Letter to the editorApplication of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies
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Cited by (8)
Advances in basic and clinical immunology in 2016
2017, Journal of Allergy and Clinical ImmunologyCitation Excerpt :The authors highlight the utility of targeted sequencing platforms in the setting of a positive family history because newborn screening results might be noninformative for severe PIDs with normal T-cell numbers. Kojima et al33 studied 97 patients using a broader NGS panel, including 286 genes associated with PIDs, 42 genetic causes of congenital bone marrow failure syndromes, and the 47 genes within the 22q11.2 region coupled with CNV detection. The cost of this panel was $500 per sample.
Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome
2016, Journal of Allergy and Clinical ImmunologyTREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan
2022, Journal of Clinical ImmunologyNext-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives
2021, Clinical Reviews in Allergy and ImmunologyComprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea
2020, Journal of Pediatric Gastroenterology and Nutrition
Supported by the “Research on Measures for Intractable Diseases” project from the Ministry of Health, Labour and Welfare; Grants-in-Aid from the Ministry of Health, Labor and Welfare of Japan (H26-TA042); and the Practical Research Project for Allergic Diseases and Immunology (Research on Technology of Medical Transplantation) from the Japan Agency for Medical Research and Development (15ek0510006s0302).
Disclosure of potential conflict of interest: D. Kojima, H. Muramatsu, Y. Okuno, N. Nishio, Y. Takahashi, and S. Kojima receive research support from the Ministry of Health, Labour and Welfare; Grants-in-Aid from the Ministry of Health, Labor and Welfare of Japan; and the Japan Agency for Medical Research and Development. The rest of the authors declare that they have no relevant conflicts of interest.
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These authors contributed equally to this work.