Faculty Profiles - MURAMATSU, Hideki

Papers - MURAMATSU, Hideki

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Dyskeratosis Congenita Complicated by Pulmonary Fibrosis and Myelodysplastic Syndrome with a Germline Mutation of the DKC1 Gene and a Somatic Mutation of the U2AF1 Gene in Leukocytes. Reviewed Open Access

Watanabe H, Takahashi Y, Namiki T, Nakagawa R, Inui T, Ishikawa H, Wakamatsu M, Muramatsu H, Sakamoto T

Internal medicine (Tokyo, Japan) 2025.4

Plasma Proteomic Profiles of Pediatric Patients With Human Herpesvirus 6B Encephalitis Following Umbilical Cord Blood Transplantation Reviewed

Kazunori Haruta, Yuto Fukuda, Hisateru Yamaguchi, Yoshiki Kawamura, Takako Suzuki, Yuka Torii, Atsushi Narita, Hideki Muramatsu, Hiroyuki Kidokoro, Jun Natsume, Yoshiyuki Takahashi, Tetsushi Yoshikawa, Jun‐ichi Kawada

Journal of Medical Virology Vol. 97 ( 3 ) page： e70311 2025.3

Language：English Publishing type：Research paper (scientific journal) Publisher：Wiley

ABSTRACT

Human herpesvirus 6B (HHV‐6B) encephalitis is a rare but severe complication of hematopoietic cell transplantation. This study investigated the pathogenesis of HHV‐6B encephalitis by comparing plasma proteomic profiles of four pediatric patients with HHV‐6B encephalitis to three with asymptomatic HHV‐6B reactivation following umbilical cord blood transplantation (UCBT). Plasma proteomic profiling was conducted using liquid chromatography‐mass spectrometry. Overall, 260 proteins were identified and quantified in plasma samples. At the onset of HHV‐6B encephalitis and asymptomatic reactivation, 20 and 24 proteins, respectively, were significantly upregulated compared to their respective pre‐onset levels. Of these, 11 proteins were uniquely upregulated in HHV‐6B encephalitis. S100‐A9 and S100‐A8 were the most and second‐most upregulated proteins in HHV‐6B encephalitis, respectively. Elevated plasma S100A8/A9 heterodimer levels were confirmed via enzyme‐linked immunosorbent assay in three of the four patients with HHV‐6B encephalitis. Pathway analysis identified neutrophil degranulation as the most enriched category among upregulated proteins in HHV‐6B encephalitis. Additionally, proteins related to the protein‐lipid complex remodeling pathway were more prominently upregulated in HHV‐6B encephalitis than in asymptomatic reactivation. Proteomic analysis revealed distinct plasma protein profiles between HHV‐6B encephalitis and asymptomatic HHV‐6B reactivation in pediatric UCBT recipients. The inflammatory response mediated by S100A8/A9 proteins may play a critical role in the pathogenesis of HHV‐6B encephalitis. These findings indicate that proteomic analysis may provide novel insights into the host response to HHV‐6B reactivation and the subsequent development of HHV‐6B encephalitis.

DOI： 10.1002/jmv.70311

PubMed

Acute Liver Failure in a 17-Year-Old Boy Caused by a Blastic Plasmacytoid Dendritic Cell Neoplasm With a Novel MYB Rearrangement. Reviewed

Kohso A, Toyoda H, Morimoto M, Niwa K, Ito T, Hanaki R, Sakazaki T, Okumura Y, Deguchi T, Shimokariya Y, Muramatsu S, Hirokawa Y, Muramatsu H, Hirayama M

Pediatric blood & cancer Vol. 72 ( 3 ) page： e31542 2025.3

Increased response to granulocyte-macrophage colony-stimulating factor in peripheral blood cells and transient manifestations mimicking juvenile myelomonocytic leukemia in a male patient with NEMO deficiency caused by a deep intronic pathogenic variant of IKBKG. Reviewed Open Access

Ueki M, Hirabayashi S, Honda Y, Takezaki S, Ohata H, Abdrabou SSMA, Sawai S, Terashita Y, Cho Y, Muramatsu H, Izawa K, Yasumi T, Takahashi Y, Yamada M, Manabe A

