencing in complex immunodeficiency patients that can lead to their molecular diagnosis.

    Article  CAS  PubMed  Google Scholar 

  36. Platt C, Geha RS, Chou J. Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2013. PubMed PMID: 24100122. PubMed Central PMCID: 3976463. This paper discusses the challenges in various approaches to molecular diagnosis of primary immunodeficiencies and the methods to overcome them.

  37. Al-Herz W, Bousfiha A, Casanova J-L, et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for primary immunodeficiency. Frontiers in immunology. 2011;2.

  38. Parvaneh N, Casanova J-L, Notarangelo LD, et al. Primary immunodeficiencies: a rapidly evolving story. J Allergy Clin Immunol. 2013;131(2):314–23.

    Article  PubMed  Google Scholar 

  39. Bilgüvar K, Öztürk AK, Louvi A, et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature. 2010;467(7312):207–10.

    Article  PubMed Central  PubMed  Google Scholar 

  40. Choi M, Scholl UI, Ji W, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci. 2009;106(45):19096–101.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  41. Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat Genet. 2010;42(1):30–5.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  42. Bell CJ, Dinwiddie DL, Miller NA, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011;3(65):65ra4.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  43. Saunders CJ, Miller NA, Soden SE, et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Science translational medicine. 2012;4(154):154ra35. This study describes the technique of rapid genome sequencing for molecular diagnosis in neonates in intensive care units.

    Article  Google Scholar 

  44. Metzker ML. Sequencing technologies—the next generation. Nat Rev Genet. 2010;11(1):31–46.

    Article  CAS  PubMed  Google Scholar 

  45. Mardis ER. Next-generation DNA, sequencing methods. Annu Rev Genomics Hum Genet. 2008;9:387–402.

    Article  CAS  PubMed  Google Scholar 

  46. Higgins AW, Alkuraya FS, Bosco AF, et al. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet. 2008;82(3):712–22.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  47. Mamanova L, Coffey AJ, Scott CE, et al. Target-enrichment strategies for next-generation sequencing. Nat Methods. 2010;7(2):111–8.

    Article  CAS  PubMed  Google Scholar 

  48. Dinwiddie DL, Saunders CJ, Farrow EG, et al. Structured genome-scale variant and clinical data reporting for meta-analysis in an era of genomic medicine. J Genomes and Exomes. 2013;2(3619-JGE-Structured-Genome-Scale-Variant-and-Clinical-Data-Reporting-for-Meta-2.pdf):31–42. English.

  49. Kingsmore SF, Dinwiddie DL, Miller NA, et al. Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing. Expert Rev Mol Diagn. 2011;11(8):855–68.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  50. Kingsmore SF, Saunders CJ. Deep sequencing of patient genomes for disease diagnosis: when will it become routine. Sci Transl Med. 2011;3(87):87ps23.

    Article  PubMed  Google Scholar 

  51. Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet. 2013;14(4):295–300.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  52. Burke W, Matheny Antommaria AH, Bennett R, et al. Recommendations for returning genomic incidental findings? We need to talk! Genet Med. 2013.

  53. Wolf SM. Return of individual research results and incidental findings: facing the challenges of translational science. Annu Rev Genomics Hum Genet. 2013;14:557–77.

    Article  CAS  PubMed  Google Scholar 

  54. Wolf SM, Annas GJ, Elias S. Point-counterpoint. Patient autonomy and incidental findings in clinical genomics. Science. 2013;340(6136):1049–50.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  55. Christenhusz GM, Devriendt K, Dierickx K. To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts. Eur J Hum Genet. 2013;21(3):248–55.

    Article  PubMed Central  PubMed  Google Scholar 

  56. Rosenblatt DS. Who’s on first in exome and whole genome sequencing? Is it the patient or the incidental findings? Mole Gene Metab. 2013;110(1–2):1–2.

    Article  CAS  Google Scholar 

  57. Allyse M, Michie M. Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing. Trends Biotechnol. 2013;31(8):439–41.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  58. Kingsmore SF. Incidental swimming with millstones. Sci Transl Med. 2013;5(194):194ed10.

    Article  PubMed  Google Scholar 

  59. Biesecker LG. Secondary variants and human subjects research. Genet Med. 2013;15(2):157.

    Article  PubMed  Google Scholar 

  60. Biesecker L. A health professional-centered approach to incidental findings. Hum Mutat. 2013; 34(10):v.

  61. Green RC, Lupski JR, Biesecker LG. Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA :J Am Med Assoc. 2013;310(4):365–6.

    Article  CAS  Google Scholar 

  62. McGuire AL, Joffe S, Koenig BA, et al. Point-counterpoint. Ethics and Genomic Incidental Findings Sci. 2013;340(6136):1047–8.

    CAS  Google Scholar 

  63. Biesecker LG. Incidental variants are critical for genomics. Am J Hum Genet. 2013;92(5):648–51.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  64. van de Vosse E, Haverkamp MH, Ramirez-Alejo N, et al. IL-12Rbeta1 deficiency: mutation update and description of the IL12RB1 variation database. Hum Mutat. 2013;34(10):1329–39.

    Article  PubMed  Google Scholar 

  65. Cleary AM, Tu W, Enright A, et al. Impaired accumulation and function of memory CD4 T cells in human IL-12 receptor beta 1 deficiency. J Immunol. 2003;170(1):597–603.

