▶▶▶ プログラム（Program）
SL

Special Lecture

ENG

Saturday March 23, 2024

15:20-16:10 (Hall）
Chair: Surjit Singh (PGIMER)

One gene, many phenotypes – RAG deficiency: immune deficiency
with immune dysregulation

SL

CL

Luigi D. Notarangelo(National Institutes of
Health)Chairperson’s Lecture

Saturday March 23, 2024

ENG
17:20-18:10 (Hall）

Chair: 森尾 友宏 /Tomohiro Morio ( 東京医科歯科大学 /Tokyo Medical and Dental University)
CLD'où venons-nous? Que sommes-nous? Où allons-nous?

金兼 弘和(東京医科歯科大学)

Hirokazu Kanegane(Tokyo Medical and
Dental University)

JSY1

JSIAD シンポジウム 1

拡大新生児スクリーニングを IEI の診療にどう生かすか /JSIAD Symposium 1 Newborn screening for inborn errors of immunity
Friday March 22, 2024

JPN

10:20-12:00 (Hall East)
Chair: 水上 智之 /Tomoyuki Mizukami ( 国立病院機構熊本医療センター /National Hospital
Organization Kumamoto Medical Center)
村松 秀城 /Hideki Muramatsu ( 名古屋大学医学部附属病院 /Nagoya University Hospital)

JSY1-1

JSY1-2

JSY1-3

JSY1-4JSY1-5JSY2

原発性免疫不全症の拡大新生児スクリーニング検査体制

石毛 信之(公益財団法人東京都予防医学協会)

Expanded newborn screening system for primary
immunodeficiency

Association)

愛知県におけるTRECとKRECによる拡大新生児スクリーニング検査

若松 学(名古屋大学)

TREC and/or KREC newborn screening programs in Aichi
Prefecture

Manabu Wakamatsu(Nagoya University)

拡大新生児スクリーニングをIEIの診療にどう生かすか
ニング

友政 弾(東京医科歯科大学)

Nobuyuki Ishige(Tokyo Health Service

KRECスクリーHow to apply expanded newborn screening to IEI treatment:
KREC screening

Dan Tomomasa(Tokyo Medical and Dental

Newborn Screening for Severe Combined Immunodeficiency in
Taiwan: A Comprehensive Approach to Early Intervention andManagement

Yin-Hsiu Chien(National Taiwan University

プロテオーム解析による新たな新生児スクリーニング法開発

八角 高裕(京都大学)

A Non-targeted Proteomics Platform for Newborn Screening of
Genetic Disorders

Takahiro Yasumi(Kyoto University)

JSIAD シンポジウム 2

成人自己炎症性疾患

University)
Hospital)

最近の話題 /JSIAD Symposium 2 Recent topics in autoinflammatory disorders in adults
Friday March 22, 2024

JPN

13:40-15:10 (Hall East)
Chair: 右田 清志 /Kiyoshi Migita ( 福島県立医科大学 /Fukushima Medical University)
井田 弘明 /Hiroaki Ida ( 久留米大学 /Kurume University）-1-

JSY2-1

JSY2-2JSY2-3

JSY2-4

VEXAS症候群を含めた成人自己炎症性疾患最近の話題

桐野 洋平(横浜市立大学)

Recent Topics in Adult Autoinflammatory Diseases, Including
VEXAS Syndrome

Yohei Kirino(Yokohama City University)

成人における自己炎症性疾患の診断における留意点〜バリアントの解釈とその意義について〜

古賀 智裕(長崎大学)

Points to consider in the diagnosis of autoinflammatory diseases inadults - Interpretation of variants and their significanceTomohiro Koga(Nagasaki University)

自己炎症性疾患における体細胞モザイクの診断体制の構築：研究から検査へ

小原 收(かずさDNA研究所)

Establishment of a diagnosis system for somatic mosaicism in
autoinflammation: From research to genetic testing

Osamu Ohara(Kazusa DNA Research

Clonal hematopoiesisと自己炎症性疾患

井澤 和司(京都大学医学部附属病院)

Clonal hematopoiesis and autoinflammatory diseases

Kazushi Izawa(Kyoto University Hospital)

ASY1 ASPID Symposium 1
Sunday March 24, 2024

Institute)

Hematopoietic cell transplantation for inborn errors of immunity ENG

8:00-9:20 (Hall East)
Chair: Luigi D. Notarangelo (National Institutes of Health)
石村 匡崇 /Masataka Ishimura ( 九州大学病院 /Kyushu University)

ASY1-1HEMATOPOIETIC CELL TRANSPLANTATION FOR INBORNERRORS OF IMMUNITY: EXPERIENCES IN EUROPE

Fulvio Porta(Children’s Hospital, ASST
Spdali Civili, Bresia)

ASY1-2

Optimizing Outcome of Patients Receiving HSCT for PID –Perspectives in Asia

Pamela Lee(The University of Hong Kong)

ASY1-3

Recent advances in allogenic hematopoietic cell transplantation forJapanese patients with inborn errors of immunity

Satoshi Miyamoto(Tokyo Medical and Dental
University (TMDU))ASY2

ASPID Symposium 2

Sunday March 24, 2024

Basic research of inborn errors of immunity

ENG

10:50-12:10 (Hall West)
Chair: 峯岸 克行 /Yoshiyuki Minegishi ( 徳島大学 /Tokushima University)
Hans D Ochs (Washington University)

ASY2-1CRISPR-Based Treatment of Immunocompromised Host Infections David B. Lewis(Stanford University)and Generation of Induced Pluripotent Stem-Cell Models of Inborn
Errors of Immunity

ASY2-2

From Bench to Bedside: Applications of Humanized Mice in the
Research of Translational Immunology

Wenwei Tu(University of Hong Kong)

ASY2-3

Unwinding the molecular pathogenesis of a novel inherited
immunodysregulatory disorder caused by loss-of-function variants
in DExD/H box helicase SBNO2

Kazuyuki Meguro(National Institutes of
Health, Chiba University Hospital)

JEP

JSIAD 優秀演題 YIA/JSIAD Excellent Presentation

Saturday March 23, 2024

JPN

13:10-14:10 (Hall East)
Chair: 小野寺 雅史 /Masafumi Onodera ( 国立成育医療研究センター /National Center for Child Health and Development)
増本 純也 /Junya Masumoto ( 愛媛大学 /Ehime University)-2-

JEP-1

JEP-2

クリオピリン関連周期熱症候群における体細胞モザイク変異率の推移とシングルセル解析による病態解明加藤 健太郎(京都大学)

Longitudinal trends of somatic mutation rates and single-cellfunctional analysis in cryopyrin-associated periodic syndrome
somatic mosaic patients

Kentaro Kato(Kyoto University)

中條-西村症候群のモデルとしてのPsmb8 G201V 変異ノックインマウスの作製と特性評価

原 知之(和歌山県立医科大学)

Generation and characterization of the Psmb8 G201V mutation
knock-in mice as a model for Nakajo-Nishimura syndrome
JEP-3

JEP-4

Tomoyuki Hara(Wakayama Medical
University)

ESCRT複合体の機能不全はcGAS/STING経路に依存した炎症応答を引き起こす

砂山 風磨(東北大学)

Dysfunction of the ESCRT complex leads to cGAS/STINGdependent inflammatory responses

Fuma Sunayama(Tohoku University)

Induction of Eomes-expressing Th cells via upregulation of type I
interferon

Tzuwen Yeh(National Center of Neurology
and Psychiatry)

AEP APSID YIA Presentation
Sunday March 24, 2024

ENG

9:30-10:30 (Hall East)
Chair: Yu-Lung Lau (Hong Kong University)
Narissara Suratannon (Chulalongkorn University)

AYIA-1

Outcome of HSCT in children with rare inborn errors of immunity- Venkateswaran Vellaichamy
Swaminathan(Apollo Hospitals)
Ten years experience from a tertiary referral centre

AYIA-2

Tregopathies: Single centre experience of 25 patients withmonogenic autoimmunity

Vaishnavi Venkatachari Iyengar(BJ wadia
hospital for children)

