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