Issues

Abstracts from the 9th Scientific Meeting of the Japanese Society for Immunodeficiency and Autoinflammatory Diseases

Plenary Lecture

JSIAD Meeting Abstracts 2026

DOCK8 in Treg Cells Restrains Allergic Disease

Raif Geha
View Articletitled, DOCK8 in Treg Cells Restrains Allergic Disease
JSIAD Meeting Abstracts 2026

Abstracts from the 9th Scientific Meeting of the Japanese Society for Immunodeficiency and Autoinflammatory Diseases (JSIAD) - PDF

A collection of abstracts from the 9th Scientific Meeting of the Japanese Society for Immunodeficiency and Autoinflammatory Diseases (JSIAD), February 14–15, 2026, Sendai, Miyagi, Japan. All abstracts were reviewed and approved by the JSIAD Program Committee, which held full responsibility for the abstract selections.

View Articletitled, Abstracts from the 9th Scientific Meeting of the Japanese Society for Immunodeficiency and Autoinflammatory Diseases (JSIAD) - PDF

Special Lecture

JSIAD Meeting Abstracts 2026

Cell Biological Insights into the Pathogenesis of Autoinflammation

Tomohiko Taguchi
View Articletitled, Cell Biological Insights into the Pathogenesis of Autoinflammation

Congress Chairperson's Lecture

JSIAD Meeting Abstracts 2026

From the Research of Wiskott-Aldrich Syndrome to the Pathogenesis of Related Pediatric Disorders

Yoji Sasahara
View Articletitled, From the Research of Wiskott-Aldrich Syndrome to the Pathogenesis of Related Pediatric Disorders

Educational Lectures

JSIAD Meeting Abstracts 2026

Genetic Testing in Inborn Errors of Immunity: Implications for Diagnosis and Research

Osamu Ohara
View Articletitled, Genetic Testing in Inborn Errors of Immunity: Implications for Diagnosis and Research
JSIAD Meeting Abstracts 2026

Diagnosis of Autoinflammatory Diseases

Hiroaki Ida
View Articletitled, Diagnosis of Autoinflammatory Diseases

Symposium

JSIAD Meeting Abstracts 2026

Inborn Errors of Immunity and Endocrine Disorders

Tomohiro Hori
View Articletitled, Inborn Errors of Immunity and Endocrine Disorders
JSIAD Meeting Abstracts 2026

Neurological Manifestations of Inborn Errors of Immunity

Hirofumi Shibata
View Articletitled, Neurological Manifestations of Inborn Errors of Immunity
JSIAD Meeting Abstracts 2026

Inborn Errors of Immunity and Very Early-Onset Inflammatory Bowel Disease (VEO-IBD): Advances in Diagnosis and Research Based on Monogenic Disorders

Natsuki Ito,Kudo Takahiro
View Articletitled, Inborn Errors of Immunity and Very Early-Onset Inflammatory Bowel Disease (VEO-IBD): Advances in Diagnosis and Research Based on Monogenic Disorders
JSIAD Meeting Abstracts 2026

Skin Diseases Due to Inborn Errors of Immunity

Nobuo Kanazawa
View Articletitled, Skin Diseases Due to Inborn Errors of Immunity
JSIAD Meeting Abstracts 2026

Inborn Errors of Immunity Manifesting as Refractory Allergic Diseases

Hideaki Morita
View Articletitled, Inborn Errors of Immunity Manifesting as Refractory Allergic Diseases
JSIAD Meeting Abstracts 2026

Review of Recently Identified Inborn Errors of Immunity

Akihiro Hoshino
View Articletitled, Review of Recently Identified Inborn Errors of Immunity
JSIAD Meeting Abstracts 2026

Integrative Multi-Omics Approaches to Improve Genetic Diagnostic Yield in Inborn Errors of Immunity: Lessons from Our Cohort

Fumiaki Sakura
View Articletitled, Integrative Multi-Omics Approaches to Improve Genetic Diagnostic Yield in Inborn Errors of Immunity: Lessons from Our Cohort
JSIAD Meeting Abstracts 2026

The Forefront of Hematopoietic Stem Cell Transplantation: Focus on Inborn Errors of Immunity

Katsutsugu Umeda
View Articletitled, The Forefront of Hematopoietic Stem Cell Transplantation: Focus on Inborn Errors of Immunity
JSIAD Meeting Abstracts 2026

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
View Articletitled, Current Situation and Future Perspective of the Validation Project for Newborn Screening of Severe Primary Immunodeficiency Diseases by the Children and Families Agency
JSIAD Meeting Abstracts 2026