AYIA-3Detection of copy number variations in Primary immunodeficiency
Disease using Multiplex Dependent Probe Amplification

Anit Kaur(Advanced Pediatric Centre)

AYIA-4

Exploring Inborn Errors of Immunity with Neutropenia: Clinicaland Molecular Insights from North India

Rakesh Kumar Pilania(PGIMER)IPOPI IPOPI Joint Session
Sunday March 24, 2024

PID Life Odyssey – the Patient Journey

ENG

15:30-16:30 (Hall West)
Moderator: Nizar Mahlauoi ( l'hôpital universitaire Necker-Enfants Malades)
Martin van Hagen (Erasmus University Medical Center)

JEL1

教育セッション 1/Educational Lecture 1

Friday March 22, 2024

JPN

9:10-9:40 (Hall West)
Chair: 小野寺 雅史 /Masafumi Onodera ( 国立成育医療研究センター /National Center for Child Health and Development)

JEL1

PIDJ2の概要と今後の展望〜データ利活用に向けて〜

今井 耕輔(防衛医科大学校）

PIDJ2: Primary Immunodeficiency Database in Japan ver.2 ~Overviewand future perspectives towards data utilization

College)-3-

Kohsuke Imai(National Defense Medical

JEL2

教育セッション 2/Educational Lecture 2

Friday March 22, 2024

JPN

16:30-17:30 (Hall West)
Chair: 高田 英俊 /Hidetoshi Takada ( 筑波大学 /Tsukuba University)

JEL2-1

フローサイトメーター検査結果の解釈のしかた

星野 顕宏(東京医科歯科大学)

A practical approach to flow cytometric analysis
JEL2-2

Akihiro Hoshino(Tokyo Medical and Dental
University)

PIDJ の仕組みと遺伝子検査の出し方

岡田 賢( 広島大学)

The system of PIDJ and the practical implementation of genetic test Satoshi Okada(Hiroshima University)
in IEIJOP1

JSIAD 口演 1

疫学・全国調査 /JSIAD Oral Presentation 1
Friday March 22, 2024

Epidemiology/National Survey

JPN

9:10-10:10 (Hall East)
Chair: 藤尾 圭志 /Keishi Fujio ( 東京大学 /Tokyo University)
森 雅亮 /Masaaki Mori ( 聖マリアンナ医科大学 /St. Marianna University School of Medicine）

JOP1-1

JOP1-2

JOP1-3

JOP1-4自己炎症性疾患の移行期医療の現状：会員アンケート結果から

日高 由紀子(久留米大学)

Current Status of Transitional Care for Autoinflammatory
Diseases: Results of a Member Questionnaire

Yukiko Hidaka(Kurume University)

日本の原発性免疫不全症候群患者を対象としたPatient Reported
Outcomes研究―非介入前向き観察研究―中間解析報告

河合 利尚(国立成育医療研究センター )Patient-Reported Outcomes in Patients with Primary
Immunodeficiency Diseases in Japan: Baseline Results from a
Prospective Observational Study

Toshinao Kawai(National Center for Child

原発性免疫不全症の移行支援の現状調査

河合 利尚(国立成育医療研究センター )Transition to Adult Care in Inborn Errors of Immunity: a webbased study

Toshinao Kawai(National Center for Child

健常妊産婦における血漿補体値の推移についての検討

辻本 弘(和歌山県立医科大学)

Measurement of plasma complement levels in pregnant women
JOP1-5

JOP1-6

JOP2

Health and Development)

Health and Development)

Hiroshi Tsujimoto(Wakayama Medical
University)

X連鎖無ガンマグロブリン血症の当院における後方視的検討-新生児スクリーニングの重要性に関して-井上 翔太(防衛医科大学校病院)

Importance of Newborn Screening Revealed by a Retrospective
Study of X-linked agammaglobulinemia in a single hospital

Shota Inoue(National Defense Medical

茨城県における新生児TREC/KRECスクリーニング

穂坂 翔(筑波大学附属病院)

TREC/KREC Newborn Screening in Ibaraki Prefecture

Sho Hosaka(University of Tsukuba Hospital)

JSIAD 口演 2

抗体産生不全症 /JSIAD Oral Presentation 2
Friday March 22, 2024

College)Primary antibody deficiency

JPN

9:50-10:50 (Hall West）
Chair: 竹崎 俊一郎 /Shunichiro Takesaki ( 北海道大学 /Hokkaido University)
松田 裕介 /Yusuke Matsuda ( 金沢大学 /Kanazawa University)

JOP2-1NFKB1 遺伝子異常を伴う分類不能型免疫不全症(common variable

三宅 淳(久留米大学)

immunodeficiency: CVID)の1例

A case of common variable immunodeficiency (CVID) with NFKB1
gene abnormality-4-

Atsushi Miyake(Kurume University)

JOP2-2

JOP2-3

JOP2-4JOP2-5

JOP2-6

JOP3

青年期まで無症状で経過したNFKB2 ハプロ不全によるDAVID症候群の 内田 嶺花(東京医科歯科大学)
1例

A case of asymptomatic DAVID syndrome with haploinsufficiency
of NFkB2 mutation diagnosed in adolescent

Reika Uchida(Tokyo Medical and Dental

中耳炎を繰り返し、低ガンマグロブリン血症とT細胞機能低下を契機に診断されたXMEN病

白潟 爽香(国立成育医療研究センター )XMEN disease diagnosed after recurrent otitis media,
hypogammaglobulinemia and decreased T-cell function

Sayaka Shiragata(National Center for Child

分類不能型免疫不全症および小児急性B細胞性リンパ性白血病を発症した患者におけるPAX5 の生殖系列ヘテロバリアント

宮本 智史(東京医科歯科大学)

University)

Health and Development)

A PAX5 heterozygous germline variant in a patient with common
variable immunodeficiency complicated with pediatric B-cell acutelymphoblastic leukemia

University)

TCF3 E555K変異の分子病態と特殊性に対する検証

内海 孝法(広島大学)

Validation of TCF3 E555K Variant against Molecular Mechanisms
and Unique Characteristics

Takanori Utsumi(Hiroshima University)

Late onset combined deficiency(LOCID)を呈した18q欠失症候群

橋口 祥(やまびこ医療福祉センター )18q deletion syndrome presenting with late onset combined
immunodeficiency

Sho Hashiguchi(Yamabiko Medical Welfare

JSIAD 口演 3

Satoshi Miyamoto(Tokyo Medical and Dental

Center)高 IgE 症候群・慢性肉芽腫症 /JSIAD Oral Presentation 3 Hyper-IgE syndrome/chronic granulomatous disease
Friday March 22, 2024

JPN

11:00-12:00 (Hall West)
Chair: 河合 利尚 /Toshinao Kawai ( 国立成育医療研究センター /National Center for Child Health and Development)
山田 雅文 /Masafumi Yamada ( 酪農学園大学 /Rakuno Gakuen University)

JOP3-1

STAT3 遺伝子に新規バリアントが検出された常染色体顕性遺伝高IgE

東川 朋子(松阪中央総合病院)症候群の親子例

A novel hypomorphic variant in the STAT3 gene identified in a
7-year-old male with hyper-IgE syndrome
JOP3-2

JOP3-3JOP3-4JOP3-5

JOP3-6

Tomoko Higashigawa(Matsusaka Chuo
General Hospital)

頚部化膿性リンパ節炎を繰り返したため皮下注用ヒト免疫グロブリン製剤を導入した高IgE症候群(STAT3-LoF)の一例

西口 雅人(岐阜大学)

Subcutaneous immunoglobulin replacement therapy was effective
against recurrent cold suppurative granulomatous lymphadenitis
with hyper-IgE syndrome: a case report

Masato Nishiguchi(Gifu Unversity)

肝内仮性動脈瘤による胆道出血を生じ、その後の全身スクリーニング検査で無症候性右冠動脈瘤を認めたSTAT3-高IgE症候群の一例

藤田 大輝(帯広厚生病院)