Immunological medicine Vol. 48 ( 1 ) page： 94 - 101 2025.3

Successful Treatment with Sirolimus of a Patient with a Novel CARD11 Germline Mutation in B-Cell Expansion with Nuclear Factor Kappa B and T-Cell Anergy: Case Report and Literature Review. Reviewed Open Access

Nishinosono T, Muramatsu H, Wakamatsu M, Yamashita D, Fukasawa T, Shirakawa Y, Sajiki D, Maemura R, Tsumura Y, Yamamori A, Narita K, Kataoka S, Narita A, Nishio N, Miyajima Y, Takahashi Y

Journal of clinical immunology Vol. 45 ( 1 ) page： 78 2025.2

Growth retardation and adult height in pediatric patients with chronic-phase chronic myeloid leukemia treated with tyrosine kinase inhibitors. Reviewed

Shima H, Tono C, Tanizawa A, Ito M, Watanabe A, Yuza Y, Hamamoto K, Muramatsu H, Okada M, Saito S, Goto H, Imamura M, Saito AM, Adachi S, Ishii E, Shimada H

Leukemia Vol. 39 ( 2 ) page： 508 - 511 2025.2

Cord Blood Transplantation Using Myeloablative Conditioning for Pediatric Advanced Myelodysplastic Syndrome in AMeD Syndrome With a Novel ADH5 Variant. Reviewed

Morishita Y, Hamada M, Uemura S, Kikuchi H, Hisakawa H, Fujikawa T, Tamura A, Okuno Y, Wakamatsu M, Muramatsu H, Takahashi Y, Hasegawa D, Kosaka Y

Pediatric blood & cancer Vol. 72 ( 2 ) page： e31465 2025.2

Prolonged Severe CD4+ Lymphocytopenia and Hypogammaglobulinemia in Patients With Evans' Syndrome: A Case Report. Reviewed Open Access

Kurokawa T, Imoto N, Muramatsu H, Shingo K

Cureus Vol. 16 ( 12 ) page： e75283 2024.12

Clinical features of immature leukemias in children. Reviewed

Sajiki D, Yoshida N, Muramatsu H, Sakaguchi K, Maeda N, Yokoyama N, Miyajima Y, Tanaka M, Takahashi Y, Hama A

International journal of hematology Vol. 120 ( 1 ) page： 117 - 127 2024.7

Integrated proteogenomic analysis for inherited bone marrow failure syndrome. Reviewed International journal Open Access

Manabu Wakamatsu, Hideki Muramatsu, Hironori Sato, Masaki Ishikawa, Ryo Konno, Daisuke Nakajima, Motoharu Hamada, Yusuke Okuno, Yusuke Kawashima, Asahito Hama, Masafumi Ito, Hideto Iwafuchi, Yoshiyuki Takahashi, Osamu Ohara

Leukemia Vol. 38 ( 6 ) page： 1256 - 1265 2024.5

Language：English Publishing type：Research paper (scientific journal)

Recent advances in in-depth data-independent acquisition proteomic analysis have enabled comprehensive quantitative analysis of >10,000 proteins. Herein, an integrated proteogenomic analysis for inherited bone marrow failure syndrome (IBMFS) was performed to reveal their biological features and to develop a proteomic-based diagnostic assay in the discovery cohort; dyskeratosis congenita (n = 12), Fanconi anemia (n = 11), Diamond-Blackfan anemia (DBA, n = 9), Shwachman-Diamond syndrome (SDS, n = 6), ADH5/ALDH2 deficiency (n = 4), and other IBMFS (n = 18). Unsupervised proteomic clustering identified eight independent clusters (C1-C8), with the ribosomal pathway specifically downregulated in C1 and C2, enriched for DBA and SDS, respectively. Six patients with SDS had significantly decreased SBDS protein expression, with two of these not diagnosed by DNA sequencing alone. Four patients with ADH5/ALDH2 deficiency showed significantly reduced ADH5 protein expression. To perform a large-scale rapid IBMFS screening, targeted proteomic analysis was performed on 417 samples from patients with IBMFS-related hematological disorders (n = 390) and healthy controls (n = 27). SBDS and ADH5 protein expressions were significantly reduced in SDS and ADH5/ALDH2 deficiency, respectively. The clinical application of this first integrated proteogenomic analysis would be useful for the diagnosis and screening of IBMFS, where appropriate clinical screening tests are lacking.

