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Journal Articles

Thalidomide for CGD-related inflammatory bowel disease: A randomized, double-blind trial

Toshinao Kawai, Mayumi Sako, Katsuhiro Arai, Takashi Ishikawa, Tomoko Toma, Taizo Wada, Yutaro Yada, Masataka Ishimura, Takehiko Doi, Satoshi Okada, Hiroshi Moritake, Kazushi Izawa, Masahiro Ueki, Eisuke Inoue, Hidefumi Nakamura, Masafumi Onodera

J Hum Immun (2026) 2 (5): e20250256.

https://doi.org/10.70962/jhi.20250256

Published: 23 June 2026

View article titled, Thalidomide for CGD-related inflammatory bowel disease: A randomized, double-blind trial

Includes: Supplementary data

Journal Articles

Identification of a Novel POLR3F Gene Variant in a Patient with Susceptibility to Varicella-Zoster Virus Infection

Kay Tanita, Kerstin De Keukeleere, Satoshi Okada, Trine H. Mogensen, Hirokazu Kanegane

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.43.

https://doi.org/10.70962/JSIAD2026abstract.43

Published: 04 June 2026

View article titled, Identification of a Novel POLR3F Gene Variant in a Patient with Susceptibility to Varicella-Zoster Virus Infection

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

A Family with a Novel Heterozygous Loss-of-Function Variant in the N-Terminal Domain of STAT1 Showing Variable Clinical Phenotypes

Asami Kodera, Saori Katayama, Akira Kaino, Daichi Sato, Hidehiro Minegishi, Hitomi Abe, Tomohiro Nakano, Masahiro Irie, Hidetaka Niizuma, Himatun Istijabah, Satoshi Okada, Yoji Sasahara

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.25.

https://doi.org/10.70962/JSIAD2026abstract.25

Published: 04 June 2026

View article titled, A Family with a Novel Heterozygous Loss-of-Function Variant in the N-Terminal Domain of STAT1 Showing Variable Clinical Phenotypes

Journal Articles

Leniolisib, a Selective Phosphoinositide 3-Kinase Delta (PI3Kδ) Inhibitor, in Japanese Patients Aged 12 and Over with Activated PI3Kδ Syndrome (APDS): Data from a 12-Week, Open-Label, Single-Arm Study

Satoshi Okada, Hirokazu Kanegane, Ewen Munro, Jason Bradt, Anurag Relan

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.39.

https://doi.org/10.70962/JSIAD2026abstract.39

Published: 04 June 2026

View article titled, Leniolisib, a Selective Phosphoinositide 3-Kinase Delta (PI3Kδ) Inhibitor, in Japanese Patients Aged 12 and Over with Activated PI3Kδ Syndrome (APDS): Data from a 12-Week, Open-Label, Single-Arm Study

Journal Articles

A Case with STAT1 GoF: Secondary Analysis of Gene Panel Test Is a Promising Method for Diagnosis of Inborn Errors of Immunity

Yoshiharu Nagaoka, Satoshi Okada, Takaki Asano

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.26.

https://doi.org/10.70962/JSIAD2026abstract.26

Published: 04 June 2026

View article titled, A Case with STAT1 GoF: Secondary Analysis of Gene Panel Test Is a Promising Method for Diagnosis of Inborn Errors of Immunity

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

Identification of MMD2 as a Novel Causative Gene for Aggressive Periodontitis and Functional Analysis of Its Pathogenic Role

Tetsuya Yoshimoto, Tomoyuki Iwata, Yoko Mizoguchi, Miku Tsumura, Fumiakii Sakura, Yukiko Nagatani, Kazuhisa Ouhara, Takaki Asano, Hidenori Onishi, Hirokazu Kanegane, Satoshi Okada, Noriyoshi Mizuno

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.47.

https://doi.org/10.70962/JSIAD2026abstract.47

Published: 04 June 2026

View article titled, Identification of MMD2 as a Novel Causative Gene for Aggressive Periodontitis and Functional Analysis of Its Pathogenic Role

Journal Articles

Secondary Use of Unanalyzed Next-Generation Sequencing Data to Improve Diagnostic Yield in Inborn Errors of Immunity

Fumiaki Sakura, Ryota Komori, Chiaki Kidoguchi, Miyuki Tsumura, Takaki Asano, Satoshi Okada

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.23.

https://doi.org/10.70962/JSIAD2026abstract.23

Published: 04 June 2026

View article titled, Secondary Use of Unanalyzed Next-Generation Sequencing Data to Improve Diagnostic Yield in Inborn Errors of Immunity