Biliary hemorrhage by intrahepatic pseudoaneurysm andasymptomatic right coronary aneurysm in a patient with STAT3Hyper IgE Syndrome

Daiki Fujita(Obihiro-Kosei General Hospital)

p67phox欠損慢性肉芽腫症に1型糖尿病を合併した14歳女児例

芹澤 陽菜(北里大学病院)

A case of 14 years old girl who was diagnosed with type1 diabetes
and p67phox deficient chronic granulomatous diseaseof Medicine)

当科における慢性肉芽腫症腸炎の臨床像と内視鏡所見

松田 裕介(金沢大学)

Clinical presentation and endoscopic findings of CGD colitis : asingle center experience

Yusuke Matsuda(Kanazawa University)

先天性好中球減少症と骨髄線維症から重症先天性好中球減少症5型と診断した1歳女児の診療経過と病態解析

髙橋 和樹(北海道大学病院)

Haruna Serizawa(Kitasato University School

Clinical course and immunological analysis of a girl with congenital Kazuki Takahashi(Hokkaido University
Hospital)
neutropenia and myelofibrosis diagnosed with severe congenital
neutropenia type 5
-5-

JOP4

JSIAD 口演 4

自己抗体産生異常症その他 /JSIAD Oral Presentation 4 Diseases of autoimmunity and immune dysregulation
Friday March 22, 2024

JPN

13:40-14:40 (Hall West)
Chair: 宮前 多佳子 /Takako Miyamae ( 東京女子医科大学 /Tokyo Women's Medical University)
植木 将弘 /Masahiro Ueki ( 北海道大学病院 /Hokkaido University Hospital)

JOP4-1

JOP4-2
JOP4-3
JOP4-4JOP4-5
JOP4-6

JOP5

成人期から抗TNFα抗体を開始したADA2欠損症の家族例

穂坂 翔(筑波大学附属病院)

Two related cases of ADA2 deficiency who began anti TNF-αtherapy in adulthood

Sho Hosaka(University of Tsukuba Hospital)

ELF4欠損症患者家系についての報告

荻野 諒(京都大学医学部附属病院)

Report on a family with DEX (defciency in ELF4, X-linked)

Ryo Ogino(Kyoto University Hospital)

EBV関連疾患における抗IL27自己抗体の検出

谷田 けい(イマジン研究所)

Detection of anti-IL27 autoantibodies in EBV-related diseases

Kay Tanita(Institut Imagine)

STIM依存的カルシウム流入が胚中心B細胞の正の選択と親和性成熟を制御する

矢田 裕太郎(九州大学)

STIM-mediated store-operated calcium entry regulates positive
selection and affinity maturation of germinal center B cells

Yutaro Yada(Kyushu University)

CARD11 遺伝子変異によるB細胞増多を認めた1例

西之園 翼(名古屋大学)

A case of B-cell proliferation due to CARD11 mutations

Tsubasa Nishinosono(Nagoya University)

SARS-CoV-2感染を契機に非典型溶血性尿毒症症候群を発症したC3
異常症の1例

安藤 正人(岐阜大学)

Atypical hemolytic uremic syndrome with C3 variant following
SARS-CoV-2 infection: A case report

Masato Ando(Gifu University)

JSIAD 口演 5

自然免疫異常症その他 /JSIAD Oral Presentation 5
Friday March 22, 2024

Defects in innate immunity

JPN

15:20-16:20 (Hall East)
Chair: 浅野 孝基 /Takaki Asano ( 広島大学 /Hiroshima University)
高田 紗奈美 /Sanami Takada ( 東京医科歯科大学 /Tokyo Medical and Dental University)

JOP5-1

腫瘤形成性多発骨病変で発症し全身型の若年性黄色肉芽種との鑑別を要したBCG骨髄炎を合併したSTAT1 異常症

小寺 麻実(東北大学病院)

STAT1 deficiency complicated with BCG osteomyelitis mimicking

Asami Kodera(Tohoku University Hospital)

網羅的機能評価に基づくRELA ナンセンス変異の病的意義の法則性の発見

早川 博子(広島大学)

Comprehensive functional study based discovery of the regularities
in the pathological significance of RELA nonsense mutations

Hiroko Hayakawa(Hiroshima University)

外科治療が有効であった超早期発症型炎症性腸疾患の小児例

畠野 真帆(東京医科歯科大学病院)

A pediatric case of very early-onset inflammatory bowel disease
successfully treated with a surgical intervention

Maho Hatano(Tokyo Medical and Dental

大腸の広範囲にリンパ濾胞過形成を認めたA20ハプロ不全症

宇佐美 雅章(金沢大学)

A case of a 20 haploinsufficiency with extensive lymphofollicular
hyperplasia of the colon

Masaaki Usami(Kanazawa University)

父親の病歴が手がかりとなり診断に至ったPAMI症候群の一例

住吉 孝允(岐阜大学)

A case of PAMI syndrome the father's medical history led to thediagnosis

Takamasa Sumiyoshi(Gifu University)

Systemic Juvenile Xanthogranuloma and developing mass-forming
multiple bone lesions

JOP5-2

JOP5-3

JOP5-4

JOP5-5-6-

University Hospital)

JOP5-6

JOP6

白血球・好中球数減少と細菌感染症の反復を契機に診断し、TREC・KREC低値であったWHIM症候群の乳児例

東 悠太(函館中央病院)

Low TREC and KREC levels in the patient with WHIM syndrome

Yuta Azuma(Hakodate Central Hospital)

JSIAD 口演 6

自己炎症性疾患 /JSIAD Oral Presentation 6
Friday March 22, 2024

Autoinflammatory disorders

JPN

15:10-16:20 (Hall West)
Chair: 日高 由紀子 /Yukiko Hidaka ( 久留米大学 /Kurume University)
保田 晋助 /Shinsuke Yasuda ( 東京医科歯科大学 /Tokyo Medical and Dental University)

JOP6-1

自己炎症性乳児期発症腸炎（AIFEC）で発症したマクロファージ活性化症候群（MAS）関連バリアントをもつNLRC4異常症の一例

加藤 大吾(千葉県こども病院)

Daigo Kato(Chiba Children's Hospital)
A case of NLRC4 inflammasomopathies with macrophageactivation syndrome (MAS)-associated variant in autoinflammation
with infantile enterocolitis (AIFEC)
JOP6-2

JOP6-3

JOP6-4自己炎症性角化症が疑われる皮膚変性病変を認めた１３歳女子例

谷 諭美(東京女子医科大学病院)

A 13-year-old girl with degenerative skin lesions suspected to be
autoinflammatory keratinization disease

Yumi Tani(Tokyo Women’s Medical
University Hospital)

Interferonopathyを来す自己炎症疾患との鑑別に苦慮した抗NXP2抗体陽性若年性特発性炎症性筋疾患の小児例

川邊 智宏(東京女子医科大学)

A child with anti-NXP2 antibody-positive juvenile idiopathic
inflammatory myopathy arduous to distinguish fromautoinflammatory interferonopathy

Tomohiro Kawabe(Tokyo Women's Medical

Sideroblastic anemia with Immunodeficiency, fevers anddevelopmental delay (SIFD)の一例における小胞体ストレスの解析

長森 恒久(旭川医科大学)

A case of Sideroblastic anemia with B-cell immunodeficiency,
periodic fevers, and developmental delay and the evaluation of
endoplasmic reticulum stress
JOP6-5

JOP6-6
JOP6-7JOP7University)

Tsunehisa Nagamori(Asahikawa Medical
University)

自然免疫分子STINGのリソソームミクロオートファジー分解を制御する分子の同定

佐藤 加奈子(東北大学)

Identification of lysosome-associated proteins that regulate themicroautophagic degradation of STING

Kanako Sato(Tohoku University)

自然免疫分子STING主要バリアントの機能評価

小出 頌悟(東北大学）

Activites of primary variants of innate immune protein STING

Shogo Koide(Tohoku University)