DOI： 10.1038/s41375-024-02263-1

Open Access

PubMed

Scoring system for diagnosis and pretreatment risk assessment of neuroblastoma using urinary biomarker combinations. Reviewed International journal Open Access

Hizuru Amano, Hiroo Uchida, Kazuharu Harada, Atsushi Narita, Shigehisa Fumino, Yuji Yamada, Shun Kumano, Mayumi Abe, Takashi Ishigaki, Minoru Sakairi, Chiyoe Shirota, Takahisa Tainaka, Wataru Sumida, Kazuki Yokota, Satoshi Makita, Shuhei Karakawa, Yuichi Mitani, Shojiro Matsumoto, Yutaka Tomioka, Hideki Muramatsu, Nobuhiro Nishio, Tsuyoshi Osawa, Masataka Taguri, Katsuyoshi Koh, Tatsuro Tajiri, Motohiro Kato, Kimikazu Matsumoto, Yoshiyuki Takahashi, Akinari Hinoki

Cancer science Vol. 115 ( 5 ) page： 1634 - 1645 2024.5

Language：English Publishing type：Research paper (scientific journal)

The urinary catecholamine metabolites, homovanillic acid (HVA) and vanillylmandelic acid (VMA), are used for the adjunctive diagnosis of neuroblastomas. We aimed to develop a scoring system for the diagnosis and pretreatment risk assessment of neuroblastoma, incorporating age and other urinary catecholamine metabolite combinations. Urine samples from 227 controls (227 samples) and 68 patients with neuroblastoma (228 samples) were evaluated. First, the catecholamine metabolites vanillactic acid (VLA) and 3-methoxytyramine sulfate (MTS) were identified as urinary marker candidates through comprehensive analysis using liquid chromatography-mass spectrometry. The concentrations of these marker candidates and conventional markers were then compared among controls, patients, and numerous risk groups to develop a scoring system. Participants were classified into four groups: control, low risk, intermediate risk, and high risk, and the proportional odds model was fitted using the L2-penalized maximum likelihood method, incorporating age on a monthly scale for adjustment. This scoring model using the novel urine catecholamine metabolite combinations, VLA and MTS, had greater area under the curve values than the model using HVA and VMA for diagnosis (0.978 vs. 0.964), pretreatment risk assessment (low and intermediate risk vs. high risk: 0.866 vs. 0.724; low risk vs. intermediate and high risk: 0.871 vs. 0.680), and prognostic factors (MYCN status: 0.741 vs. 0.369, histology: 0.932 vs. 0.747). The new system also had greater accuracy in detecting missing high-risk neuroblastomas, and in predicting the pretreatment risk at the time of screening. The new scoring system employing VLA and MTS has the potential to replace the conventional adjunctive diagnostic method using HVA and VMA.

DOI： 10.1111/cas.16116

Open Access

PubMed

Comparison of Whole Blood and Plasma for Monitoring Cytomegalovirus and Epstein-Barr Virus. Reviewed Open Access

Fukuda Y, Torii Y, Iwata KI, Haruta K, Yamaguchi M, Suzuki T, Narita A, Muramatsu H, Ogura Y, Takahashi Y, Ito Y, Kawada JI

The new microbiologica Vol. 47 ( 1 ) page： 52 - 59 2024.5

Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis Reviewed

Takako Suzuki, Yoshitaka Sato, Yusuke Okuno, Yuka Torii, Yuto Fukuda, Kazunori Haruta, Makoto Yamaguchi, Yoshiki Kawamura, Asahito Hama, Atsushi Narita, Hideki Muramatsu, Tetsushi Yoshikawa, Yoshiyuki Takahashi, Hiroshi Kimura, Yoshinori Ito, Jun-ichi Kawada

Journal of Clinical Immunology Vol. 44 ( 4 ) page： 103 2024.4

Nanopore sequencing in distinguishing between wild-type and vaccine strains of Varicella-Zoster virus. Reviewed International journal