Journal Articles

Clinical Implications of Novel Monoallelic STAT6 Gain-of Function Variants

Julia Körholz, Simran Samra, Mehul Sharma, Kanako Takeuchi, Fumiaki Sakura, Satoshi Okada, Sateesh Maddirevula, Ahmed Alfares, Stuart E. Turvey

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.42.

https://doi.org/10.70962/CIS2026abstract.42

Published: 01 May 2026

View article titled, Clinical Implications of Novel Monoallelic STAT6 Gain-of Function Variants

Journal Articles

Human Inherited RORγT Deficiency: Genetic Heterogeneity, Immunological Impact, and Clinical Homogeneity

Iris Fagniez, Stuart Tangye, Jean-Laurent Casanova, Cindy Ma, Anne Puel, Jacinta Bustamante, Satoshi Okada, Stephanie Boisson-Dupuis, Rui Yang

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.69.

https://doi.org/10.70962/CIS2026abstract.69

Published: 01 May 2026

View article titled, Human Inherited RORγT Deficiency: Genetic Heterogeneity, Immunological Impact, and Clinical Homogeneity

Journal Articles

A Novel STAT3 N-Terminal Domain Variant Reveals an Alternative Mechanism of Disease Pathogenesis in Hyper-IgE Syndrome

Joe Mackie, Dan Suan, Danielle Avery, Geetha Rao, David Langley, Alexandra Freeman, Paul Gray, Satoshi Okada, Daniel Christ, David Croucher, Antoine Guerin, Cindy Ma, Stuart Tangye

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.24.

https://doi.org/10.70962/CIS2026abstract.24

Published: 01 May 2026

View article titled, A Novel STAT3 N-Terminal Domain Variant Reveals an Alternative Mechanism of Disease Pathogenesis in Hyper-IgE Syndrome

Journal Articles

Acute necrotizing encephalopathy associated with COVID-19 in a pediatric patient and a systematic review

Kanako Takeuchi, Yuichi Tateishi, Kosuke Ashihara, Takanori Utsumi, Yoshiyuki Kobayashi, Takaki Asano, Satoshi Okada

J Hum Immun (2026) 2 (2): e20250101.

https://doi.org/10.70962/jhi.20250101

Published: 04 February 2026

View article titled, Acute necrotizing encephalopathy associated with COVID-19 in a pediatric patient and a systematic review

Includes: Supplementary data

Journal Articles

Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiency

Aidé Tamara Staines-Boone, Miyuki Tsumura, STAT1 Consortium, Jacinta Bustamante, Satoshi Okada, Lizbeth Blancas-Galicia

J Hum Immun (2025) 1 (3): e20250015.

https://doi.org/10.70962/jhi.20250015

Published: 29 July 2025

View article titled, Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiency

Includes: Supplementary data

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

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Journal

Article Type

Date

Thalidomide for CGD-related inflammatory bowel disease: A randomized, double-blind trial

Identification of a Novel POLR3F Gene Variant in a Patient with Susceptibility to Varicella-Zoster Virus Infection

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

A Family with a Novel Heterozygous Loss-of-Function Variant in the N-Terminal Domain of STAT1 Showing Variable Clinical Phenotypes

Leniolisib, a Selective Phosphoinositide 3-Kinase Delta (PI3Kδ) Inhibitor, in Japanese Patients Aged 12 and Over with Activated PI3Kδ Syndrome (APDS): Data from a 12-Week, Open-Label, Single-Arm Study

A Case with STAT1 GoF: Secondary Analysis of Gene Panel Test Is a Promising Method for Diagnosis of Inborn Errors of Immunity

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

Identification of MMD2 as a Novel Causative Gene for Aggressive Periodontitis and Functional Analysis of Its Pathogenic Role

Secondary Use of Unanalyzed Next-Generation Sequencing Data to Improve Diagnostic Yield in Inborn Errors of Immunity

Clinical Implications of Novel Monoallelic STAT6 Gain-of Function Variants

Human Inherited RORγT Deficiency: Genetic Heterogeneity, Immunological Impact, and Clinical Homogeneity

A Novel STAT3 N-Terminal Domain Variant Reveals an Alternative Mechanism of Disease Pathogenesis in Hyper-IgE Syndrome

Acute necrotizing encephalopathy associated with COVID-19 in a pediatric patient and a systematic review

Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiency

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

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

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