VEXAS症候群の患者末梢血を用いたDAMPsと細胞死の機能解析

安達 聡一郎(横浜市立大学)

Functional analysis of DAMPs and cell death using peripheral
blood of patients with VEXAS syndrome

Soichiro Adachi(Yokohama City University)

JSIAD 口演 7

造血細胞移植 /JSIAD Oral Presentation 7
Friday March 22, 2024

Hematopoietic cell transplantation

JPN

16:30-17:30 (Hall East)

Chair: 高木 正稔 /Masatoshi Takagi ( 東京医科歯科大学 /Tokyo Medical and Dental University)
森谷 邦彦 /Kunihiko Moriya ( 防衛医科大学校 /National Defense Medical College)
JOP7-1
JOP7-2

新生児スクリーニング検査で同定されたRORγT欠損症

西村 豊樹(宮崎大学)

RORγT deficiency identified by newborn screening

Toyoki Nishimura(Miyazaki University)

Mcleod症候群を併発した慢性肉芽腫症に対する造血幹細胞移植

藤森 倢太郎(国立成育医療研究センター )Successful transplantation in a patient chronic granulomatous
disease and McLeod phenotype

Kentaro Fujimori(National Center of Child
Health and Development)-7-

JOP7-3

ニューモシスチス肺炎, 難治性下痢症を呈したMHCクラスⅡ欠損症の乳児例

神山 裕二(横浜市立大学附属病院)

Case Report: An infant of major histocompatibility complex(MHC) Yuji Kamiyama(Yokohama City University
Hospital)
classⅡdeficiency with Pneumocystis pneumonia and intractablediarrhea
JOP7-4

JOP7-5

JOP7-6

鹿児島県拡大新生児マススクリーニング検査を契機に診断されたX-連鎖重症複合免疫不全症

西川 拓朗(鹿児島大学)

X-linked severe combined immunodeficiency syndrome identified
by extended newborn screening in Kagoshima prefecture

Takuro Nishikawa(Kagoshima University)

新生児マススクリーニングでTRECの低下を認め，FOXN1 遺伝子にヘテ
ロ接合性に新規バリアントを認めた双胎例松田 諒(佐世保市総合医療センター )Twins with heterozygous novel mutation in FOXN1 gene identified
by low copies of TREC in newborn screening

Ryo Matsuda(Sasebo City General Hospital)

XIAP欠損症におけるアレムツズマブを用いた同種造血細胞移植の後方視解析

宮本 智史(東京医科歯科大学)

Allogenic HCT with alemtuzumab for patients with XIAP
deficiency

AOP1 APSID Oral Presentation 1
Saturday March 23, 2024

Satoshi Miyamoto(Tokyo Medical and Dental
University)

Autoinflammatory 1

ENG

8:30-9:50 (Hall East)
Chair: Huawei Mao (Beijing Children's Hospital)
井田 弘明 /Hiroaki Ida ( 久留米大学 /Kurume University)

AOP1-1

TNF Receptor Associated Protein 1 variant predisposing toopportunistic Pneumocystis jiroveci infection and respiratory
failure in non-HIV subject

Louis Chai(National University Hospital)

AOP1-2

Vitronectin a novel urinary proteomic biomarker promotes cell
pyroptosis in juvenile systemic lupus erythematosus

Zhe Cai(Guangzhou Women and Children’s
Medical Center)

AOP1-3

NLRP12-associated systemic autoinflammatory disease presented
with atypical Kawasaki disease: a case report

Pin-Chia Huang(National Taiwan University

AOP1-4ROSAH (retinal dystrophy, optic nerve edema, splenomegaly,
anhidrosis, and headache) syndrome with Alpha-protein kinase 1

Areum Shin(Sungkyunkwan University)

AOP1-6

A Not-so-severe Congenital Neutropenia

Hospital)

Donald Vinh(McGill University HealthCentre)AOP1-7

Atypical familial hemophagocytic lymphohistiocytosis 3 patients

Xi Yang(Children’s Hospital of Chongqing

AOP1-8

RAG1 mutation: from SCID to autoinflammatory manifestations

Anh Thi Van Nguyen(Vietnam National

AOP2

APSID Oral Presentation 2

Saturday March 23, 2024

Medical University)
Children's Hospital)

B-cell deficiency

ENG

8:30-9:50 (Hall West)
Chair: Hans D Ochs (Washington University)
遠藤 明史 /Akifumi Endou ( 東京医科歯科大学 /Tokyo Medical and Dental University)

AOP2-1

Outcomes of X-linked agammaglobulinaemia patients in the United Jaime S Rosa Duque(The University of Hong
Kong)
Kingdom and Hong Kong

AOP2-2

BACH-2 Deficiency: Clinical and Immunological Features ina Patient early -onset with Recurrent Infections and Normal
Laboratory Test Results-8-

Mohammadreza Shafiei(Alborz Universityof Medical Sciences)Impact of Novel SLC5A6 Mutations on Vaccine Response and B
Cell Repertoire Dynamics via GC-Dependent and -Independent
Pathways

Chi-Chang Shieh(National Cheng Kung

AOP2-4

Autosomal recessive agammaglobulinemia caused by a novel
homozygous CD79a mutation due to segmental uniparental disomyof chromosome 19

Lang Yu(Chongqing Medical University)

AOP2-5

Agammaglobulinemia, absent tonsils, bronchiectasis, poor humoral Intan Hakimah Ismail(Universiti Putra
Malaysia)
immune responses and abnormal naïve helper T-cells associatedwith a De Novo IKZF1 mutation

AOP2-6

Common variable immunodeficiency (CVID) complicated by
Crohn's disease in a 6-year-old boy

AOP2-3

AOP2-7
AOP2-8

Takashi Fujiwara (National Defense Medical
College)

Novel variants in SLC39A7 in girl manifested with fever andmultiple ecthyma gangrenosum

Suravat Homvises(King Chulalongkorn
Memorial Hospital)

X-Linked SASH3 deficiency presenting with severe varicellainfections, recurrent sinopulmonary tract infections and low IgMlevelsAOP3 APSID Oral Presentation 3
Saturday March 23, 2024

University Medical College)

Tanatchabhorn Soponkanabhorn(King Chulalongkorn Memorial Hospital)

Autoinflammatory 2

ENG

13:10-14:10 (Hall West)
Chair: Vignesh Pandiarajan (PGIMER)
保田 晋助 /Shinsuke Yasuda ( 東京医科歯科大学 /Tokyo Medical and Dental University)

AOP3-1

The genetic and clinical characteristics and effects of Canakinumab Zhou Shu(Beijing Children's hospital)on cryopyrin-associated periodic syndrome: a large pediatriccohort study from China

AOP3-2

Heterozygous NRLP12 Genetic Variant Associated with Chronic
Granulomatous Disease-Phenotype

Ho Wai Koo(Hospital Sultan Abdul Halim)

AOP3-4Three NBAS deficiency cases highlighting the impact of variant
location on clinical outcomes

Yada Sirisa(King Chulalongkorn Memorial

AOP3-5

Autoinflammatory Syndromes at PGIMER, Chandigarh, India:
A Decade of Clinical Insights and Challenges

Deepti Suri(PGIMER)

AOP3-6

Activation of NLRP1 Inflammasome Due to Homozygous Deletionof CARD8 in a Patient

Rui Gan(Children's Hospital of Chongqing
Medical University)

AOP4

APSID Oral Presentation 4

Sunday March 24, 2024

Hospital)

MSMD

ENG

8:00-9:00 (Hall West)
Chair: Yunfei An (Children's Hospital of Chongqing Medical University)
岡田 賢 /Satoshi Okada (Hiroshima University)

IMMUNODEFICIENCY IN AN ADULT PRESENTING
AS RECURRENT MYCOBACTERIAL TUBERCULOSISINFECTION

Karol Anne Basallo Camonayan-Flor

AOP4-2

Autoantibodies to interferon-gamma: clinical features, solutions
to diagnostic challenges, and a proposal for in-vitro monitoring of
diseaseValerie Chiang(Queen Mary Hospital)

