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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

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

Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus

Aiswarya Sethumadhavan, Charles Mariasoosai, Natsuko Yamakawa, Nicolas Chamberlain, Matthew A. Deardorff, Shintaro Funaki, Takaki Asano, Jean-Laurent Casanova, Hedieh Torabifard, Bertrand Boisson, Eric Meffre

J Hum Immun (2026) 2 (3): e20250194.

https://doi.org/10.70962/jhi.20250194

Published: 24 February 2026

View article titled, Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus

Includes: Supplementary data

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

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

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

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

Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus

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

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

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

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

Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus

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

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

Email alerts

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