Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation von Moriya, Kunihiko, Suzuki, Tasuku, Uchida, Nao, Nakano, Tomohiro, Katayama, Saori, Irie, Masahiro, Rikiishi, Takeshi, Niizuma, Hidetaka, Okada, Satoshi, Imai, Kohsuke, Sasahara, Yoji, Kure, Shigeo

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A partial form of inherited human USP18 deficiency underlies infection and inflammation von Martin-Fernandez, Marta, Buta, Sofija, Le Voyer, Tom, Li, Zhi, Dynesen, Lasse Toftdal, Vuillier, Françoise, Franklin, Lina, Ailal, Fatima, Muglia Amancio, Alice, Malle, Louise, Gruber, Conor, Benhsaien, Ibtihal, Altman, Jennie, Taft, Justin, Deswarte, Caroline, Roynard, Manon, Nieto-Patlan, Alejandro, Moriya, Kunihiko, Rosain, Jérémie, Boddaert, Nathalie, Bousfiha, Aziz, Crow, Yanick J, Jankovic, Dragana, Sher, Alan, Casanova, Jean-Laurent, Pellegrini, Sandra, Bustamante, Jacinta, Bogunovic, Dusan

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Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia–telangiectasia caused by novel compound heterozygous variants in ATM von Sato, Daichi, Moriya, Kunihiko, Nakano, Tomohiro, Miyagawa, Chihiro, Katayama, Saori, Niizuma, Hidetaka, Sasahara, Yoji, Kure, Shigeo

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A case of suspected lupus anticoagulant‐hypoprothrombinemia syndrome in a boy due to mycoplasma infection von Mabuchi, Haruna, Moriya, Kunihiko, Hoshino, Yuki, Take, Junya, Kawaguchi, Hiroyuki, Imai, Kohsuke

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The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation von Moriya, Kunihiko, Kadowaki, Saori, Nakano, Tomohiro, Akarcan, Sanem E., Kutukculer, Necil, Aksu, Guzide, Sasahara, Yoji, Kure, Shigeo, Ohnishi, Hidenori, Casanova, Jean-Laurent, Puel, Anne, Fukao, Toshiyuki

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Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome von Irie, Masahiro, Niihori, Tetsuya, Nakano, Tomohiro, Suzuki, Tasuku, Katayama, Saori, Moriya, Kunihiko, Niizuma, Hidetaka, Suzuki, Nobu, Saito-Nanjo, Yuka, Onuma, Masaei, Rikiishi, Takeshi, Sato, Atsushi, Hangai, Mayumi, Hiwatari, Mitsuteru, Ikeda, Junji, Tanoshima, Reo, Shiba, Norio, Yuza, Yuki, Yamamoto, Nobuyuki, Hashii, Yoshiko, Kato, Motohiro, Takita, Junko, Maeda, Miho, Aoki, Yoko, Imaizumi, Masue, Sasahara, Yoji

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IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation von Nishimura, Shiho, Kobayashi, Yoshiyuki, Ohnishi, Hidenori, Moriya, Kunihiko, Tsumura, Miyuki, Sakata, Sonoko, Mizoguchi, Yoko, Takada, Hidetoshi, Kato, Zenichiro, Sancho-Shimizu, Vanessa, Picard, Capucine, Irani, Sarosh R., Ohara, Osamu, Casanova, Jean-Laurent, Puel, Anne, Ishikawa, Nobutsune, Okada, Satoshi, Kobayashi, Masao

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Outcomes following induction failure in Japanese children with acute lymphoblastic leukemia von Imai, Chihaya, Sato, Atsushi, Hiwatari, Mitsuteru, Shimomura, Yasuto, Hori, Toshinori, Suenobu, Souichi, Imamura, Toshihiko, Hara, Junichi, Hasegawa, Daisuke, Takahashi, Hiroyuki, Moriya, Kunihiko, Katayama, Saori, Tomizawa, Daisuke, Moritake, Hiroshi, Taga, Takashi, Horibe, Keizo, Koh, Katsuyoshi, Manabe, Atsushi, Okamoto, Yasuhiro

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Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan von Moriya, Kunihiko, Mitsui-Sekinaka, Kanako, Sekinaka, Yujin, Endo, Akifumi, Kanegane, Hirokazu, Morio, Tomohiro, Imai, Kohsuke, Nonoyama, Shigeaki

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Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants von Totsune, Eriko, Nakano, Tomohiro, Moriya, Kunihiko, Sato, Daichi, Suzuki, Dai, Miura, Akinobu, Katayama, Saori, Niizuma, Hidetaka, Kanno, Junko, van Zelm, Menno C, Imai, Kohsuke, Kanegane, Hirokazu, Sasahara, Yoji, Kure, Shigeo