AOP4-3Spectrum of Phagocytic and other Innate Immune Defects from asingle center in India

Hospital for Children)

Anti-IFN-w autoantibodies and severe adenovirus infection

Chen-Yen Kuo(Chang Gung University)

AOP4-1

AOP4-4-9-(Philippine Society of Allergy)

Akshaya Sanjay Chougule(B. J. Wadia

AOP4-5
AOP4-6AOP5Interferon alpha therapy in children with Mendelian susceptibility
to mycobacterial disease: A case series
A full STAT1-mutated lentiviral library constructed by CrisprCas9 conducts promising diagnostic value on the classification of
STAT1-mutated diseases

APSID Oral Presentation 5

Sunday March 24, 2024

Vaishnavi Venkatachari Iyengar(BJ Wadia
Hospital for Children)

Huilin Mu(Children's hospital of Chongqing
Medical University)

IEI susceptible to EBV

ENG

9:30-10:30 (Hall West)
Chair: David Lewis (Stanford Univeristy)
笹原 洋二 /Yoji Sasahara ( 東北大学 /Tohoku University)

AOP5-1

New Presentation of CD27 deficiency; Coronary Ectasia and
COVID-19

Samin Sharafian(Mofid Children's Hospital)

AOP5-2RAS GUANYL-RELEASING PROTEIN 1(RASGRP1)
MUTATION ASSOCIATED WITH DIFFUSE MESANGIALSCLEROSIS INFANTILE NEPHROTIC SYNDROME AND
EPSTEIN-BARR VIRUS (EBV)-INDUCED HODGKIN’SLYMPHOMA

Khairoon Nisa Mohamed
Nashrudin(Universiti Putra Malaysia)

AOP5-3

A case of NRAS mutation associated early onset SLE with multiple
infections

Qi Zheng(Zhejiang University Children’s

AOP5-4
AOP5-5
AOP5-6

AOP6

Hospital)

Immunodeficiency-associated vaccine-derived poliovirus type 2(iVDPV2) in a patient with combined primary immunodeficiency

General Hospital)

Spectrum of EBV cohort from Western India- a single centre
experience

Children)Vijaya Gowri(B.J. Wadia Hospital for

NOVEL IMMUNODEFICIENCY CAUSED BY HOMOZYGOUS
MUTATION IN SOLUTE CARRIER FAMILY 19 MEMBER 1
ENCODING THE REDUCED FOLATE CARRIERAPSID Oral Presentation 6

Sunday March 24, 2024

Joan Camille Calma Sta. Ana(Philippine

Akira Shiraishi(Kyushu University)

Basic

ENG

11:10-12:10 (Hall East)
Chair: Elena WY Hsieh(Colorado University)
増本 純也 /Junya Masumoto ( 愛媛大学 /Ehime University)

AOP6-1

Effects of WASp on the inhibitory function of Treg by regulating
CTLA-4 mediated transendocytosis

Wenjing Zhang(Children’s Hospital of
Chongqing Medical University)

AOP6-2Global transcriptome profiling of activated T-cells in X-HIGM
patients using RNA-sequencing approach

Centre)AOP6-3

Autosomal Dominant IRF3 Deficiency in a child with LifeThreatening Enterovirus 71 Encephalitis

AOP6-6

Patient-derived EPSC platform in STAT1-GoF modelling

Manpreet Dhaliwal(Advanced Paediatrics
Kang Chen Xuan(Chang Gung University)
Jane Chi Yan Wong(University of Hong
Kong)

AOP6-7

Palmitoylation restricts SQSTM1/p62-mediated autophagic
degradation of NOD2 to modulate inflammation

Zeng Huasong(Guangzhou Women andChidren’s Medical Center)

AOP6-8Novel STAT1 deletion mutations lead to GOF phenotype in
two patients displaying atypical clinical spectrum concerning
autoimmunity

Ran Chen(Children's hospital of Chongqing
Medical University)- 10 -

AOP7 APSID Oral Presentation 7

HCT for IEI

ENG
Chair: Fulvio Porta (Children's Hospital Brescia)

森谷 邦彦 /Kunihiko Moriya ( 防衛医科大学校 /National Defense Medical College)
AOP7-2EXCELLENT OUTCOMES IN HSCT FOR CHILDREN WITH
INBORN ERROR OF IMMUNITY – EXPERIENCE FROMTERTIARY REFERRAL CENTRE IN INDIA

Venkateswaran Vellaichamy
Swaminathan(Apollo Hospitals)

AOP7-3Pretransplant ribavirin and interferon-α therapy for rhinovirusinterstitial pneumonia in a RAG1-deficient infant; against
respiratory viral infection of HCT

Nobutaka Harada(Kyushu University)

AOP7-4MHC-classII deficiency among Iranian patients : confirmation ofc.162delG RFXANK Founder Mutation in the Iranian Population

Mohadese Sadat Mousavi
Khorshidi(Tehran University)

AOP7-6

Results of haploidentical transplant in patients with donor specificantibodies: a case report

Le Nguyen-Ngoc-Quynh(Vietnam National

Effect of Upadacitinib for Clinical Remission in Patient with
Crohn’s Disease : a Systematic Review of Randomized Controlled
TrialsMohammad Zuhriansyah Sabran

AOP7-7AOP8APSID Oral Presentation 8

Sunday March 24, 2024

Children's Hospital)(Pelita Harapan University)

Patient care

ENG

13:45-15:05 (Hall West)
Chair: Yae-Jean Kim (Samsung Medical Center)大西 秀典 /Hidenori Ohnishi ( 岐阜大学 /Gifu University)

Prevalence And Varieties of Primary Immunodeficiency Disorders
among Persistent Pneumonia Cases in Children- A Hospital- Based
Study

Rumana Parveen(Bangladesh Shishu Hospital

AOP8-2

Revolutionizing Lymphocyte Subset Quantification with LySIM: A
Cost-Effective and Broadly Accessible Method

Henkie Isahwan Ahmad Mulyadi
Lai(University College of MAIWP

AOP8-3Cost-Utility analysis of newborn screening for Severe Combined
Immunodeficiency (SCID) in Korea

Jong Youn Moon(Gachon University)

AOP8-4

Clinical profile and management of pediatric hereditaryangioedema in resource constrained settings:our experience from asingle centre in North India

Prabal Barman(PGIMER)

AOP8-5

Quantifying and visualising our understanding of C1 inhibitor
deficiency: A 50-year bibliometric analysis on global research
productivity, collaboration and focus

Hugo W.F. Mak(Queen Mary Hospital)

AOP8-6

Investigating the performance of ten warning signs of Primary
Immunodeficiency as early diagnostic tool: a Nationwide Survey inJapan

AOP8-1& Institute)International)

Takahiro Kido(University of Tsukuba
Hospital)

AOP8-7

Profile of Autoimmunity and Immune Dysregulation in 360 Patients Neha Singh(Aster CMI Hospital)
with Inborn Errors of Immunity at A Tertiary Care Center In
South India

AOP8-8Characteristics and outcomes of common variable
immunodeficiency patients in a tertiary adult institution- 11 -

Xin Rong Lim(Tan Tock Seng Hospital)

APP1 APSID Poster-1
Saturday March 23, 2024

ENG
14:20-15:20 (Terrace Room)
Chair: Intan Hakimah Ismail (University Putra Malaysia)
神戸 直智 /Naotomo Kambe ( 京都大学 /Kyoto University)

APP1-1

Allo-immune Hemolytic Disease of the Newborn resulting from
Rhesus Incompatibility -A Case Report

Lytheang Try(National Pediatric Hospital)

APP1-2

Efficacy of JAK inhibitors in Patients with STING-AssociatedVasculopathy with Onset in Infancy

Mengyue Deng(Beijing Children’s Hospital)

APP1-3

Tocilizumab Effectively Managed for a Girl with A20
Haploinsufficiency

Korea)