Yuto Fukuda, Takako Suzuki, Ken-Ichi Iwata, Kazunori Haruta, Makoto Yamaguchi, Yuka Torii, Atsushi Narita, Hideki Muramatsu, Yoshiyuki Takahashi, Jun-Ichi Kawada

Vaccine Vol. 42 ( 11 ) page： 2927 - 2932 2024.3

Language：English Publishing type：Research paper (scientific journal)

BACKGROUND: The introduction of varicella vaccines into routine pediatric immunization programs has led to a considerable reduction in varicella incidence. However, there have been reports of varicella, herpes zoster, and meningitis caused by the vaccine strain of varicella-zoster virus (VZV), raising concerns. Establishing the relationship between the wild-type and vaccine strains in VZV infections among previously vaccinated individuals is crucial. Differences in the single nucleotide polymorphisms (SNPs) among vaccine strains can be utilized to identify the strain. In this study, we employed nanopore sequencing to identify VZV strains and analyzed clinical samples. METHODS: We retrospectively examined vesicle and cerebrospinal fluid samples from patients with VZV infections. One sample each of the wild-type and vaccine strains, previously identified using allelic discrimination real-time PCR and direct sequencing, served as controls. Ten samples with undetermined VZV strains were included. After DNA extraction, a long PCR targeting the VZV ORF62 region was executed. Nanopore sequencing identified SNPs, allowing discrimination between the vaccine and wild-type strains. RESULTS: Nanopore sequencing confirmed SNPs at previously reported sites (105,705, 106,262, 107,136, and 107,252), aiding in distinguishing between wild-type and vaccine strains. Among the ten unknown samples, nine were characterized as wild strains and one as a vaccine strain. Even in samples with low VZV DNA levels, nanopore sequencing was effective in strain identification. CONCLUSION: This study validates that nanopore sequencing is a reliable method for differentiating between the wild-type and vaccine strains of VZV. Its ability to produce long-read sequences is remarkable, allowing simultaneous confirmation of known SNPs and the detection of new mutations. Nanopore sequencing can serve as a valuable tool for the swift and precise identification of wild-type and vaccine strains and has potential applications in future VZV surveillance.

DOI： 10.1016/j.vaccine.2024.03.046

PubMed

Novel mutation in KIF23 causing congenital dyserythropoietic anemia type III in patients who underwent allogeneic hematopoietic stem cell transplantation Reviewed

Tomoko Fujikawa, Suguru Uemura, Daiichiro Hasegawa, Naoya Morisada, Sayaka Nakamura, Aiko Kozaki, Atsuro Saito, Kenji Kishimoto, Toshiaki Ishida, Takeshi Mori, Kimikazu Yakushijin, Yoshio Katayama, Daiki Yamashita, Manabu Wakamatsu, Motoharu Hamada, Hideki Muramatsu, Yoshiyuki Takahashi, Yoshiyuki Kosaka

Pediatric Blood & Cancer Vol. 71 ( 6 ) page： e30736 2024.3

Landscape of driver mutations and their clinical effects on Down syndrome-related myeloid neoplasms. Reviewed

Sato T, Yoshida K, Toki T, Kanezaki R, Terui K, Saiki R, Ojima M, Ochi Y, Mizuno S, Yoshihara M, Uechi T, Kenmochi N, Tanaka S, Matsubayashi J, Kisai K, Kudo K, Yuzawa K, Takahashi Y, Tanaka T, Yamamoto Y, Kobayashi A, Kamio T, Sasaki S, Shiraishi Y, Chiba K, Tanaka H, Muramatsu H, Hama A, Hasegawa D, Sato A, Koh K, Karakawa S, Kobayashi M, Hara J, Taneyama Y, Imai C, Hasegawa D, Fujita N, Yoshitomi M, Iwamoto S, Yamato G, Saida S, Kiyokawa N, Deguchi T, Ito M, Matsuo H, Adachi S Prof, Hayashi Y, Taga T, Moriya Saito A, Horibe K, Watanabe K, Tomizawa D, Miyano S, Takahashi S, Ogawa S, Ito E

