Introductory Remarks by the Chairman of the 2025 IEI School of APSID and Genetics and Genomics Working Party Chair of APSID

Introductory Remarks by the President of APSID

Introductory Remarks by the Education and Training Working Party Chair of APSID

Atypical Kawasaki Illness: Unraveling an Underlying Immunodeficiency

What Treatment Should be Used in a Patient with Chronic Mucocutaneous Candidiasis?

Eczema, Dysmorphism and Pneumatoceles

Which STAT-related Diseases Require Hematopoietic Stem Cell Transplantation?
Which STAT-related Diseases Require Hematopoietic Stem Cell Transplantation?

A Tale of Two Brothers
A Tale of Two Brothers

What Treatment Should Be Used as Bridging Before Hematopoietic Cell Transplantation for STAT1 Gain-of-function?
What Treatment Should Be Used as Bridging Before Hematopoietic Cell Transplantation for STAT1 Gain-of-function?

What to Do If the Patient Is Suspected to Have DiGeorge Syndrome in Kazakhstan?
What to Do If the Patient Is Suspected to Have DiGeorge Syndrome in Kazakhstan?

Malignancy in Primary Inborn Error of Immunity
Malignancy in Primary Inborn Error of Immunity

Unravelling Erythroderma in Neonates
Unravelling Erythroderma in Neonates

Combined Immunodeficiency: How to Choose Between Conservative Treatments, Gene Therapy, or Hematopoeitic Stem Cell Transplantation?
Combined Immunodeficiency: How to Choose Between Conservative Treatments, Gene Therapy, or Hematopoeitic Stem Cell Transplantation?

Light in the Fog: Exploring the Diagnosis and Treatment of a Rare Immunodeficiency-Related Ocular Disease
Light in the Fog: Exploring the Diagnosis and Treatment of a Rare Immunodeficiency-Related Ocular Disease

Cohort with Rare Combined Immunodeficiency with Autoinflammation from Resource-limited Settings: A Story of Exploring Founder Gene Effect
Cohort with Rare Combined Immunodeficiency with Autoinflammation from Resource-limited Settings: A Story of Exploring Founder Gene Effect

Mutation at a Novel Gene Site and the Phenotypic Findings in a Case of Combined Immunodeficiency and Cardiomyopathy
Mutation at a Novel Gene Site and the Phenotypic Findings in a Case of Combined Immunodeficiency and Cardiomyopathy

What We Knew, and What Is New?
What We Knew, and What Is New?

Management Strategies for Gain-of-Function Innate Immune Defects besides HSCT/Cellular Therapies

Recurrent BCG Abscesses and Severe Immunodeficiency in a 2-Year-Old Girl

Refractory Mediastinal Purulent Lymphadenitis-associated Chronic Mucocutaneous Candidiasis

An Adolescent Girl with Recurrent Respiratory Tract Infections and Bronchiectasis

Unraveling a Mystery: Recurrent Streptococcus pyogenes Septicemia in an 11-Year-Old with Congenital Lymphedema

Immune Tests for Clinicians: From Basic to Advanced

Immune Tests on the Horizon: From Research to Diagnostic Pipelines

Immune Dysregulation in Inborn Errors of Immunity: Targeted Treatment Approaches and Possible Pitfalls

10-year-old Female Patient Presenting with Alopecia Totalis

Think Early and Act Fast: Pyrexia of Unknown Origin in a Young Infant Could be an Inborn Error of Immunity

A Child with Lymphoproliferation and Fever: A Diagnostic Challenge

Unmasking an Unusual Immunodeficiency Presenting with Meningoencephalitis and Hemophagocytic Lymphohistiocytosis

Type I Interferon Signature in Autoinflammatory Diseases

Recurrent Oral Infections, Otitis, Sinusitis, Pneumonia, and Chronic Diarrhea in a 13-Year-Old Boy

Arthritis and Rashes: A Case Study

The Hidden Peril of Dual Immune Disorders: A Diagnostic and Therapeutic Challenge

Panniculitis and IgA Deficiency in a 6-Year-Old Girl with Polyarthritis

Primary Immunodeficiency Diseases Are not Only Diseases of Children

Thymoma-associated Immunodeficiency: A Case Report from Vietnam

Sarcoidosis-associated Immunodeficiency

Advanced Therapies for Inflammatory Bowel Disease Due to Inborn Errors of Immunity

Diarrhea Caused by an Inborn Error of Immunity: What to Assess and How to Treat?