Identified mutation in FOXP3 gene in Vietnamese patient with
IPEX syndrome

Children's Hospital)

APP1-4

Dae Chul Jeong(The Catholic University of
Mai Thi Phuong Nguyen(Vietnam National

APP1-5

Wiskott–Aldrich syndrome protein maintains regulatory T cell
tolerance by modulating their surface IL-2 receptor levels

Zhou Shu(Beijing Children's Hospital)

APP1-6

Short stature, hypothyroidism and systemic lupus erythematosus:
clinical clues to an underlying type 1 interferonopathy

Prabal Barman(PGIMER)

APP1-7

Elucidating the Impact of STAT1 Gain-of-Function Mutations:
Immunophenotyping and Therapeutic Insights from Chronic
Mucocutaneous Candidiasis Cases in Taiwanese Families

Wei Te Lei(Hsinchu Municipal MackayChildren's Hospital)

APP2 APSID Poster-2
Saturday March 23, 2024

ENG
14:20-15:20 (Terrace Room)
Chair: Xi Yang (Children's Hospital of Chongqing Medical University)
植木 将弘 /Masahiro Ueki ( 北海道大学病院 /Hokkaido University Hospital)

APP2-1Jaime S Rosa Duque(The University of Hong
Increasing trend of COVID-19 anti-S-RBD and surrogate
neutralizing antibodies in X-linked agammaglobulinaemia patients Kong)
receiving Ig replacement from 2021 to 2023

APP2-2

Mild clinical phenotype of Omicron infection in children with
inborn errors of immunity

HanYang(Capital Medical University)

APP2-3

Identification mutations of BTK Gene in patients with X-Linked
Agammaglobulinemia Disease

Tien Manh Ngo(Vietnam National Children’s

Predictors of infections in patients with secondary
hypogammaglobulinemia in a tertiary rheumatological unit

Justina Wei Lynn Tan(Tan Tock Seng

APP2-4
APP2-5
APP2-6
APP2-7

Unmasking the Impact of STAT-1 Gain-of-Function Mutations

Hospital)
Hospital Singapore)

Brenda Guendulain velazquez(Mexican
Social Security Institute)

The first case of chronic osteomyelitis by fluconazole-resistantCandida albicans in a CARD-9 deficiency Korean patient

Hospital)

BTK MUTATION: case report and current screening situation

Tuan Minh Nguyen(Children Hospital No1)

Yoonsun Yoon(Korea University Guro

APP3 APSID Poster-3
Saturday March 23, 2024

ENG
14:20-15:20 (Terrace Room)
Chair: Narissara Suratannon (Chulalongkorn University)
磯田 健志 /Takeshi Isoda ( 東京医科歯科大学 /Tokyo Medical and Dental University)

APP3-1

A case of disseminated molluscum contagiosum in atopic triad
with recurrent pneumonia and work-up of underlying combined
immunodeficiency- 12 -

Carolyn Mae Matira Abelador(UP-Philippine General Hospital)

Wiskott Aldrich Syndrome Suspected on a Critically-Ill 5 monthold Male

Jemma Grace Fianza(Philippine General

APP3-3

Successful allogeneic hematopoietic stem cell transplantation fora male with EBV associated-hemophagocytic lymphocystiocytosis
and X-linked Inhibitor of Apoptosis Deficiency: a Case Report in
TaiwanChing Yu Wang(National Taiwan University
Hospital Yunlin Branch)

APP3-4

TWO CASES OF COMBINED IMMUNODEFICIENCY CAUSED Yulu Li(Beijing Children's Hospital)
BY PTPRC MUTATIONS

APP3-5HEMATOPOIETIC STEM CELL TRANSPLANTATION IN
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS: A SINGLE
CENTRE EXPERIENCE

Fouzia Nambiathayil Aboobacker(ChristianSpectrum of Systemic Autoinflammatory Diseases at a Tertiary
Care Center in South India

Neha Singh(ASTER CMI)

APP3-2

APP3-7

APP4

Hospital)

Medical College Vellore)

APSID Poster-4

ENG

Saturday March 23, 2024

14:20-15:20 (Terrace Room)
Chair: Wenwei Tu (Hong Kong University)
浅野 孝基 /Takaki Asano ( 広島大学 /Hiroshima University)

APP4-1

Clinical courses and genetic analysis in Taiwanese patients withSyndromic diarrhea/Trichohepatoenteropathy (SD/THE)

Wen-I Lee(Chang Gung University)

APP4-2Syndromic neurtropenia in Indian childSathish Kumar Loganathan(Christian

APP4-3

Outcome for patients with severe congenital neutropenia treatedoutpatient granulocyte colony-stimulating factor at Vietnam
National Children's Hospital

Anh Phuong Ha(APSID)

APP4-4

A Classic Case of Dyskeratosis Congenita

Elaine Louise Lavilles
Fernandez(Philippine General Hospital)

APP4-5Long road to recovery of one IFNGR1 deficiency case: from head to Wenjing Zhang(Children’s Hospital of
Chongqing Medical University)calf, from BCG to NTM

PL

Medical College Vellore)

Plenary Lecture

ENG

Saturday March 23, 2024

16:20-17:10 (Hall)

Sponsored by Miyarisan Pharmaceutical

Chair: 金兼 弘和 /Hirokazu Kanegane ( 東京医科歯科大学 /Tokyo Medical and Dental University)
PL

SSY

Inborn errors of immunity as a cause of inflammatory bowel
disease

共催シンポジウム

Holm Uhlig(University of Oxford)

自己炎症性疾患における最新 Topics/

Sponsored Symposium Latest Topics on Autoinflammatory Diseases
Saturday March 23, 2024

10:20-11:40 (Hall West)

ENG

Sponsored by Novartis Pharma

Chair: 西小森 隆太 /Ryuta Nishikomori ( 久留米大学 /Kurume University)
SSY-1

Novel Autoinflammatory Disease Causal Gene Identification andTargeted Therapy

Qing Zhou(Zhejiang University)

SSY-2

FMFの遺伝子型—表現型相関∼我々の理解はどこまで進んだか∼

本田 吉孝(京都大学)

Current understanding of genotype-phenotype correlations in FMF Yoshitaka Honda(Kyoto University)- how far are we away from our real goal ?
- 13 -

SSY-3MS

STING炎症シグナルを制御する分子基盤田口 友彦(東北大学)

The molecular mechanism underlying the STING inflammatory
signalling

Tomohiko Taguchi(Tohoku University)

共催モーニングセミナー /COVID-19 から学ぶ先天性免疫異常症 (IEI) と感染症対策

Sponsored Morning Seminar
Saturday March 23, 2024

JPN

10:20-11:20 (Hall East)Sponsored by Astra Zeneca

Chair: 和田 泰三 /Taizo Wada ( 金沢大学 /Kanazawa University)MS

先天性免疫異常症に学ぶ、COVID-19と闘う免疫系

今井 耕輔(防衛医科大学校)

Immune System fighting against COVID-19~Lessons Learned from Kohsuke Imai(National Defense Medical
College)
Inborn errors of immunity~

LS1

ランチョンセミナー 1/Luncheon Seminar 1

JPN

Friday March 22, 2024 12:20-13:20 (Hall East)		

Sponsored by Japan Blood Products Organization
Chair: 大賀 正一 /Ohga Shouichi ( 九州大学 /Kyushu University)

LS1

原発性免疫不全症の診断と感染予防

高田 英俊(筑波大学)

Inborn Errors of Immunity: Diagnosis and Prevention of infectious Hidetoshi Takada(University of Tsukuba)
diseasesLS2

ランチョンセミナー 2

家族性地中海熱（FMF）診断 / 治療最前線 /JPN

Luncheon Seminar 2 Latest Topics on how to diagnose and treat Familial Mediterranean fever(FMF)

Friday March 22, 2024

12:20-13:20 (Hall West)

Sponsored by Novartis Pharma

Chair: 井田 弘明 /Hiroaki Ida ( 久留米大学 /Kurume University)
LS2-1

FMF 診断基準と自己炎症性疾患診療ガイドラインの改訂について

八角 高裕(京都大学)

