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Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle.
Göschl L, Winkler S, Dmytrus J, Heredia RJ, Lagler H, Ramharter M, Scheinecker C, Bonelli M, Schmetterer K, Pickl WF, Grabmeier-Pfistershammer K, Hershfield MS, Boztug K, Förster-Waldl E, Gualdoni GA. Göschl L, et al. Among authors: hershfield ms. J Clin Immunol. 2020 Jan;40(1):223-226. doi: 10.1007/s10875-019-00700-w. Epub 2019 Nov 4. J Clin Immunol. 2020. PMID: 31686313 No abstract available.
ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.
Cagdas D, Gur Cetinkaya P, Karaatmaca B, Esenboga S, Tan C, Yılmaz T, Gümüş E, Barış S, Kuşkonmaz B, Ozgur TT, Bali P, Santisteban I, Orhan D, Yüce A, Cetinkaya D, Boztug K, Hershfield M, Sanal O, Tezcan İ. Cagdas D, et al. J Clin Immunol. 2018 May;38(4):484-493. doi: 10.1007/s10875-018-0496-9. Epub 2018 May 9. J Clin Immunol. 2018. PMID: 29744787
Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency.
Chong-Neto HJ, Segundo GRS, Bandeira M, Chong-Silva DC, Rosário CS, Riedi CA, Hershfield MS, Ochs H, Torgerson T, Rosário NA. Chong-Neto HJ, et al. Among authors: hershfield ms. J Clin Immunol. 2019 Nov;39(8):842-845. doi: 10.1007/s10875-019-00697-2. Epub 2019 Oct 15. J Clin Immunol. 2019. PMID: 31617030 No abstract available.
Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.
Lee PY, Huang Y, Zhou Q, Schnappauf O, Hershfield MS, Li Y, Ganson NJ, Sampaio Moura N, Delmonte OM, Stone SS, Rivkin MJ, Pai SY, Lyons T, Sundel RP, Hsu VW, Notarangelo LD, Aksentijevich I, Nigrovic PA. Lee PY, et al. Among authors: hershfield ms. J Allergy Clin Immunol. 2018 Oct;142(4):1363-1365.e8. doi: 10.1016/j.jaci.2018.05.038. Epub 2018 Jun 21. J Allergy Clin Immunol. 2018. PMID: 29936104 Free PMC article.
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
Hashem H, Bucciol G, Ozen S, Unal S, Bozkaya IO, Akarsu N, Taskinen M, Koskenvuo M, Saarela J, Dimitrova D, Hickstein DD, Hsu AP, Holland SM, Krance R, Sasa G, Kumar AR, Müller I, de Sousa MA, Delafontaine S, Moens L, Babor F, Barzaghi F, Cicalese MP, Bredius R, van Montfrans J, Baretta V, Cesaro S, Stepensky P, Benedicte N, Moshous D, Le Guenno G, Boutboul D, Dalal J, Brooks JP, Dokmeci E, Dara J, Lucas CL, Hambleton S, Wilson K, Jolles S, Koc Y, Güngör T, Schnider C, Candotti F, Steinmann S, Schulz A, Chambers C, Hershfield M, Ombrello A, Kanakry JA, Meyts I. Hashem H, et al. J Clin Immunol. 2021 Oct;41(7):1633-1647. doi: 10.1007/s10875-021-01098-0. Epub 2021 Jul 29. J Clin Immunol. 2021. PMID: 34324127 Free PMC article.
ADA2 deficiency: Clonal lymphoproliferation in a subset of patients.
Trotta L, Martelius T, Siitonen T, Hautala T, Hämäläinen S, Juntti H, Taskinen M, Ilander M, Andersson EI, Zavialov A, Kaustio M, Keski-Filppula R, Hershfield M, Mustjoki S, Tapiainen T, Seppänen M, Saarela J. Trotta L, et al. J Allergy Clin Immunol. 2018 Apr;141(4):1534-1537.e8. doi: 10.1016/j.jaci.2018.01.012. Epub 2018 Jan 31. J Allergy Clin Immunol. 2018. PMID: 29391253 No abstract available.
Warts and DADA2: a Mere Coincidence?
Arts K, Bergerson JRE, Ombrello AK, Similuk M, Oler AJ, Agharahimi A, Mace EM, Hershfield M, Wouters C, De Somer L, Morren MA, Diego RP, Moens L, Freeman AF, Meyts I. Arts K, et al. J Clin Immunol. 2018 Nov;38(8):836-843. doi: 10.1007/s10875-018-0565-0. Epub 2018 Nov 1. J Clin Immunol. 2018. PMID: 30386947 No abstract available.
223 results