Impact of Primary Immunodeficiency Screening on Preterm Infants in the NICU

Akira Ohishi
View Articletitled, Impact of Primary Immunodeficiency Screening on Preterm Infants in the NICU
JSIAD Meeting Abstracts 2026

Transition of IEI Care from Pediatric to Adult Services: The Role of Pediatricians

Toshinao Kawai
View Articletitled, Transition of IEI Care from Pediatric to Adult Services: The Role of Pediatricians
JSIAD Meeting Abstracts 2026

How to Promote Transitional Care, from Adult Healthcare Clinicians

Shinsuke Yasuda, MD, PhD
View Articletitled, How to Promote Transitional Care, from Adult Healthcare Clinicians

Regular Abstracts

JSIAD Meeting Abstracts 2026

Nationwide Registry Study of VEXAS Syndrome in Japan: One-Year Follow-Up Results

Yohei Kirino,Ayaka Maeda,Kana Higashitani,Osamu Ohara,the Japanese VEXAS Syndrome Study Group,Hideaki Nakajima
View Articletitled, Nationwide Registry Study of VEXAS Syndrome in Japan: One-Year Follow-Up Results
JSIAD Meeting Abstracts 2026

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
View Articletitled, Clinical Overview of 100 Patients with Inborn Errors of Immunity at National Defense Medical College
JSIAD Meeting Abstracts 2026

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
View Articletitled, A Hypomorphic <em>UNC13D</em> Variant Causes Pancytopenia in a 12-Year-Old Girl Without Systemic Inflammation
JSIAD Meeting Abstracts 2026

Novel Single-Nucleotide Variant of SAMHD1 and Somatic Large Deletion in Chromosome 20 Identified in a Case of Late-Onset Chilblain Lupus

Teruasa Murata,Yurika Yoshioka,Mami Amaki,Nobuo Kanazawa,Kenta Misaki
View Articletitled, Novel Single-Nucleotide Variant of SAMHD1 and Somatic Large Deletion in Chromosome 20 Identified in a Case of Late-Onset Chilblain Lupus
JSIAD Meeting Abstracts 2026

A Case of ROSAH Syndrome Diagnosed Following Unexplained Splenomegaly and Thrombocytopenia in Early Childhood

Masaru Imamura,Akiko Sasaki,Hiromi Nyuzuki,Kumiko Yanagi,Tadashi Kaname,Naoya Saijo,Atsuo Kikuchi,Shigeo Kure,Jun Takayama,Chihaya Imai
View Articletitled, A Case of ROSAH Syndrome Diagnosed Following Unexplained Splenomegaly and Thrombocytopenia in Early Childhood
JSIAD Meeting Abstracts 2026

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
View Articletitled, Secondary Use of Unanalyzed Next-Generation Sequencing Data to Improve Diagnostic Yield in Inborn Errors of Immunity
JSIAD Meeting Abstracts 2026

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
View Articletitled, Rapid Flow Cytometric Diagnosis of XIAP Deficiency
JSIAD Meeting Abstracts 2026

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
View Articletitled, A Family with a Novel Heterozygous Loss-of-Function Variant in the N-Terminal Domain of <em>STAT1</em> Showing Variable Clinical Phenotypes
JSIAD Meeting Abstracts 2026

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
View Articletitled, A Case with <em>STAT1</em> GoF: Secondary Analysis of Gene Panel Test Is a Promising Method for Diagnosis of Inborn Errors of Immunity
JSIAD Meeting Abstracts 2026

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
View Articletitled, An Adult Case of Chronic Mucocutaneous Candidiasis and Autoimmune Hepatitis Due to <em>STAT1</em> Gain-of-Function Variant
JSIAD Meeting Abstracts 2026

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
View Articletitled, X-Linked Agammaglobulinemia with Variants in 5’-Untranslated Region
JSIAD Meeting Abstracts 2026

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
View Articletitled, Clinical Characteristics of Low KREC Cases in Newborn Screening for Primary Immunodeficiency
JSIAD Meeting Abstracts 2026

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
View Articletitled, One-Year Outcomes of Expanded Newborn Screening for Primary Immunodeficiency in Saitama Prefecture, Japan
JSIAD Meeting Abstracts 2026

Novel TBX1 Variants of Uncertain Significance in Two Infants with Abnormal T Cell Receptor Excision Circles on Newborn Screening