When EBV-Associated Visceral Tumors Meet IBD: Rare Etiological Links in Dual Pathological Manifestations

Introductory Remarks by the President of the Beijing Children’s Hospital of Capital Medical University

Introductory Remarks by Chairperson of the Department of Paediatrics and Adolescent Medicine of The University of Hong Kong

Introductory Remarks by the President of APSID

Mendelian Disease Discovery: From Inherited Skin Conditions to Inborn Errors of Immunity

X-Linked Agammaglobulinemia, the Oldest Primary Immunodeficiency/Inborn Error of Immunity, Yet Still Reluctant to Reveal Its Secrets

Improving Patient Care and Treatment through the Primary Immunodeficiency Registry in Malaysia

Epidemiology of Primary Immunodeficiency Identified from the Korean Immunodeficiency Network (KiNET) and Registry Project

CCL2: Old Molecule as a Novel Candidate for Mendelian Susceptibility to Mycobacterial Disease

Respiratory Syncytial Virus Infection and Immunodeficiency

PTPN2 Deficiency Modulates STAT3 Signaling and Induces Muscle Damage in Juvenile Dermatomyositis

Hematopoietic Stem Cell Transplantation for Children with Leukodystrophy: A Single Center Retrospective Study

Newborn Screening of IEI in China

Mild Wiskott-Aldrich Syndrome: Does It Exist? And How Should We Treat It?

Efficacy Analysis of Hematopoietic Stem Cell Transplantation in 16 Cases of Wiskott-Aldrich Syndrome during Infancy

A New Technique of Manipulation in Haploidentical Transplantation: Report of a Single Center Group of Patients with Primary Immunodeficiencies

Type-1 Interferonopathy

Early Diagnosis through Artificial Intelligence in Inborn Errors of Immunity

The Response to Abatacept Therapy in Children with Immune Dysregulation Syndromes - T-regopathies (LRBA and CTLA4 Deficiencies)

Barriers and Challenges to Healthcare Access in Patients with Primary Immunodeficiency Diseases: A Phenomenological Qualitative Study

Hyper IgM Syndromes: Whom to Blame, B cells, T cells, or Other Players?

Poliovirus Excretion Among Patients with Primary Immunodeficiency Disorders (Format: Virtual)

Poliovirus Surveillance Among Patients with Primary Immunodeficiency Disorders

The New Generation of "Immunoglobulin G" in Rheumatic Immune Disease

解锁儿童血管炎临床诊疗前沿进展与临床实践

Gene Therapy and Enzyme Replacement Therapy for Inborn Errors of Immunity Around the World and What Lies Ahead for the Asia Pacific?

First Results of Neonatal Screening Utilizing TREC/KREC in Russia: Statistics and Treatment Outcomes

Two Cases of Combined Immunodeficiency with ITPR3 Mutations Presenting with Life-Threatening Severe EBV-Associated Hemophagocytic Lymphohistiocytosis

Novel Gene Causing Severe Congenital Neutropenia

A Girl with Ipsilateral Temporal Atrophy - A Case of Parry-Romberg Syndrome in Korea

Homozygous p.Arg90His of NCF1 in a Twin-Sister Presenting as Mixed Connective Tissue Disease

Clinical Study Driven by the Diagnosis and Treatment of Patients with Rheumatic Diseases

A Rare Case of Combined Immunodeficiency with Immune Dysregulation in a 4-Month-Old Infant (Cancelled: Speaker unable to attend)

Severe COVID-19 Infections in Three SAMD9 (MIRAGE) Patients

Crescentic Glomerulonephritis in a 6-Year-Old Boy Leading to the Diagnosis of X-Linked Agammaglobulinaemia

Encephalitis due to Enterovirus in XLA Patients: Challenges in Diagnosis and Treatment

PER1 Plays a Pivotal Role in the Pathogenesis of Patients with STAT1 Gain-of-Function Mutations

Potential Relation Between a Novel Variant of FAM111A Gene and KCS2-like Syndrome