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Case report: Cerebellar swelling and hydrocephalus in familial hemophagocytic lymphohistiocytosis von Yoshida, Taro, Moriya, Kunihiko, Oikawa, Keisuke, Miura, Shoko, Asakura, Yoshiko, Tanifuji, Sachiko, Kusano, Shuji, Endo, Mikiya, Akasaka, Manami

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Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation von Moriya, Kunihiko, Kadowaki, Saori, Nakano, Tomohiro, Akarcan, Sanem E., Kutukculer, Necil, Aksu, Guzide, Sasahara, Yoji, Kure, Shigeo, Ohnishi, Hidenori, Casanova, Jean-Laurent, Puel, Anne, Fukao, Toshiyuki

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Mesenchymal chondrosarcoma diagnosed on FISH for HEY1‐NCOA2 fusion gene von Moriya, Kunihiko, Katayama, Saori, Onuma, Masaei, Rikiishi, Takeshi, Hosaka, Masami, Watanabe, Mika, Hasegawa, Tadashi, Sasahara, Yoji, Kure, Shigeo

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Successful treatment of ETV6‐NTRK3 fusion gene‐negative infantile fibrosarcoma with metastatic lesion resistant to VAC chemotherapy von Moriya, Kunihiko, Abe, Sei, Onuma, Masaei, Sato, Atsushi, Takeyama, Junji, Hosaka, Masami, Sasahara, Yoji, Imaizumi, Masue

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IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome von Moriya, Kunihiko, Kaneko, Mika K., Liu, Xing, Hosaka, Masami, Fujishima, Fumiyoshi, Sakuma, Jun, Ogasawara, Satoshi, Watanabe, Mika, Sasahara, Yoji, Kure, Shigeo, Kato, Yukinari

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Clofarabine monotherapy in two patients with refractory Langerhans cell histiocytosis von Irie, Masahiro, Nakano, Tomohiro, Katayama, Saori, Suzuki, Tasuku, Moriya, Kunihiko, Watanabe, Yuko, Suzuki, Nobu, Saitoh‐Nanjyo, Yuka, Onuma, Masaei, Rikiishi, Takeshi, Niizuma, Hidetaka, Sasahara, Yoji, Kure, Shigeo

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Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities von Watanabe, Yuko, Shido, Kosuke, Niihori, Tetsuya, Niizuma, Hidetaka, Katata, Yu, Iizuka, Chie, Oba, Daiju, Moriya, Kunihiko, Saito-Nanjo, Yuka, Onuma, Masaei, Rikiishi, Takeshi, Sasahara, Yoji, Watanabe, Mika, Aiba, Setsuya, Saito, Ryuta, Sonoda, Yukihiko, Tominaga, Teiji, Aoki, Yoko, Kure, Shigeo

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Severe disease and greater impairment of NF-κB activation in IκBa point mutants versus truncation mutants in autosomal dominant anhidrotic ectodermal dysplasia with immune deficien... von Petersheim, Daniel, MD, Massaad, Michel J., PhD, Lee, Saetbyul, PhD, Scarselli, Alessia, MD, Cancrini, Caterina, MD, Moriya, Kunihiko, MD, PhD, Sasahara, Yoji, MD, PhD, Lankester, Arjan C., MD, PhD, Dorsey, Morna, MD, Di Giovanni, Daniela, MD, Bezrodnik, Liliana, MD, Ohnishi, Hidenori, MD, PhD, Nishikomori, Ryuta, MD, Tanita, Kay, MD, Kanegane, Hirokazu, MD, PhD, Morio, Tomohiro, MD, Gelfand, Erwin W., MD, Jain, Ashish, MD, Secord, Elizabeth, MD, PhD, Picard, Capucine, MD, PhD, Casanova, Jean-Laurent, MD, PhD, Albert, Michael H., MD, Torgerson, Troy R., MD, PhD, Geha, Raif S., MD

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Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy von Aksu, Guzide, Migaud, Melanie, Karaca, Neslihan, Moriya, Kunihiko, Akarcan, Sanem, Puel, Anne, Kutukculer, Necil, Casanova, Jean-Laurent

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Development of a multi-step leukemogenesis model of MLL-rearranged leukemia using humanized mice von Moriya, Kunihiko, Suzuki, Makiko, Watanabe, Yohei, Takahashi, Takeshi, Aoki, Yoko, Uchiyama, Toru, Kumaki, Satoru, Sasahara, Yoji, Minegishi, Masayoshi, Kure, Shigeo, Tsuchiya, Shigeru, Sugamura, Kazuo, Ishii, Naoto

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