Revised FMF Diagnostic Criteria and Guidelines for the Treatment Takahiro Yasumi(Kyoto University)of Autoinflammatory Diseases
LS2-2

LS3

家族性地中海熱と鑑別すべき疾患

桐野 洋平(横浜市立大学)

Diseases that should be differentiated from familial Mediterranean
fever

Yohei Kirino(Yokohama City University)

ランチョンセミナー 3/Luncheon Seminar 3

Saturday March 23, 2024

12:00-13:00 (Hall East)

ENG
Sponsored by CSL Behring

Chair: 笹原 洋二 /Yoji Sasahara ( 東北大学 /Tohoku University)
LS3

Immunoglobulin Therapy- From Mechanisms to Therapeutic Goals Pamela Lee(Hong Kong University)- 14 -

LS4

ランチョンセミナー 4

新生児期・乳児期に見逃してはいけない希少疾患 /Luncheon Seminar 4 Rare diseases not to be missed in newborns and infants
Saturday March 23, 2024

12:00-13:00 (Hall West)

JPN

Sponsored by Alexion Pharma

Chair: 伊達木 澄人 /Sumito Dateki ( 長崎大学病院 /Nagasaki University Hospital)
LS4-1

LS4-2

LS5

ライソゾーム酸性リパーゼ欠損症：血球貪食性リンパ組織球症（HLH）をきたす希少疾患

山田 勇気(大阪市立総合医療センター )Lysosomal acid lipase deficiency: Rare diseases presenting withhemophagocytic lymphohistiocytosis (HLH)

Yuki Yamada(Osaka City General Hospital)

小児難病の早期診断と治療

中村 公俊(熊本大学)

Early diagnosis and treatment for intractable diseases in childhood

Kimitoshi Nakamura(Kumamoto University)

ランチョンセミナー 5/Luncheon Seminar 5

Sunday March 24, 2024

12:30-13:30 (Hall East)

ENG
Sponsored by Takeda Pharmaceutical

Chair: 岡田 賢 /Satoshi Okada ( 広島大学 /Hiroshima University)
LS5

LS6

Children with rare diseases of the immune systems – fromtherapeutic orphans to pioneers of a new era of precision medicine

Christoph Klein(Dr. von Hauners Children’s
Hospital)

ランチョンセミナー 6/Luncheon Seminar 6

Sunday March 24, 2024

ENG

12:30-13:30 (Hall West)

Sponsored by Pharming

Chair: 森尾 友宏 /Tomohiro Morio ( 東京医科歯科大学 /Tokyo Medical and Dental University)
Stuart Tangye (The Garvan Institute of Medical Research)
LS6-1

Driving Discovery in Primary Immune Deficiency: Understanding
APDS

Stuart Tangye(The Garvan Institute ofMedical Research)

LS6-2

Driving Discovery in Primary Immune Deficiency: Understanding
APDS

森尾 友宏(東京医科歯科大学)- 15 -Tomohiro Morio(Tokyo Medical and
Dental University)

[IEI School 2024]
IEI1 IEI School Session 1
Friday March 22, 2024

Antibody deficiency

ENG

8:40-9:40 (Room C)
Chair: 和田 泰三 /Taizo Wada ( 金沢大学 /Kanazawa University)
Huawei Mao (Beijing Children's Hospital)

IEI1-L

Inborn Errors of Immunity (IEI) resulting in Primary Antibody
Deficiencies (PAD)

Hans D Ochs(University of Washington)

IEI1-1An infant girl with complex infections and agammaglobulinemia

Nguyen Ngoc Tin(Children's Hospital No.1)

IEI1-2

Disseminated molluscum contagiosum as the initial manifestationof Hyper IgE syndrome

Hospital)

IEI1-3

IEI2

A case of a 10-year-old girl with NFKB2 deficiency who developed
refractory thrombocytopenia treated by rituximab

IEI School Session 2

Friday March 22, 2024

Isabella Ocampo Santos(Philippine General
Hwanhee Park(Samsung Medical Center)

EI and TCR signaling defects

ENG

9:40-10:40 (Room C)
Chair: 岡田 賢 /Satoshi Okada ( 広島大学 /Hiroshima University)
Adli Bin Ali (Universiti Kebangsaan Malaysia)

IEI2-LT cell signaling defects in primary immune regulatory disorders(PIRD)

Elena Hsieh(Colorado University)

IEI2-1

X-linked anhidrotic ectodermal dysplasia with immunodeficiency:
14 years experience in a medical center in Taiwan

Hsin-Hui Yu(National Taiwan University

IEI2-2

A family with a potentially novel defect of a transcription factor
gene affecting CD4 T cells

Daniel Leung(The University of Hong Kong)

IEI2-3

POLYAUTOIMMUNITY IN AN INFANT WITH LOW
T-CELLS: AN INTERESTING CASE OF CD3ε DEFICIENCYAND REVIEW OF LITERATURE

Neha Singh(Aster CMI Hospital)

IEI3 IEI School Session 3
Friday March 22, 2024

Children’s Hospital)

IEI with autoimmune diseases

ENG

11:00-12:00 (Room C)
Chair: Woei Kang Liew (Mount Elizabeth Novena Hospital)
大西 秀典 /Hidenori Ohnishi ( 岐阜大学 /Gifu University)

IEI3-L

Inborn Errors of Immunity; autoimmune disease

IEI3-1Sirolimus Significantly Improves Symptoms in Patients with
SOCS1 Haploinsufficiency

IEI3-2

Battling the staggering STATs: clinical heterogeneity of STAT1
gain-of-function mutations in a Chinese kindred

IEI3-3

RAG1 deficiency with atypical severe combined immunodeficiency,
autoimmunity, and gamma-delta T cells expansion in non-identicaltwins- 16 -

Martin van Hagen(Erasmus University
Medical Center)

Mengyue Deng(Beijing Children’s Hospital)
Phoebe Qiaozhen Mak(Princess Margaret
Hospital)

Pei-Jung Chung(National Taiwan University
Children’s Hospital)

IEI4

IEI School Session 4

Friday March 22, 2024

Monogenic IBD

ENG

15:00-16:00 (Room C)
Chair: Narissara Suratannon (Chulalongkorn University)

新井 勝大 /Katsuhiro Arai ( 国立成育医療研究センター /National Center for Child Health and Development)
IEI4-LThe diagnostic approach to autoimmune enteropathies andmonogenic IBD

IEI4-1

Haploinsufficiency of A20 presenting as very-early-onset
inflammatory bowel diseases and juvenile idiopathic arthritis
Co-manifestation of Leukocyte Adhesion Deficiency Type II andMonogenic Inflammatory Bowel Disease Explained by Structural
Modeling of SLC35C1 Variant

IEI4-2

Chester Huang(KK Women's and Children's
Hospital)

Mahnaz Jamee(Willem-Alexander Children’s
Hospital)

A child with enteritis: Elucidating the importance of identifying the Sathish Kumar Loganathan(Christian
Medical College Vellore)
underlying monogenic etiology

IEI4-3IEI5

Holm Uhlig(University of Oxford)

IEI School Session 5

Friday March 22, 2024

IEI with cytopenia

ENG

16:00-17:00 (Room C)
Chair: 笹原 洋二 /Yoji Sasahara ( 東北大学 /Tohoku University)
Yae-Jean Kim (Samsung Medical Center)

IEI5-L

Autoimmune Cytopenias and Inborn Errors of Immunity: Recent
Insights into Pathogenesis and Optimizing Therapy

David B. Lewis(Stanford Univeristy)

IEI5-1

A case of Wiskott-Aldrich syndrome successfully underwent
allogeneic hematopoietic stem cell transplantation by treating
immune thrombocytopenia with rituximab

Saori Katayama(Tohoku University Hospital)

IEI5-2

Mitochondrial disease with EARS2 mutation presenting withcombined immunodeficiency: a case reportHsin-Ying Hsieh(National Taiwan University
Children’s Hospital)

