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RationaleGenetic testing can reveal a molecular diagnosis in 20–40% of patients with inborn errors of immunity (IEI) such as predominantly antibody deficiencies (PAD), though this varies by IEI type and other factors. ...

IntroductionChronic spontaneous urticaria (CSU) is a clinical diagnosis managed according to American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) guide...

S-adenosylhomocysteine (SAH) hydrolase deficiency is a rare autosomal recessive disorder caused by pathogenic variants of the gene AHCY. Loss of SAH hydrolase causes SAH accumulation and impairs the methionine/S-adenosyl...

BackgroundSolid organ transplantation is an effective treatment for end-stage organ diseases, including renal, hepatic, cardiac, and pulmonary failure (1). Long-term graft survival depends on sustained immunosuppression;...

The rapid annual increase in conditions classified as inborn errors of immunity (IEI), along with associated genetic variants, creates diagnostic challenges. The comprehensive nature of exome sequencing (ES) and genome s...

BackgroundEstrogen receptor (ER)-low human epidermal growth factor receptor 2 (HER2)-negative breast cancer shares similar pathological and molecular features with triple-negative breast cancer, yet the utility of the 21...

BackgroundSevere combined immunodeficiency (SCID) is a life-threatening condition that requires urgent medical attention. Newborn screening (NBS) using the T cell receptor excision circle (TREC) assay facilitates early d...

BackgroundGATA2 deficiency results from heterozygous pathogenic variants in the GATA2 gene, which encodes a zinc-finger transcription factor essential for hematopoietic stem and progenitor cell development. It is a highl...

Background and AimsAcquired immunodeficiency in patients with hematological oncology is a serious and common complication, significantly impacting prognosis and quality of life. High doses of cytostatic drugs and the mal...

BackgroundAllergic rhinitis (AR) involves Th2/Th17 immune dysregulation and nasal epithelial barrier dysfunction; however, the molecular mechanisms linking these processes remain unclear.ObjectiveHere, we investigated wh...

Atypical CD21low B lymphocytes are a naturally occurring transient subset that has been increasingly recognized in chronic diseases, such as infections and immune dysregulation, where they may persist for long. Their fat...

IntroductionComplement C2 deficiency is a classical pathway defect associated with recurrent infections and autoimmunity. This case demonstrates the need for increased awareness amongst rheumatologists for the indication...

DNA ligase IV (LIG4) is essential for repairing breaks in double-stranded DNA via nonhomologous end-joining in developing lymphocytes and is particularly important for V(D)J recombination. First described in the early 20...

Background and AimsPediatric lymphoproliferative disorders (LPD), both malignant and nonmalignant, may conceal underlying inborn errors of immunity (IEI), yet systematic screening is rarely performed. We hypothesized tha...

L-arginine (ARG) availability is a critical determinant of macrophage antimicrobial capacity, as it fuels nitric oxide production and other immune effector pathways essential for restricting Mycobacterium tuberculosis (M...

IntroductionThe MIRACLE Task Force is a multidisciplinary, multi-institutional work group comprising immunology, genetics, obstetrics/gynecology, and maternal fetal medicine providers dedicated to understanding reproduct...

BackgroundSepsis is a life-threatening syndrome caused by a dysregulated host response to infection and is associated with high mortality in intensive care units. Septic cardiomyopathy (SCM) is a frequent and severe comp...

BackgroundNewborn screening for severe combined immunodeficiency (SCID) using T cell receptor excision circles (TRECs) enables early detection of disorders affecting T cell development. While low TRECs typically indicate...

BackgroundT cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiency (SCID) has improved early diagnosis, treatment, and survival of SCID infants and identified additional c...

Obinutuzumab is a humanized type II anti-CD20 monoclonal antibody with enhanced antibody-dependent cellular cytotoxicity. It is widely used in B-cell malignancies and is increasingly being explored in autoimmune diseases...

Chronic inflammation is a hallmark of many diseases, including persistent viral infections. In human immunodeficiency virus (HIV) infection, sustained immune activation contributes to end-organ damage and non-AIDS comorb...

IntroductionSalmonella enterica serovars Typhi and Paratyphi A cause millions of cases and thousands of deaths annually, predominantly affecting children in South and Southeast Asia. Following the licensure and World Hea...

IntroductionThe emergence of immune-evasive SARS-CoV-2 variants has exposed limitations in the breadth and durability of protection conferred by current Spike-based vaccines, highlighting the need for next-generation app...

BackgroundBehçet’s disease is a multisystem inflammatory disorder whose diagnosis can be challenging due to overlapping features with other inflammatory conditions and primary immunodeficiencies (1). In patients with ...