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Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features

Hiroyuki Baba, Tadashi Hosoya, Taiki Yamaguchi, Takuji Itakura, Hirokazu Sasaki, Natsuka Umezawa, Tetsuya Saito, Naoki Kimura, Ryuji Koike, Masayuki Yoshida, Masaki Shimizu, Hirokazu Kanegane, Shinsuke Yasuda

J Hum Immun (2026) 2 (5): e20250218.

https://doi.org/10.70962/jhi.20250218

Published: 10 August 2026

View article titled, Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features

Includes: Supplementary data

Journal Articles

How I treat: Diagnostic clues and treatment for activated phosphoinositide 3-kinase delta syndrome

Hirokazu Kanegane, Dan Tomomasa, Satoshi Okada

J Hum Immun (2026) 2 (5): e20260054.

https://doi.org/10.70962/jhi.20260054

Published: 27 July 2026

View article titled, How I treat: Diagnostic clues and treatment for activated phosphoinositide 3-kinase delta syndrome

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

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

Serum Leucine-Rich Alpha-2 Glycoprotein in Inflammatory Bowel Disease Complicated by Wiskott-Aldrich Syndrome

Ryohei Watanabe, Takeshi Isoda, Yusuke Ishibashi, Tatsuya Magara, Shuhei Takahashi, Ryosuke Wakatsuki, Dan Tomomasa, Satoshi Miyamoto, Kyogo Suzuki, Akihiro Hoshino, Takahiro Kamiya, Yoshifumi Ito, Yuki Mizuno, Kentaro Okamoto, Masatoshi Takagi, Hirokazu Kanegane

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.35.

https://doi.org/10.70962/JSIAD2026abstract.35

Published: 04 June 2026

View article titled, Serum Leucine-Rich Alpha-2 Glycoprotein in Inflammatory Bowel Disease Complicated by Wiskott-Aldrich Syndrome

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

Rapid Flow Cytometric Diagnosis of XIAP Deficiency

Ryosuke Wakatsuki, Madoka Nishimura, Dan Tomomasa, Shuhei Takahashi, Yusuke Ishibashi, Kyogo Suzuki, Koji Kawaguchi, Ryutaro Saura, Ichiro Takeuchi, Katsuhiro Arai, Masanaka Sugiyama, Akihiro Hoshino, Takahiro Kamiya, Takeshi Isoda, Michiko Kajiwara, Masatoshi Takagi, Hirokazu Kanegane

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.24.

https://doi.org/10.70962/JSIAD2026abstract.24

Published: 04 June 2026

View article titled, Rapid Flow Cytometric Diagnosis of XIAP Deficiency

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

An Adult Case of Chronic Mucocutaneous Candidiasis and Autoimmune Hepatitis Due to STAT1 Gain-of-Function Variant

Daiki Matsuzawa, Hirokazu Sasaki, Masaki Kimura, Myungri Kang, Marina Kise, Natsuka Umezawa, Hirokazu Kanegane, Shinsuke Yasuda

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.27.

https://doi.org/10.70962/JSIAD2026abstract.27

Published: 04 June 2026

View article titled, An Adult Case of Chronic Mucocutaneous Candidiasis and Autoimmune Hepatitis Due to STAT1 Gain-of-Function Variant

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

Clinical Features and Functional Analysis of Compound-Heterozygous RAB27A Variants in Griscelli Syndrome Type 2 with Sine Albinism

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

J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.46.

https://doi.org/10.70962/JSIAD2026abstract.46

Published: 04 June 2026

View article titled, Clinical Features and Functional Analysis of Compound-Heterozygous RAB27A Variants in Griscelli Syndrome Type 2 with Sine Albinism

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

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

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

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Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features

How I treat: Diagnostic clues and treatment for activated phosphoinositide 3-kinase delta syndrome

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

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

Serum Leucine-Rich Alpha-2 Glycoprotein in Inflammatory Bowel Disease Complicated by Wiskott-Aldrich Syndrome

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

Rapid Flow Cytometric Diagnosis of XIAP Deficiency

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

An Adult Case of Chronic Mucocutaneous Candidiasis and Autoimmune Hepatitis Due to STAT1 Gain-of-Function Variant

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

Clinical Features and Functional Analysis of Compound-Heterozygous RAB27A Variants in Griscelli Syndrome Type 2 with Sine Albinism

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

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

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