Yuta Maruyama,Kawa Ichikawa,Daisuke Akagawa,Takamasa Saito,Motoko Kamiya,Haruka Matsuzawa,Satoru Uehara,Miyu Ito,Yozo Nakazawa
View Articletitled, Novel <em>TBX1</em> Variants of Uncertain Significance in Two Infants with Abnormal T Cell Receptor Excision Circles on Newborn Screening
JSIAD Meeting Abstracts 2026

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
View Articletitled, CHARGE Syndrome with Athymia Diagnosed by Newborn Screening and Treated with Cord Blood Transplantation: A Case Report
JSIAD Meeting Abstracts 2026

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
View Articletitled, Successful Second Transplantation with Thiotepa-Containing Reduced-Intensity Conditioning in Hypomorphic RAG1 Deficiency
JSIAD Meeting Abstracts 2026

A Case of Allogeneic Hematopoietic Stem Cell Transplantation in a Patient with POLE2 Deficiency

Shingo Kudo, MD,Tomohiro Nakano, PhD,Yui Sasaki, MD,Nobuhisa Takahashi, PhD,Tomoko Waragai, MD,Kazuhiro Mochizuki, PhD,Yoji Sasahara, PhD,Hideki Sano, PhD
View Articletitled, A Case of Allogeneic Hematopoietic Stem Cell Transplantation in a Patient with POLE2 Deficiency
JSIAD Meeting Abstracts 2026

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
View Articletitled, Serum Leucine-Rich Alpha-2 Glycoprotein in Inflammatory Bowel Disease Complicated by Wiskott-Aldrich Syndrome
JSIAD Meeting Abstracts 2026

Severe Colitis in X-Linked Chronic Granulomatous Disease Bridged to Hematopoietic Cell Transplantation with Tacrolimus and Biologic Agents

Hiroshi Oue,Hirotaka Shimizu,Atsushi Tanioka,Rina Komorizono,Ichiro Takeuchi,Kentaro Fujimori,Takashi Ishikawa,Shoji Mizuno,Hirotoshi Sakaguchi,Toshinao Kawai,Katsuhiro Arai
View Articletitled, Severe Colitis in X-Linked Chronic Granulomatous Disease Bridged to Hematopoietic Cell Transplantation with Tacrolimus and Biologic Agents
JSIAD Meeting Abstracts 2026

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
View Articletitled, A Phase 3 Clinical Study to Evaluate the Long-Term Safety and Tolerability of 20% IGSC for Japanese Patients with PID
JSIAD Meeting Abstracts 2026

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

Akifumi Endo,Sho Hosaka,Takeshi Isoda,Kohsuke Imai
View Articletitled, Immunoglobulin Replacement Therapy for Primary Immunodeficiency Patients in Japan: A PIDJ2 Registry-Based Study
JSIAD Meeting Abstracts 2026

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
View Articletitled, 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
JSIAD Meeting Abstracts 2026

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
View Articletitled, Successful Sirolimus Therapy in Steroid-Refractory RAS-Associated Autoimmune Lymphoproliferative Disorder with Mosaic KRAS Mutation
JSIAD Meeting Abstracts 2026

Abatacept Enables Steroid Withdrawal in CNS Involvement of LRBA Deficiency: A Case Report

Tsuyoshi Ito
View Articletitled, Abatacept Enables Steroid Withdrawal in CNS Involvement of LRBA Deficiency: A Case Report
JSIAD Meeting Abstracts 2026

Invasive Pulmonary Aspergillosis in an Adolescent with X-Linked Agammaglobulinemia: A Case Report

Maya Sogabe,Sadao Tokimasa,Hikaru Nakai,Masashi Maekawa,Sinchul Jwa,Takashi Hamazaki
View Articletitled, Invasive Pulmonary Aspergillosis in an Adolescent with X-Linked Agammaglobulinemia: A Case Report
JSIAD Meeting Abstracts 2026

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
View Articletitled, Identification of a Novel <em>POLR3F</em> Gene Variant in a Patient with Susceptibility to Varicella-Zoster Virus Infection
JSIAD Meeting Abstracts 2026

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
View Articletitled, Late-Onset CID (Combined Immunodeficiency) in Families Due to <em>TRAF</em>3 Variants
JSIAD Meeting Abstracts 2026

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
View Articletitled, Dried Blood Spot (DBS) Proteomic Analysis in Familial Hemophagocytic Lymphohistiocytosis: Exploring Pre-Symptomatic Disease Biology and the Feasibility of Newborn Screening
JSIAD Meeting Abstracts 2026

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
View Articletitled, Clinical Features and Functional Analysis of Compound-Heterozygous <em>RAB27A</em> Variants in Griscelli Syndrome Type 2 with Sine Albinism
JSIAD Meeting Abstracts 2026

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