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One-Year Outcomes of Expanded Newborn Screening for Primary Immunodeficiency in Saitama Prefecture, Japan

Yoji Uejima, Koki Mori, Koichi Oshima, Wataru Oboshi, Satoshi Sato, Eisuke Suganuma, Kohsuke Imai, Oka Akira

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.30.

https://doi.org/10.70962/JSIAD2026abstract.30

Published: 04 June 2026

View article titled, One-Year Outcomes of Expanded Newborn Screening for Primary Immunodeficiency in Saitama Prefecture, Japan

Journal Articles

Late-Onset CID (Combined Immunodeficiency) in Families Due to TRAF3 Variants

Fumi Hirose, Yuki Sakai, Yu Hashimoto, Hidetoshi Hagiwara, Kanako Mitsui-Sekinaka, Hiroki Sato, Masahiro Ueki, Hidenori Ohnishi, Fumiaki Sakura, Satoshi Okada, Shan Ju Liu, Wei Te Lei, Cheng Lung Ku, Shigeaki Nonoyama, Kohsuke Imai

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.44.

https://doi.org/10.70962/JSIAD2026abstract.44

Published: 04 June 2026

View article titled, Late-Onset CID (Combined Immunodeficiency) in Families Due to TRAF3 Variants

Journal Articles

Successful Second Transplantation with Thiotepa-Containing Reduced-Intensity Conditioning in Hypomorphic RAG1 Deficiency

Mamoru Honda, Kohei Fukuoka, Koichi Oshima, Yoji Uejima, Yuichi Mitani, Makiko Mori, Yuki Arakawa, Kohsuke Imai, Hirokazu Kanegane, Katsuyoshi Koh

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.33.

https://doi.org/10.70962/JSIAD2026abstract.33

Published: 04 June 2026

View article titled, Successful Second Transplantation with Thiotepa-Containing Reduced-Intensity Conditioning in Hypomorphic RAG1 Deficiency

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

Current Situation and Future Perspective of the Validation Project for Newborn Screening of Severe Primary Immunodeficiency Diseases by the Children and Families Agency

Kohsuke Imai

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.14.

https://doi.org/10.70962/JSIAD2026abstract.14

Published: 04 June 2026

View article titled, Current Situation and Future Perspective of the Validation Project for Newborn Screening of Severe Primary Immunodeficiency Diseases by the Children and Families Agency

Journal Articles

X-Linked Agammaglobulinemia with Variants in 5’-Untranslated Region

Yusuke Ishibashi, Kay Tanita, Takeshi Isoda, Norimoto Kobayashi, Kiyotaka Zaha, Shigeaki Nonoyama, Kohsuke Imai, Masatoshi Takagi, Tomohiro Morio, Hirokazu Kanegane

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.28.

https://doi.org/10.70962/JSIAD2026abstract.28

Published: 04 June 2026

View article titled, X-Linked Agammaglobulinemia with Variants in 5’-Untranslated Region

Journal Articles

Immunoglobulin Replacement Therapy for Primary Immunodeficiency Patients in Japan: A PIDJ2 Registry-Based Study

Akifumi Endo, Sho Hosaka, Takeshi Isoda, Kohsuke Imai

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.38.

https://doi.org/10.70962/JSIAD2026abstract.38

Published: 04 June 2026

View article titled, Immunoglobulin Replacement Therapy for Primary Immunodeficiency Patients in Japan: A PIDJ2 Registry-Based Study

Journal Articles

A Phase 3 Clinical Study to Evaluate the Long-Term Safety and Tolerability of 20% IGSC for Japanese Patients with PID

Hirokazu Kanekane, Satoshi Okada, Hidenori Ohnishi, Kohsuke Imai, Taizo Wada, Ryuta Nishikomori, Atsushi Kuga, Ko Sakamoto, Sharon Russo-Schwarzbaum, Barbara McCoy, Zhaoyang Li, Leman Yel

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.37.

https://doi.org/10.70962/JSIAD2026abstract.37

Published: 04 June 2026

View article titled, A Phase 3 Clinical Study to Evaluate the Long-Term Safety and Tolerability of 20% IGSC for Japanese Patients with PID