A Study of Knowledge, Attitude and Perception of Knowledge Gap in Expanded Newborn Screening Among Medical Practitioners in Universiti Sains Malaysia

Challenges and Community-directed Interventions for Immunodeficiencies in Underdeveloped and Resource-constrained Settings

Pioneering New Avenues in Immunological Diagnostics for Severe Combined Immunodeficiency Using LySIM Technology

Evaluation of Immune Reconstitution in Post-Haploidentical Haematopoietic Stem Cell Transplant (HSCT) in Hong Kong children

IEI And Nocardia: An Ignored Association

Clinical and Laboratory Profile in the Different Types of Primary Immune Deficiency Disorders (PIDs) in Children

Infantile Monogenic IBD: A Case Series

The Distribution Differences of Platelet-specific Antibodies in Children with Immune Dysregulation Type IEI Presenting with Immune Thrombocytopenia as the Initial Manifestation

Early Tocilizumab Intervention in Systemic JIA-Associated Macrophage Activation Syndrome: Therapeutic Outcomes and Predictors of Response from a Real-World Cohort Study

Good Syndrome: Not So Good After All

Arrested Maturation, Reduced Motility or Abnormal Function - Study of Patients with Neutrophil Defects from a Center in Western India

B-lymphocyte Abnormalities in Patients with Chronic Granulomatous Disease

TACI and BTK Gene Analysis in Predominantly Antibody Deficiency Disorders Among the Primary Immunodeficiency Disorder Patients in Bangladesh

Transcriptome Analysis Reveals Immune Dysregulation in Neutrophils and Whole Blood in Patients with Common Variable Immunodeficiency

Bronchiectasis in Inborn Errors of Immunity

Central Nervous System Involvement in X-Linked Lymphoproliferative Syndrome Type 1

A De Novo NFKBIA Mutation Mimicking Features of SCID and Wiskott-Aldrich Syndrome: A Diagnostic Challenge

Vitiligo, Cytopenias and More: Autoimmunity Dominates in RAG1 Deficiency

A Complex Heterozygous Mutation in RAG2 Causes Severe Combined Immunodeficiency: A Case Report

Successful HSCT Reverses Portal Hypertension and Hypercalcemia in Infant with Chronic Granulomatous Disease and Disseminated Fungal Infection After Vaginal Seeding

Persistent Herpetic Infections in a Patient with DOCK8 deficiency

Clinical Features of Leukocyte Adhesion Deficiency-1 with Compound Heterozygous Mutation

Compound Heterozygous Mutations in LIG4 Gene in a Malay Boy with Severe Microcephaly and Cytopenia

Fatal Co-Infections of Burkholderia Pseudomallei and Aspergillus in a Boy with Chronic Granulomatous Disease

Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome: A Case Report

Cutaneous Ulceration Syndrome with Recurrent Organ Abscesses in a Child with TNFAIP3 Mutation: Diagnostic and Management Challenges

A Cyclic Neutropenia Patient with ELANE Mutation Accompanied by Hemophagocytic Lymphohistiocytosis

Heterozygous Out-of-frame Frameshift Mutation in ELANE without Evidence of Neutropenia

The First Case of Disseminated BCG Infection in an IL-12R β1 Deficiency Korean Boy

Vasculitis as a Clue to IL12RB1 Deficiency in Mendelian Susceptibility to Mycobacterial Disease

Henoch-Schoenlein Purpura (HSP)-like Lesions in IL12RB1 and IL12B Defects - Our Experience from North India

Case Report of Tuberculous Lymphadenopathy in a Patient with Congenital Immune Deficiency

Genetic Analysis and Clinical Presentation of Autosomal Recessive Hyper-IgM Syndrome: A Case Study

Mycoplasma Pneumoniae Arthritis in X-Linked Hypogammaglobulinemia (XLA)

A Case of X-Linked Thrombocytopenia and Suspected IgA Nephropathy – Not as Benign as We Think

Activated Phosphoinositide 3-kinase Delta Syndrome (APDS) Presenting as an Early Onset Malignancy

A Classic Case of Hyper IgE Syndrome

Diagnostic Complexities, Hyper-IgE Syndrome Associated with a STAT3 Mutation: A Clinical Case