    Article  CAS  PubMed  Google Scholar 

  66. Rabbani B, Mahdieh N, Hosomichi K, et al. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders. J Hum Genet. 2012;57(10):621–32.

    Article  CAS  PubMed  Google Scholar 

  67. Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease. Annu Rev Med. 2012;63:35–61.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  68. Gilissen C, Hoischen A, Brunner HG, et al. Disease gene identification strategies for exome sequencing. Eur J Hum Genet. 2012;20(5):490–7.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  69. Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med. 2013;369(16):1502–11.

    Article  CAS  PubMed  Google Scholar 

  70. Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 2012;90(6):986–1001.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  71. Alangari A, Alsultan A, Adly N, et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immunol. 2012;130(2):481–8 e2.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  72. Badolato R, Prandini A, Caracciolo S, et al. Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. Blood. 2012;119(13):3185–7.

    Article  CAS  PubMed  Google Scholar 

  73. Cullinane AR, Curry JA, Carmona-Rivera C, et al. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9. Am J Hum Genet. 2011;88(6):778–87.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  74. Salzer E, Daschkey S, Choo S, et al. Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. Haematologica. 2013;98(3):473–8.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  75. van Montfrans JM, Hoepelman AI, Otto S, et al. CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. J Allergy Clin Immunol. 2012;129(3):787–93 e6.

    Article  PubMed Central  PubMed  Google Scholar 

  76. Zhang Y, Yu X, Ichikawa M, et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol. 2014;133(5):1400–9. 9 e1-5.

    Article  CAS  PubMed  Google Scholar 

  77. Conley ME, Dobbs AK, Quintana AM, et al. Agammaglobulinemia and absent B lineage cells in a patient lacking the p85alpha subunit of PI3K. J Exp Med. 2012;209(3):463–70.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  78. Greil J, Rausch T, Giese T, et al. Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency. J Allergy Clin Immunol. 2013;131(5):1376–83 e3.

    Article  CAS  PubMed  Google Scholar 

  79. Hara H, Wada T, Bakal C, et al. The MAGUK family protein CARD11 is essential for lymphocyte activation. Immunity. 2003;18(6):763–75.

    Article  CAS  PubMed  Google Scholar 

  80. Samuels ME, Majewski J, Alirezaie N, et al. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet. 2013;50(5):324–9.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  81. Chen R, Giliani S, Lanzi G, et al. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol. 2013;132(3):656–64 e17.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  82. Salzer E, Santos-Valente E, Klaver S, et al. B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C delta. Blood. 2013;121(16):3112–6.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  83. Kuehn HS, Niemela JE, Rangel-Santos A, et al. Loss-of-function of the protein kinase C delta (PKCdelta) causes a B-cell lymphoproliferative syndrome in humans. Blood. 2013;121(16):3117–25.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  84. Byun M, Abhyankar A, Lelarge V, et al. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med. 2010;207(11):2307–12.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  85. Handsaker RE, Korn JM, Nemesh J, et al. Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat Genet. 2011;43(3):269–76.

    Article  CAS  PubMed  Google Scholar 

  86. Jabara HH, Ohsumi T, Chou J, et al. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J Allergy Clin Immunol. 2013;132(1):151–8.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  87. Dinwiddie DL, Kingsmore SF, Caracciolo S, et al. Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections. J Allergy Clin Immunol. 2013;131(2):594–7 e1-3.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  88. Dinwiddie DL, Bracken JM, Bass JA, et al. Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing. Genomics. 2013;102(5–6):442–7.

    Article  CAS  PubMed  Google Scholar 

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Acknowledgments

The project was supported in part by the National Center for Research Resources and the National Center for Advancing Translational Sciences of the National Institutes of Health through Grant Number KL2 TR000089 to Darrell L. Dinwiddie, PhD. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.

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Conflict of Interest

Nikita Raje, Sarah Soden, Christina E. Ciaccio, and Stephen F. Kingsmore declare no conflict of interest. Douglas Swanson declares grants from Pfizer, Inc., outside the submitted work.

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This article does not contain any studies with human or animal subjects performed by any authors.

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Authors and Affiliations

  1. Children’s Mercy Hospital, 2401 Gillham Road, Kansas City, MO, 64108, USA

    Nikita Raje, Sarah Soden, Douglas Swanson, Christina E. Ciaccio & Stephen F. Kingsmore

  2. University of Missouri—Kansas City, Kansas City, MO, USA

    Nikita Raje, Sarah Soden, Douglas Swanson, Christina E. Ciaccio & Stephen F. Kingsmore

  3. Department of Pediatrics and Clinical Translational Science Center, University of New Mexico Health Sciences Center, 1 University of New Mexico, MSC08 4635, Albuquerque, NM, 87131, USA

    Darrell L. Dinwiddie

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  1. Nikita Raje
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  2. Sarah Soden
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  4. Christina E. Ciaccio
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Correspondence to Nikita Raje.

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This article is part of the Topical Collection on Pediatric Allergy and Immunology

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Raje, N., Soden, S., Swanson, D. et al. Utility of Next Generation Sequencing in Clinical Primary Immunodeficiencies. Curr Allergy Asthma Rep 14, 468 (2014). https://doi.org/10.1007/s11882-014-0468-y

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