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Functional characterization of Griscelli syndrome type 2 sine albinism in Japanese patients

Tatsuhiko Tanaka, Akira Sugawara, Ryuhei Yasuoka, Kimiyoshi Sakaguchi, Osamu Natsume, Kentaro Haga, Yuto Maruta, Akie Kobayashi, Tomohiko Sato, Erina Saito, Satoko Minakawa, Yuiko Hirata, Hirofumi Shibata, Takahiro Yasumi, Masaki Shimizu, Hirokazu Kanegane, Ko Kudo, Mitsunori Fukuda, Kiminori Teui

J Hum Immun (2026) 2 (4): e20250270.

https://doi.org/10.70962/jhi.20250270

Published: 07 May 2026

View article titled, Functional characterization of Griscelli syndrome type 2 sine albinism in Japanese patients

Includes: Supplementary data

Journal Articles

Interim Safety and Efficacy Outcomes of an Open-Label Long-Term Extension Study of Treatment with PI3Kδ Inhibitor Leniolisib in Pediatric Patients Aged 4-11 Years with Activated PI3Kδ Syndrome (APDS)

V. Koneti Rao, Manish J. Butte, Bénédicte Neven, Michaela Semeraro, Yael Gernez, Shanmuganathan Chandrakasan, Hirokazu Kanegane, Takahiro Yasumi, Kazushi Izawa, Alanvin Orpia, Ladan Foruraghi, Lauren Pauls, Lavenda Chirombo Kluczynski, Jason Bradt, Leisa Waynick, Anurag Relan, Gulbu Uzel

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.217.

https://doi.org/10.70962/CIS2026abstract.217

Published: 01 May 2026

View article titled, Interim Safety and Efficacy Outcomes of an Open-Label Long-Term Extension Study of Treatment with PI3Kδ Inhibitor Leniolisib in Pediatric Patients Aged 4-11 Years with Activated PI3Kδ Syndrome (APDS)

Includes: Supplementary data

Journal Articles

CTLA-4 Variant Interpretation and Clinical Impact

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.135.

https://doi.org/10.70962/CIS2026abstract.135

Published: 01 May 2026

View article titled, CTLA-4 Variant Interpretation and Clinical Impact

Journal Articles

Polyclonal evolution of lymphoproliferative disorders in XLP1

Dan Tomomasa, Akira Nishimura, Kenichi Yoshida, Yui Namikawa, Doo Ri Kim, Naoki Sakata, Kenichi Sakamoto, Takashi Taga, Yuta Sakai, Yasuhiro Ikawa, Toshiaki Ishida, Areum Shin, Keon Hee Yoo, Yae-Jean Kim, Seishi Ogawa, Akihiro Hoshino, Tomohiro Morio, Masatoshi Takagi, Hirokazu Kanegane

J Hum Immun (2026) 2 (3): e20250202.

https://doi.org/10.70962/jhi.20250202

Published: 12 March 2026

View article titled, Polyclonal evolution of lymphoproliferative disorders in XLP1

Journal Articles

X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening

Yusuke Imanaka, Takaki Asano, Kosuke Noma, Fumiaki Sakura, Norifumi Nishioka, Yoko Mizoguchi, Takahiro Kamiya, Hirokazu Kanegane, Satoshi Okada

J Hum Immun (2025) 1 (3): e20250057.

https://doi.org/10.70962/jhi.20250057

Published: 14 July 2025

View article titled, X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening

Journal Articles

Healthcare resources for inborn errors of immunity in the Asia-Pacific region

J Hum Immun (2025) 1 (2): e20250023.

https://doi.org/10.70962/jhi.20250023

Published: 13 May 2025

View article titled, Healthcare resources for inborn errors of immunity in the Asia-Pacific region

Journal Articles

Revisiting X-linked agammaglobulinemia

Hirokazu Kanegane, Kay Tanita, Madoka Nishimura, Dan Tomomasa, Kento Inoue, Toru Kanamori, Akira Nishimura, Hans D. Ochs

J Hum Immun (2025) 1 (1): e20250020.

https://doi.org/10.70962/jhi.20250020

Published: 28 April 2025

View article titled, Revisiting X-linked agammaglobulinemia

Journal Articles

Primary and Safety Outcomes of a Phase 3 Open-Label, Single-Arm, 12-Week Study of Treatment with PI3Kδ Inhibitor Leniolisib in Pediatric Patients Aged 4–11 Years with Activated PI3Kδ Syndrome (APDS)

V. Rao, Manish J. Butte, Bénédicte Neven, Michaela Semeraro, Yael Gernez, Shanmuganathan Chandrakasan, Hirokazu Kanegane, Takahiro Yasumi, Kazushi Izawa, Alanvin Orpia, Ladan Foruraghi, Lauren Pauls, Lavenda Chirombo Kluczynski, Jason Bradt, Anurag Relan, Gulbu Uzel

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.6.

https://doi.org/10.70962/CIS2025abstract.6

Published: 25 April 2025

View article titled, Primary and Safety Outcomes of a Phase 3 Open-Label, Single-Arm, 12-Week Study of Treatment with PI3Kδ Inhibitor Leniolisib in Pediatric Patients Aged 4–11 Years with Activated PI3Kδ Syndrome (APDS)

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Functional characterization of Griscelli syndrome type 2 sine albinism in Japanese patients

Interim Safety and Efficacy Outcomes of an Open-Label Long-Term Extension Study of Treatment with PI3Kδ Inhibitor Leniolisib in Pediatric Patients Aged 4-11 Years with Activated PI3Kδ Syndrome (APDS)

CTLA-4 Variant Interpretation and Clinical Impact

Polyclonal evolution of lymphoproliferative disorders in XLP1

X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening

Healthcare resources for inborn errors of immunity in the Asia-Pacific region

Revisiting X-linked agammaglobulinemia

Primary and Safety Outcomes of a Phase 3 Open-Label, Single-Arm, 12-Week Study of Treatment with PI3Kδ Inhibitor Leniolisib in Pediatric Patients Aged 4–11 Years with Activated PI3Kδ Syndrome (APDS)

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