Inborn Errors of Immunity in Interleukin-6 Cytokine Family Signalling

Genetic Mutations in Pediatric Patients with Inflammatory Bowel Disease

Comprehensive Genetic and Immunological Analyses Reveal the Involvement of Inborn Errors of Immunity in Pediatric IBD: A Japanese Multicenter Study

The Mechanism of a Novel Variant in TCIRG1 on Mouse Model of Infantile Malignant Osteopetrosis

Somatic Mutations in Autoinflammatory and Autoimmune Diseases (Format: Virtual)

JAK Inhibitor Treatments for Inborn Errors of Immunity

Screening Programme Providing Outreach for Testing Hereditary Angioedema (SPPOT-HAE): Validation and Utilizing Dried Blood Spots for Family Screening

Combined Immunodeficiency Caused by PTPRC Mutation

A Multi-omics Understanding of Thymus Development and Function

The Potential Applications of Extracellular Vesicles in Inborn Errors of Immunity

Inborn Errors of Immunity in the Himalayan Region – A Multi-center Study

Transcriptional Regulatory Mechanism of Autoimmunity Promoted by STAT1-GOF Mutation

Management of Inflammasomopathy

Deficiency of Adenosine Deaminase 2: Consensus and Controversies in 2025

Unraveling the Genetic Landscape of Early-Onset Systemic Lupus Erythematosus in India: Insights from a Large Cohort Study of 365 Patients

Effectiveness of Sirolimus in Early On-Set Autoimmune Cytopenias of Autoimmune lymphoproliferative immunodeficiencies (ALPIDs)

What's New on Monogenic Vasculitis? (Format: Virtual)

Unlocking the Frontier Progress and Clinical Practice of Clinical Diagnosis and Treatment of Pediatric Vasculitis (Language: Chinese)

Centralized Rare Disease Diagnosis Service and Decentralized Product Solution for Screening Applications (Language: Chinese)

Changing the Outcome of Disease Treatment and Opening a New Chapter in Childhood Lupus Disease Modification (Format: Virtual)

Good Is Bad: Repeated Infections and Intrathoracic Mass in a 44-Year-Old Woman (Format: Virtual)

A Journey Beyond the Conventional for a Patient's Chronic Gastrointestinal Inflammation (Format: Virtual)

Management of IgG4-related Diseases

Cryopyrin-associated Periodic Fever Syndrome in Japan

Genetically Defined Systemic Autoinflammatory Diseases in Pediatric Patients with Behçet's Disease

Monogenic Pediatric Systemic Autoinflammatory Diseases in Nepal-Maiden Himalayan Cohort

The Role of Innate Immunity in Pediatric Neurological Disorders

Severe Combined Immunodeficiencies Due to Defects in V(D)J Recombination

Implementation of a Territory-wide Newborn Screening Program for Severe Combined Immunodeficiency in Hong Kong: Experience from Our 3-year Program

Developing Laboratory Support for the Diagnosis of PIDs in Bangladesh: Past, Present and Future

Monogenic Lupus

Current Therapeutic Approaches to Activated PI3K Delta Syndrome (APDS)

Type-1 Interferon Signature in Patients with Chronic Granulomatous Disease

The Efficacy of Dupilumab in Treatment of Atopic Dermatitis in Children with STAT3-loss-of-function Hyper-immunoglobulin E (STAT3-HIES) Syndrome

Ataxia, Infections, Autoimmunity, Neoplasms - Varied Clinical Manifestations of Patients With Ataxia Telangiectasia from a Center in Western India

Clinical and Genetic Features of UNC13D Deficiency with Hypogammaglobulinemia

A Clinico-Molecular Profile of Patients with X-Linked Chronic Granulomatous Disease: Our Experience At Chandigarh, North India

A Novel CEBPE Variant Associated with Severe Infections and Profound Neutropenia

The Clinical and Immunological Characterization of Three Patients with NFKBIA Mutations

Clinical and Immunological Profile of patients with Mendelian Susceptibility to Mycobacterial Diseases: Our Experience from North-West India

Development of Thymic Output Assay Using Flow Cytometry

Immunological characteristics of children who suffered community-acquired necrotizing pneumonia

