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Dried Blood Spot (DBS) Proteomic Analysis in Familial Hemophagocytic Lymphohistiocytosis: Exploring Pre-Symptomatic Disease Biology and the Feasibility of Newborn Screening

Hirofumi Shibata, Yuiko Hirata, Daisuke Nakajima, Ryo Konno, Motoko Higashiguchi, Hiroshi Nihira, Hiroshi Oue, Eitaro Hiejima, Kazushi Izawa, Hidenori Ohnishi, Junko Takita, Osamu Ohara, Yusuke Kawashima, Takahiro Yasumi

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.45.

https://doi.org/10.70962/JSIAD2026abstract.45

Published: 04 June 2026

View article titled, Dried Blood Spot (DBS) Proteomic Analysis in Familial Hemophagocytic Lymphohistiocytosis: Exploring Pre-Symptomatic Disease Biology and the Feasibility of Newborn Screening

Journal Articles

A Hypomorphic UNC13D Variant Causes Pancytopenia in a 12-Year-Old Girl Without Systemic Inflammation

Takasuke Ebato, Masanori Kaneko, Haruna Serizawa, Hiroki Suzuki, Hirofumi Shibata, Yuiko Hirata, Takahiro Yasumi, Kohsuke Imai, Hirokazu Kanegane, Yuki Bando

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.20.

https://doi.org/10.70962/JSIAD2026abstract.20

Published: 04 June 2026

View article titled, A Hypomorphic UNC13D Variant Causes Pancytopenia in a 12-Year-Old Girl Without Systemic Inflammation

Journal Articles

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

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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Dried Blood Spot (DBS) Proteomic Analysis in Familial Hemophagocytic Lymphohistiocytosis: Exploring Pre-Symptomatic Disease Biology and the Feasibility of Newborn Screening

A Hypomorphic UNC13D Variant Causes Pancytopenia in a 12-Year-Old Girl Without Systemic Inflammation

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)

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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Dried Blood Spot (DBS) Proteomic Analysis in Familial Hemophagocytic Lymphohistiocytosis: Exploring Pre-Symptomatic Disease Biology and the Feasibility of Newborn Screening

A Hypomorphic UNC13D Variant Causes Pancytopenia in a 12-Year-Old Girl Without Systemic Inflammation

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)

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)

Email alerts

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