Blood 2024.3

Pharmacokinetics, safety, and efficacy of 20% subcutaneous immunoglobulin (Ig20Gly) administered weekly or every 2 weeks in Japanese patients with primary immunodeficiency diseases: a phase 3, open-label study Reviewed

Hirokazu Kanegane, Akifumi Endo, Satoshi Okada, Hidenori Ohnishi, Masataka Ishimura, Ryuta Nishikomori, Kohsuke Imai, Shigeaki Nonoyama, Hideki Muramatsu, Taizo Wada, Atsushi Kuga, Ko Sakamoto, Sharon Russo-Schwarzbaum, Liang-Hui Chu, Barbara McCoy, Zhaoyang Li, Leman Yel

Immunotherapy Advances 2024.3

A retrospective analysis of gene fusions and treatment outcomes in pediatric acute megakaryoblastic leukemia without Down syndrome. Reviewed International journal Open Access

Kyogo Suzuki, Asahito Hama, Yusuke Okuno, Yinyan Xu, Atsushi Narita, Nao Yoshida, Hideki Muramatsu, Nobuhiro Nishio, Koji Kato, Seiji Kojima, Keon Hee Yoo, Yoshiyuki Takahashi

Haematologica Vol. 109 ( 6 ) page： 1936 - 1940 2024.2

Myeloproliferative disorder in a patient with RIT1-associated Noonan syndrome: Case report and literature review. Reviewed

Suzuki K, Wakamatsu M, Ito Y, Ishikawa M, Shimotakahara A, Futagawa H, Yamamoto Y, Nagamine H, Saito O, Muramatsu H, Yuza Y

Pediatric blood & cancer Vol. 71 ( 2 ) page： e30780 2024.2

Allogeneic Hematopoietic Cell Transplantation for Juvenile Myelomonocytic Leukemia with a Busulfan, Fludarabine, and Melphalan Regimen: JPLSG JMML-11. Reviewed International journal Open Access

Kazuo Sakashita, Nao Yoshida, Hideki Muramatsu, Yoshitoshi Ohtsuka, Kenichiro Watanabe, Miharu Yabe, Harumi Kakuda, Yuko Honda, Tomoyuki Watanabe, Masami Haba, Shigeru Ohmori, Kazuyuki Matsuda, Yuki Yuza, Akiko Saito, Keizo Horibe, Souichi Adachi, Atsushi Manabe

Transplantation and cellular therapy Vol. 30 ( 1 ) page： 105.e1-105.e10 - 105.e10 2024.1

Language：English Publishing type：Research paper (scientific journal)

Juvenile myelomonocytic leukemia (JMML), which is classified as a myelodysplastic/myeloproliferative neoplasm, is a rare hematologic malignancy of childhood. Most patients with JMML require allogeneic hematopoietic cell transplantation (HCT) as a curative therapy. A Japanese retrospective analysis demonstrated favorable outcomes for a busulfan (BU) + fludarabine (FLU) + melphalan (MEL) regimen, with an overall survival (OS) of 72% and an event-free survival (EFS) of 53%. To further validate the efficacy and safety of this regimen, the Japan Pediatric Leukemia/Lymphoma Study Group (JPLSG) conducted a nationwide prospective study, JMML-11. Between July 2011 and June 2017, 28 patients with newly diagnosed JMML were enrolled in JMML11. Low-dose chemotherapy for tumor control before HCT was recommended, and patients treated with AML-type chemotherapy and azacitidine were excluded. The conditioning regimen comprised i.v. BU, 16 doses administered every 6 h, with dose adjustment based on pharmacokinetic (PK) studies on days -11 to -8; FLU, 30 mg/m2/day or 1 mg/kg/day for patients <10 kg or age <1 year on days -7 to -4; and MEL, 90 mg/m2/day or 3 mg/kg/day for patients <10 kg or <1 year on days -3 to -2. The donor was selected by the physician in charge. A family donor was available for 7 patients (3 HLA-matched siblings, 3 HLA-1-antigen mismatched parents, and 1 haploidentical father). Overall, 21 patients received grafts from unrelated donors, including 8 HLA-matched donors and 13 HLA-mismatched donors. The graft source was related bone marrow (BM) for 7 patients, unrelated BM for 14 patients, and unrelated cord blood for 7 patients. Neutrophil engraftment was achieved in 21 of 28 patients (75%), with a median of 20.5 days (range, 11 to 39 days) after transplantation. The 3-year OS, 3-year EFS, 3-year relapse rate, and 3-year transplantation-related mortality were 63% (95% confidence interval [CI], 42% to 78%), 52% (95% CI, 32% to 69%), 18% (95% CI, 6% to 34%), and 21% (95% CI, 9% to 38%), respectively. WBC count before the conditioning regimen (≥7.0 × 109/L) was significantly associated with inferior EFS and OS. Body surface area ≥.5 m2, spleen size <4 cm before conditioning, and HLA-matched unrelated BM donors were significantly associated with better OS. Adverse effects related to the conditioning regimen included febrile neutropenia (86%), diarrhea (39%), hypoxemia (21%), and mucositis (18%). BU-associated toxicity, including sinusoidal obstruction syndrome (SOS) and thrombotic microangiopathy (TMA), occurred in 7 patients (25%; SOS, n = 6; TMA, n = 2). Retrospective analysis of PK data after the first BU dose in 23 patients, including 6 with SOS and 17 without SOS, did not show significant differences between groups. The JMML-11 study confirms the positive results of previous retrospective analyses. BU+FLU+MEL might become a standard conditioning regimen for patients with JMML.