Journal Articles

Successful Sirolimus Therapy in Steroid-Refractory RAS-Associated Autoimmune Lymphoproliferative Disorder with Mosaic KRAS Mutation

Ryota Komori, Takaki Asano, Fumiaki Sakura, Takehiko Doi, Akifumi Endo, Kohsuke Imai, Satoshi Okada

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.40.

https://doi.org/10.70962/JSIAD2026abstract.40

Published: 04 June 2026

View article titled, Successful Sirolimus Therapy in Steroid-Refractory RAS-Associated Autoimmune Lymphoproliferative Disorder with Mosaic KRAS Mutation

Journal Articles

Clinical Characteristics of Low KREC Cases in Newborn Screening for Primary Immunodeficiency

Shota Inoue, Yuya Fujita, Ryo Kojima, Sayaka Mitani, Yu Hashimoto, Yuki Sakai, Shoichiro Tateishi, Hidetoshi Hagiwara, Fumi Hirose, Junya Take, Yujin Sekinaka, Kanako Mitsui-Sekinaka, Yoji Ueshima, Kohsuke Imai

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.29.

https://doi.org/10.70962/JSIAD2026abstract.29

Published: 04 June 2026

View article titled, Clinical Characteristics of Low KREC Cases in Newborn Screening for Primary Immunodeficiency

Journal Articles

Clinical Overview of 100 Patients with Inborn Errors of Immunity at National Defense Medical College

Yu Hashimoto, Sayaka Mitani, Yuki Sakai, Shoichiro Tateishi, Hidetoshi Hagiwara, Fumi Hirose, Yujin Sekinaka, Kanako Mitsui-Sekinaka, Kohsuke Imai

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.19.

https://doi.org/10.70962/JSIAD2026abstract.19

Published: 04 June 2026

View article titled, Clinical Overview of 100 Patients with Inborn Errors of Immunity at National Defense Medical College

Journal Articles

CHARGE Syndrome with Athymia Diagnosed by Newborn Screening and Treated with Cord Blood Transplantation: A Case Report

Yu Kato, Koichi Oshima, Mamoru Honda, Yuichi Mitani, Makiko Mori, Kohei Fukuoka, Eito Imoto, Kazuma Tsuno, Daiju Oba, Yoji Uejima, Takehiro Niitsu, Yuki Arakawa, Kohsuke Imai, Hirokazu Kanegane, Katsuyoshi Koh

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.32.

https://doi.org/10.70962/JSIAD2026abstract.32

Published: 04 June 2026

View article titled, CHARGE Syndrome with Athymia Diagnosed by Newborn Screening and Treated with Cord Blood Transplantation: A Case Report

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One-Year Outcomes of Expanded Newborn Screening for Primary Immunodeficiency in Saitama Prefecture, Japan

Late-Onset CID (Combined Immunodeficiency) in Families Due to TRAF3 Variants

Successful Second Transplantation with Thiotepa-Containing Reduced-Intensity Conditioning in Hypomorphic RAG1 Deficiency

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

Current Situation and Future Perspective of the Validation Project for Newborn Screening of Severe Primary Immunodeficiency Diseases by the Children and Families Agency

X-Linked Agammaglobulinemia with Variants in 5’-Untranslated Region

Immunoglobulin Replacement Therapy for Primary Immunodeficiency Patients in Japan: A PIDJ2 Registry-Based Study

A Phase 3 Clinical Study to Evaluate the Long-Term Safety and Tolerability of 20% IGSC for Japanese Patients with PID

Successful Sirolimus Therapy in Steroid-Refractory RAS-Associated Autoimmune Lymphoproliferative Disorder with Mosaic KRAS Mutation

Clinical Characteristics of Low KREC Cases in Newborn Screening for Primary Immunodeficiency

Clinical Overview of 100 Patients with Inborn Errors of Immunity at National Defense Medical College

CHARGE Syndrome with Athymia Diagnosed by Newborn Screening and Treated with Cord Blood Transplantation: A Case Report

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