IEI5-3

De Novo deep intron ELANE mutation resulting in severecongenital neutropenia

Zhou Shu(Beijing Children's Hospital)

IEIP-AIEI Poster session-A

Friday March 22, 2024

Ab, TCR, IBD, cytopenia

ENG

13:30-15:00 (Terrace Room)
Chair: Jaime Sou Da Rosa Duque (Hong Kong University)
石毛 崇 /Takashi Ishige ( 群馬大学 /Gunma University)

IEIP-A-1

A novel IKBKG intronic splicing mutation resulting in a completely Zhirui Tian(Children’s Hospital of Chongqing
Medical University)
loss of NEMO protein and causing a severe NEMO-ID phenotype

IEIP-A-2

A rare case of necrotizing encephalopathy in a CMV-infectedboy with pancytopenia and abnormalities of skin, nails, and oral
mucosaTin Ngoc Nguyen(Children's Hospital No 1)

IEIP-A-3

Severe combined immunodeficiency in CHARGE syndrome, thefirst case in Korea

Luli Kim(Samsung Medical Center)

IEIP-A-5

Tricho-Hepato-Enteric syndrome type 2: the first case report in
TaiwanJou-An Chen(National Taiwan University
Children’s Hospital)- 17 -

IEIP-B

IEI Poster session-B

Friday March 22, 2024

autoimmunity-1

ENG

13:30-15:00 (Terrace Room)
Chair: Jonie Santos-Ocampo (Makati Medical Center and Asian Hospital)
金澤 伸雄 /Nobuo Kanazawa ( 兵庫医科大学 /Hyogo Medical University)

IEIP-B-2

Refractory recurrent thrombocytopenia in 9-year-old boy

Kanako Takeuchi(Hiroshima University)

IEIP-B-3

Autoimmune Manifestations Prevalence among Chronic
Cranulomatous Disease (CGD) Patients from a Primary
Immunodeficiency Referral Center In IranSamin Sharafian(Mofid Children's Hospital)

IEIP-B-5

Nephrocalcinosis in Autoimmune Polyendocrinopathy Candidiasis
Ectodermal Dystrophy (APECED); Primary or Iatrogenic?

Mohammadreza Shafiei(Alborz University)

IEIP-B-6

An Adolescent Boy with Recurrent Painful Ulcer and Arthritis

Diadra Annisa(Cipto Mangunkusumo

IEIP-CIEI Poster session-C

Friday March 22, 2024

Hospital)

autoimmunity-2

ENG

13:30-15:00 (Terrace Room)
Chair: Dina Muktiarti (Cipto Mangunkusumo Hospital)
磯田 健志 /Takeshi Isoda ( 東京医科歯科大学 /Tokyo Medical and Dental University)

Successful treatment of sirolimus for chronic diarrhea in LRBA
Deficiency patient : A case report

Natcharindhorn Thaweepolaungsuchawon

IEIP-C-2

An infant with recurrent fever with a somatic NRAS mutation

Sophie Hon Yu Lai(Queen Mary Hospital)

IEIP-C-3

Immunodysregulation and lymphoproliferation in a patient with
PIK3CD despite sirolimus use

Qin Ying Lim(Queen Mary Hospital)

IEIP-C-4

Early onset autoimmunity in patients with Inborne errors of
Immunity

Madhubala Sharma(PGIMER)

IEIP-C-5

Eight Cases of Autoinflammatory Recurrent Fevers

Lan Shu(Women and Children's Hospital of

Family analysis on case of Griscelli syndrome type 2

Xi Yang(Children’s Hospital of Chongqing

IEIP-C-1

IEIP-C-6

IEIP-DIEI Poster session-D

Friday March 22, 2024

(Ramathibodi Hospital)

Hubei Province)
Medical University)

SCID, DADA2, NBS

ENG

13:30-15:00 (Terrace Room)
Chair: Wenwei Tu (Hong Kong University)
土居 岳彦 /Takehiko Doi ( 広島大学 /Hiroshima University)

IEIP-D-1

Skin Hyperpigmentation as a new Presentation in 6 Patients with
Adenosine Deaminase Deficiency(ADA)deficiency

Samin Sharafian(Mofid Children's Hospital)

IEIP-D-2

Demographic, clinical, immunological, and molecular features of
iranian national cohort of patients with Artemis deficiency due tothe defect in DCLRE1C gene

Samin Sharafian(Mofid Children's Hospital)

IEIP-D-3

Recurrent flare-associated urticaria in adenosine deaminase type 2
deficiency

Pratap Kumar Kumar Patra(All India

IEIP-D-4

Protean manifestations of DADA2 : a physician’s conundrum

Prabal Barman(PGIMER)

IEIP-D-5

Clinical and molecular profile of 20 patients with DOCK8
deficiency: A single-centre experience from Southern India

Neha Singh(Aster CMI Hospital)

IEIP-D-6

Newborn Screening for Primary Immunodeficiency Diseases (PID)
in Malaysia: Current Status, Challenges and Progress

Wai Leng Chang(Universiti Kebangsaan- 18 -

Institute of Medical Sciences)

Malaysia)

IEIP-E

IEI Poster session-E NFKB, STAT

Friday March 22, 2024

ENG

13:30-15:00 (Terrace Room)
Chair: Intan Hakimah Ismail (Universiti Putra Malaysia)
森谷 邦彦 /Kunihiko Moriya ( 防衛医科大学校 /National Defence Medical College)

IEIP-E-1

Efficacy of tocilizumab in the treatment of STAT3 GOF disease

Meiping Lu(Zhejiang University
Children’s Hospital)

IEIP-E-2

A Teenage Girl with Severe Tuberculosis Complicated withAspergillosis and Candidiasis

Fahreza Aditya Neldy(Universitas
Indonesia)

IEIP-E-3

Vast yet naïve. BENTA disease, an unusual presentation of extensive Kent Mun Loh(KK Women's andChildren's Hospital)
lymphoproliferation with CARD11 gain-of-function mutation.

IEIP-E-4

A unique clinical phenotype of IKBKG (nuclear factor-κB essential Lin Lin Liu(Beijing Children's Hospital)
modulator) mutation presenting as severe central nervous system
Aspergillus terreus infection

IEIP-E-5

CARD9 deficiency with allergic bronchopulmonary aspergillosis(ABPA)-like presentation: a case report

IEIP-FIEI Poster session-F

Friday March 22, 2024

Mohammadreza Shafiei(Alborz
University)

CGD, LAD, general

ENG

13:30-15:00 (Terrace Room)
Chair: Vignesh Pandiarajan (PGIMER)
山田 雅文 /Masafumi Yamada ( 酪農学園大学 /Rakuno Gakuen University)

IEIP-F-1

INFANT WITH CHRONIC GRANULOMATOUS DISEASEASSOCIATED INTESTINAL PERFORATION: A NEW
ASSOCIATION?

Rajkumar Kundavaram(All India Institute ofMedical Sciences)

IEIP-F-2

A zebra or a unicorn- a Chinese boy with McLeod Phenotype
Chronic Granulomatous Disease

Ki Crystal LAm(QMH)

IEIP-F-3

An interesting case of CYBB mutation in a Malay boy with normalmaternal DHR oxidation test and matched mother-child HLA
haplotype

Wan Fadhilah Wan Ibrahim(Universiti Putra

IEIP-F-4

Targeted next-generation sequencing reveals a novel variant
in FERMT3 gene in a young girl with recurrent infections andepistaxis

Amit Kumar(PGIMER)

IEIP-F-5

Genomic approach to diagnose Primary Immunodeficiency
Diseases (PIDs) in Bangladeshi Children

IEIP-F-6

Paediatric Immunologists' Perspectives on Haematopoietic Stem
Cell Transplantation (HSCT) for Primary Immunodeficiency
Diseases (PID) in Malaysia- 19 -

Malaysia)

Sudipta Roy(Ad-Din Medical College
Hospital)

Mohammad Shukri Khoo(The National
University of Malaysia)