DOI： 10.1016/j.jtct.2023.10.002

Open Access

PubMed

Two cases of AMeD syndrome with isochromosome 1q treated with allogeneic stem cell transplantation. Reviewed Open Access

Kagajo M, Moritani K, Iwamoto M, Miyamoto M, Imai T, Hamada M, Wakamatsu M, Muramatsu H, Eguchi-Ishimae M, Eguchi M

Leukemia research reports Vol. 22 page： 100476 2024

Risk factors of bloodstream infection after allogeneic hematopoietic cell transplantation in children/adolescent and young adults. Reviewed Open Access

Sajiki D, Muramatsu H, Wakamatsu M, Yamashita D, Maemura R, Tsumura Y, Imaya M, Yamamori A, Narita K, Kataoka S, Taniguchi R, Narita A, Nishio N, Takahashi Y

PloS one Vol. 19 ( 8 ) page： e0308395 2024

Noonan Syndrome-related Myeloproliferative Disorder Occurring in the Neonatal Period: Case Report and Literature Review. Reviewed International journal

Yuki Hoshino, Kunihiko Moriya, Kanako Mitsui-Sekinaka, Yu Hashimoto, Satoshi Nakayama, Daichi Sajiki, Hideki Muramatsu, Hidetoshi Hagiwara, Shuichi Suzuki, Yujin Sekinaka, Hajime Wakamatsu, Hiroyuki Kawaguchi, Kohsuke Imai

Journal of pediatric hematology/oncology 2023.12

Language：English Publishing type：Research paper (scientific journal)

Noonan syndrome-related myeloproliferative disorder (NS/MPD) and juvenile myelomonocytic leukemia (JMML) are rare MPDs that occur in young children. We herein report a case of NS/MPD with neonatal onset. The patient had a characteristic appearance and high monocyte count in the peripheral blood and bone marrow. Genetic testing showed the E139D mutation in PTPN11; however, the patient did not meet all the diagnostic criteria for JMML, and we thus diagnosed him with NS/MPD. Eight other cases of NS/MPD with neonatal onset are also summarized. The initial presentation varied, and the prognosis was considered poor compared with previous reports of NS/MPD.