Estimation of Anticytokine Antibodies in Patients with Recurrent, Severe or Atypical Infections

Immunogenicity of a Fourth Dose of COVID-19 Vaccine in Individuals with Inborn Errors of Immunity

Novel Compound Heterozygous Mutations in CARD11 Underlie Primary Immunodeficiency with Atopy

Immunoglobulin Replacement or Vaccination? Management of IGLL1-Defects in A Large Paediatric Cohort Detected Via Newborn Screening (NBS) Using TREC/KREC Testing

Development and Validation of SYBR Green-Based qPCR Assay in STAT3 Mutation Screening: A Diagnostic Accuracy Study

STAT3 Loss of Function in Hyper IgE Syndrome: Molecular Insight into Bone Dysregulation

Determining the Digenic Effects of STAT1 and STAT5B Variants on Immune Function and Skin Disorders

Immunophenotype of IKZF1 Haplodeficiency Patient Presenting as Systemic Lupus Erythematosus

RasGRP1 Mutation Cause Lupus-like Autoimmune Features

Characterisation and Diagnostic Model of Monogenic Lupus

Understanding the Molecular and Immune Mechanisms Underlying Deficiency of Adenosine Deaminase Type 2 (DADA2) Using RNA Sequencing

Bidirectional Causal Relationships Between Intestinal Microbiota and Juvenile Idiopathic Arthritis: Insights from Mendelian Randomization

Efficacy and Safety of Bisphosphonates in Pediatric Glucocorticoid- Induced Osteoporosis: A Meta-Analysis and Pharmacovigilance Study

Clinical Features and Novel Pathogenic Variants of Patients with Behçet’s Disease-like Trisomy 8

Severe Phenotype of Wiskott-Aldrich Syndrome Due to C-terminal Variant in WASP

Recurrent Perianal Ulceration in Siblings with CD40LG Mutation: Case Report

T-cell Deficiency in a Wolf-Hirschhorn Syndrome Baby, Presenting with HSV Encephalitis

The First Case of MHC Class II Deficiency Treated with Unrelated Mismatched Cord Blood Transplantation In Vietnam

Clinical and Immunological Analysis of a Novel BCL10 Protein S/T Domain Truncation Mutation in a Patient with Partial Combined Immunodeficiency

A Heavy Heart: Delayed Diagnosis of X-linked Agammaglobulinaemia with Porcelain Aorta

Differential Responses to Sirolimus and Leniolisib in an APDS Patient: Clinical and Transcriptomic Insights

BCGitis and Atypical Salmonella Infection in Four Patients with Mendelian Susceptibility to Mycobacterial Disease: Case Reports

First Case of STAT3 Mutation-Associated Hyper-IgE Syndrome in an Infant from Central Vietnam: Diagnosis and Management

A Case of Immunodysregulatory Disease due to Functional Acquired Mutation in STAT3 Gene

The Imbroglio of Immune Thrombocytopenia in a Challenging Case of Chronic Granulomatous Disease

A Case Study of a Baby Girl with Chronic Granulomatous Disease Due to NCF1 Mutation: Treatment Outcome with Pioglitazone

Ecthyma Gangrenosum in a Previously Healthy Boy Disclosing an Underlying Cyclic Neutropenia

Complex Inflammatory Bowel Disease in a Child with Leukocyte Adhesion Deficiency Type 1: A Case Report

Eleven Cases of Autoinflammatory Recurrent Fevers

Infant with Autoimmunity, Recurrent Infections and Hypotonia - An Interesting Case of A PID with Channelopathy

A Novel TRNT1 Gene Variant Causing SIFD Syndrome in a Child

IL12RB1 with ALPS-like Phenotype

ADA1 Deficiency: A New Genetic Cause of Monogenic Lupus

Effective Treatment of Intractable Diarrhea and Alopecia in Two Cytotoxic T Lymphocyte Antigen-4 Haploinsufficiency Patients with Abatacept Therapy

Pediatric Case of Immune-mediated Necrotizing Myopathy Associated with Anti-HMGCR Antibodies: Multi-target Therapy and Long-term Follow-up

Report of 3 Cases of Dyskeratosis Congenita and Literature Review