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276 results

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Page 1
Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.
Hashem H, Kumar AR, Müller I, Babor F, Bredius R, Dalal J, Hsu AP, Holland SM, Hickstein DD, Jolles S, Krance R, Sasa G, Taskinen M, Koskenvuo M, Saarela J, van Montfrans J, Wilson K, Bosch B, Moens L, Hershfield M, Meyts I; Deficiency of Adenosine Deaminase Type 2 Foundation. Hashem H, et al. Among authors: saarela j. Blood. 2017 Dec 14;130(24):2682-2688. doi: 10.1182/blood-2017-07-798660. Epub 2017 Oct 3. Blood. 2017. PMID: 28974505 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. Among authors: saarela j. 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.
Correction to: 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. Among authors: saarela j. J Clin Immunol. 2022 Oct;42(7):1580-1581. doi: 10.1007/s10875-022-01280-y. J Clin Immunol. 2022. PMID: 35499644 Free PMC article. No abstract available.
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. Among authors: saarela j. 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.
Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.
Trotta L, Norberg A, Taskinen M, Béziat V, Degerman S, Wartiovaara-Kautto U, Välimaa H, Jahnukainen K, Casanova JL, Seppänen M, Saarela J, Koskenvuo M, Martelius T. Trotta L, et al. Among authors: saarela j. Orphanet J Rare Dis. 2018 Aug 17;13(1):139. doi: 10.1186/s13023-018-0864-9. Orphanet J Rare Dis. 2018. PMID: 30115091 Free PMC article.
RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis.
Kalinichenko A, Perinetti Casoni G, Dupré L, Trotta L, Huemer J, Galgano D, German Y, Haladik B, Pazmandi J, Thian M, Yüce Petronczki Ö, Chiang SC, Taskinen M, Hekkala A, Kauppila S, Lindgren O, Tapiainen T, Kraakman MJ, Vettenranta K, Lomakin AJ, Saarela J, Seppänen MRJ, Bryceson YT, Boztug K. Kalinichenko A, et al. Among authors: saarela j. Blood. 2021 Apr 15;137(15):2033-2045. doi: 10.1182/blood.2020008738. Blood. 2021. PMID: 33513601 Free PMC article.
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.
Haapaniemi EM, Kaustio M, Rajala HL, van Adrichem AJ, Kainulainen L, Glumoff V, Doffinger R, Kuusanmäki H, Heiskanen-Kosma T, Trotta L, Chiang S, Kulmala P, Eldfors S, Katainen R, Siitonen S, Karjalainen-Lindsberg ML, Kovanen PE, Otonkoski T, Porkka K, Heiskanen K, Hänninen A, Bryceson YT, Uusitalo-Seppälä R, Saarela J, Seppänen M, Mustjoki S, Kere J. Haapaniemi EM, et al. Among authors: saarela j. Blood. 2015 Jan 22;125(4):639-48. doi: 10.1182/blood-2014-04-570101. Epub 2014 Oct 27. Blood. 2015. PMID: 25349174 Free PMC article. Clinical Trial.
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.
Dobbs K, Domínguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Çiftçi E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskoloğlu Ş, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, İkincioğulları A, Al-Herz W, Helminen M, Doğu F, Casanova JL, Boztuğ K, Notarangelo LD. Dobbs K, et al. Among authors: saarela j. N Engl J Med. 2015 Jun 18;372(25):2409-22. doi: 10.1056/NEJMoa1413462. N Engl J Med. 2015. PMID: 26083206 Free PMC article.
276 results