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References
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Acknowledgements
We would like to thank Michael Hershfield, MD, Duke University Medical Center, for his kind assistance in the evaluation ADA2 levels; the Cincinnati Children’s Hospital Medical Center Cancer and Blood Diseases Institute—Diagnostic Immunology Lab for the evaluation of ALPs phenotype; and Dr. Hane Lee and Dr. Stan Nelson at the UCLA Clinical Genomics Center for assistance in genetic diagnosis. We would like to thank Dr. Gavin Roach for his care of this patient.
Members of Boston Children’s DADA2 Consortium:
Pui Y. Lee2
Liang Chen2
2Division of Immunology, Boston Children’s Hospital, Harvard Medical School
Members of UCLA DADA2 Consortium:
Samira Nazzar-Romero3
Alexis V. Stephens4
Deborah K. McCurdy4
Maria I. Garcia-Lloret4
3Department of Rheumatology, Nemours Children’s Hospital, University of Central Florida
4Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, University of California, Los Angeles, 10833 Le Conte Avenue, 12-430 MDCC, Los Angeles, CA 90095
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Patient care was provided by LAK, TSA, SN-R, DKM, and MIGL. Patient diagnosis was provided by LAK, DKM, and MIGL. Material preparation, data collection, and analysis were performed by LAK, TSA, and AVS. Experimental data design, collection, and analysis were performed by PYL and LC. Additional expert advice was provided by PYL. The first and final draft of the manuscript was written by LAL and TSA, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.
All coauthors have reviewed the manuscript and have contributed in a substantive and intellectual manner to the work described.
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Ahn, T.S., Boston Children’s DADA2 Consortium., UCLA DADA2 Consortium. et al. Whole Exome Sequencing Reveals Pathogenic Variants in ADA2 and FAS Causing DADA2 and ALPS. J Clin Immunol 43, 1147–1151 (2023). https://doi.org/10.1007/s10875-023-01484-w
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DOI: https://doi.org/10.1007/s10875-023-01484-w