Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36:1703–19.

Article  PubMed  PubMed Central  Google Scholar 

Arends CM, Galan-Sousa J, Hoyer K, Chan W, Jager M, Yoshida K, et al. Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis. Leukemia. 2018;32:1908–19.

Article  CAS  PubMed  Google Scholar 

Jaiswal S. Clonal hematopoiesis and nonhematologic disorders. Blood. 2020;136:1606–14.

PubMed  PubMed Central  Google Scholar 

Wolach O, Stone R. Autoimmunity and inflammation in myelodysplastic syndromes. Acta Haematol. 2016;136:108–17.

Article  CAS  PubMed  Google Scholar 

Wesner N, Drevon L, Guedon A, Fraison JB, Terrier B, Trad S, et al. Gastrointestinal Behcet’s-like disease with myelodysplastic neoplasms with trisomy 8: a French case series and literature review. Leuk Lymphoma. 2019;60:1782–8.

Article  CAS  PubMed  Google Scholar 

Hashimoto M, Itonaga H, Nannya Y, Taniguchi H, Fukuda Y, Furumoto T, et al. Secondary pulmonary alveolar proteinosis following treatment with azacitidine for myelodysplastic syndrome. Intern Med. 2020;59:1081–6.

Article  PubMed  Google Scholar 

Ishii H, Seymour JF, Tazawa R, Inoue Y, Uchida N, Nishida A, et al. Secondary pulmonary alveolar proteinosis complicating myelodysplastic syndrome results in worsening of prognosis: a retrospective cohort study in Japan. BMC Pulm Med. 2014;14:37.

Article  PubMed  PubMed Central  Google Scholar 

Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet. 2011;43:1012–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hsu AP, Johnson KD, Falcone EL, Sanalkumar R, Sanchez L, Hickstein DD, et al. GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. Blood. 2013;121(3830–7):S1-7.

Google Scholar 

Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123:809–21.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Handa T, Nakatsue T, Baba M, Takada T, Nakata K, Ishii H. Clinical features of three cases with pulmonary alveolar proteinosis secondary to myelodysplastic syndrome developed during the course of Behcet’s disease. Respir Investig. 2014;52:75–9.

Article  PubMed  Google Scholar 

Shimizu H, Sato S, Suzuki T, Sasajima T, Takahata Y, Shinohara N, et al. Intestinal Behcet’s disease complicated by myelodysplastic syndrome and secondary pulmonary alveolar proteinosis: a case report. BMC Gastroenterol. 2021;21:488.

Article  PubMed  PubMed Central  Google Scholar 

Casado LF, De la Camara R, Granados E, Giron R, Aspa J, Steegmann JL. Reconstitution of alveolar macrophages from donor marrow in allogeneic BMT; a study of variable number tandem repeat regions by PCR analysis of bronchoalveolar lavage specimens. Haematologica. 1999;84:187–9.

CAS  PubMed  Google Scholar 

Mekinian A, Zhao LP, Chevret S, Desseaux K, Pascal L, Comont T, et al. A phase II prospective trial of azacitidine in steroid-dependent or refractory systemic autoimmune/inflammatory disorders and VEXAS syndrome associated with MDS and CMML. Leukemia. 2022;36:2739–42.

Article  PubMed  Google Scholar 

Yilmaz U, Ar MC, Esatoglu SN, Bavunoglu I, Erzin YZ, Hatemi AI, et al. How to treat myelodysplastic syndrome with clinical features resembling Behcet syndrome: a case-based systematic review. Ann Hematol. 2020;99:1193–203.

Article  PubMed  Google Scholar 

Rodrigues NP, Janzen V, Forkert R, Dombkowski DM, Boyd AS, Orkin SH, et al. Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis. Blood. 2005;106:477–84.

Article  CAS  PubMed  Google Scholar 

Kotmayer L, Romero-Moya D, Marin-Bejar O, Kozyra E, Catala A, Bigas A, et al. GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects. Br J Haematol. 2022;199:482–95.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jorgensen SF, Buechner J, Myhre AE, Galteland E, Spetalen S, Kulseth MA, et al. A nationwide study of GATA2 deficiency in Norway-the majority of patients have undergone Allo-HSCT. J Clin Immunol. 2022;42:404–20.

Article  PubMed  Google Scholar 

Nichols-Vinueza DX, Parta M, Shah NN, Cuellar-Rodriguez JM, Bauer TR Jr, West RR, et al. Donor source and post-transplantation cyclophosphamide influence outcome in allogeneic stem cell transplantation for GATA2 deficiency. Br J Haematol. 2022;196:169–78.

Article  CAS  PubMed  Google Scholar 

Grossman J, Cuellar-Rodriguez J, Gea-Banacloche J, Zerbe C, Calvo K, Hughes T, et al. Nonmyeloablative allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. Biol Blood Marrow Transplant. 2014;20:1940–8.

Article  PubMed  PubMed Central  Google Scholar 

Tholouli E, Sturgess K, Dickinson RE, Gennery A, Cant AJ, Jackson G, et al. In vivo T-depleted reduced-intensity transplantation for GATA2-related immune dysfunction. Blood. 2018;131:1383–7.

Article  CAS  PubMed  PubMed Central  Google Scholar