DOI： 10.1097/MPH.0000000000002803

PubMed

A Japanese retrospective study of non-tuberculous mycobacterial infection in children, adolescents, and young adult patients with hematologic-oncologic diseases. Reviewed International journal

Yusuke Tsumura, Hideki Muramatsu, Nobuyuki Tetsuka, Takahiro Imaizumi, Kikue Sato, Kento Inoue, Yoshitomo Motomura, Yuko Cho, Daiki Yamashita, Daichi Sajiki, Ryo Maemura, Ayako Yamamori, Masayuki Imaya, Manabu Wakamatsu, Kotaro Narita, Shinsuke Kataoka, Motoharu Hamada, Rieko Taniguchi, Eri Nishikawa, Atsushi Narita, Nobuhiro Nishio, Seiji Kojima, Yoshihiko Hoshino, Yoshiyuki Takahashi

Haematologica 2023.10

Language：English Publishing type：Research paper (scientific journal)

Non-tuberculous mycobacterial infection (NTM) is rare in healthy children, with lymphadenitis being the most common presentation. Immunocompromised populations are known to be at high risk, but the clinical picture of NTM infection in pediatric hematology/oncology patients is unclear. In this nationwide retrospective analysis of patients under the age of 40 treated in Japanese pediatric hematology/oncology departments who developed NTM infection between January 2010 and December 2020, 36 patients (21 patients with hematopoietic stem cell transplantation (HSCT) and 15 nontransplant patients) were identified. Post-transplant patients were infected with NTM at 24 sites, including the lungs (n = 12), skin and soft tissues (n = 6), bloodstream (n = 4), and others (n = 2). Nine of twelve patients with pulmonary NTM infection had a history of pulmonary graft-versus-host disease (GVHD), and rapid-growing mycobacteria (RGM) were isolated from five of them. In nontransplant patients, the primary diseases were acute lymphoblastic leukemia (ALL; n = 5), inborn errors of immunity (IEI; n = 6), and others (n = 4). All cases of ALL had bloodstream infections with RGM, whereas all cases of IEI were infected with slow-growing mycobacteria (SGM). In summary, three typical clinical scenarios for pediatric hematology/oncology patients have been established: RGM-induced pulmonary disease in patients with pulmonary GVHD, RGM bloodstream infection in patients with ALL, and SGM infection in patients with IEI. Our findings suggest that NTM must be regarded as a pathogen for infections in these high-risk patients, especially those with pulmonary GVHD, who may require active screening for NTM.

DOI： 10.3324/haematol.2023.283636

PubMed

Severe β-thalassemia (Hb Zunyi) mimicking congenital dyserythropoietic anemia. Reviewed International journal

Jun Nagahama, Takuro Nishikawa, Tatsuro Nakamura, Shunsuke Nakagawa, Yuichi Kodama, Hideyuki Terazono, Manabu Wakamatsu, Hideki Muramatsu, Yasuhiro Yamashiro, Hitoshi Kanno, Yasuhiro Okamoto

Pediatric blood & cancer Vol. 70 ( 12 ) page： e30706 2023.10

Successful treatment of DOCK8 deficiency by allogeneic hematopoietic cell transplantation from alternative donors Reviewed

Kono A., Wakamatsu M., Umezawa Y., Muramatsu H., Fujiwara H., Tomomasa D., Inoue K., Hattori K., Mitsui T., Takada H., Minegishi Y., Takahashi Y., Yamamoto M., Mori T., Kanegane H.

International Journal of Hematology Vol. 118 ( 4 ) page： 519 - 525 2023.10

Publisher：International Journal of Hematology

Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive inborn error of immunity (IEI) characterized by eczematous dermatitis, elevated serum IgE, and recurrent infections, comprising a seemingly hyper-IgE syndrome (HIES). DOCK8 deficiency is only curable with allogeneic hematopoietic cell transplantation (HCT), but the outcome of HCT from alternative donors is not fully understood. Here, we describe the cases of two Japanese patients with DOCK8 deficiency who were successfully treated by allogeneic HCT from alternative donors. Patient 1 underwent cord blood transplantation at the age of 16 years, and Patient 2 underwent haploidentical peripheral blood stem cell transplantation with post-transplant cyclophosphamide at the age of 22 years. Each patient received a fludarabine-based conditioning regimen. Their clinical manifestations, including refractory molluscum contagiosum, promptly improved post-HCT. They achieved successful engraftment and immune reconstitution without serious complications. Alternative donor sources such as cord blood and haploidentical donors can be options for allogeneic HCT for DOCK8 deficiency.

<MURAMATSU, Hideki>

Papers - MURAMATSU, Hideki