Hematology Am Soc Hematol Educ Program. 2004:318-36. doi: 10.1182/asheducation-2004.1.318.
PMID:15561690
Single Large-Scale Mitochondrial DNA Deletion Syndromes.
Goldstein A, Falk MJ.
2003 Dec 17 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301382
Deficiency of Adenosine Deaminase 2: Clinical Manifestations, Diagnosis, and Treatment.
Grim A, Veiga KR, Saad N.
Rheum Dis Clin North Am. 2023 Nov;49(4):773-787. doi: 10.1016/j.rdc.2023.06.004. Epub 2023 Aug 1.
PMID:37821195
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Aluri J, Bach A, Kaviany S, Chiquetto Paracatu L, Kitcharoensakkul M, Walkiewicz MA, Putnam CD, Shinawi M, Saucier N, Rizzi EM, Harmon MT, Keppel MP, Ritter M, Similuk M, Kulm E, Joyce M, de Jesus AA, Goldbach-Mansky R, Lee YS, Cella M, Kendall PL, Dinauer MC, Bednarski JJ, Bemrich-Stolz C, Canna SW, Abraham SM, Demczko MM, Powell J, Jones SM, Scurlock AM, De Ravin SS, Bleesing JJ, Connelly JA, Rao VK, Schuettpelz LG, Cooper MA.
Blood. 2021 May 6;137(18):2450-2462. doi: 10.1182/blood.2020009620.
PMID:33512449
Efficacy of tocilizumab therapy in a patient with severe pancytopenia associated with a STAT3 gain-of-function mutation.
Wang W, Liu L, Hui X, Wang Y, Ying W, Zhou Q, Hou J, Yang M, Sun B, Sun J, Wang X.
BMC Immunol. 2021 Mar 17;22(1):19. doi: 10.1186/s12865-021-00411-1.
PMID:33731004
Eltrombopag in combination with immunosuppressive therapy in pediatric severe aplastic anemia: phase 2 ESCALATE trial.
Shimamura A, Maschan A, Bennett C, Samarasinghe S, Farrar JE, Li CK, Sirachainan N, Pongtanakul B, Komvilaisak P, Zubarovskaya L, Rothman JA, Walkovich K, Nakano TA, Bertuch AA, Ferrao A, Bhat R, Hanna R, Overholt K, Boklan J, Wong TF, Wang Q, Urban P, Strahm B, Wang W, Vlachos A, Williams DA.
Blood Adv. 2025 Aug 12;9(15):3728-3738. doi: 10.1182/bloodadvances.2024015102.