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Abstract Serum free light chains (sFLCs) have recently been introduced as a diagnostic biomarker in common variable immunodeficiency (CVID) patients. Most patients with CVID have undetectable or lower levels of sFLCs com...

HELIOS is an IKAROS-family zinc-finger transcription factor that plays an important role in regulatory T cell function and conventional T cell homoeostasis. HELIOS shares a conserved N-terminal DNA-binding and C-terminal...

The United States Immunodeficiency Network (USIDNET) is a registry that collects de-identified patient data from hospitals across the country to study rare immune conditions, including inborn errors of immunity (IEI). Th...

Early diagnosis of primary immunodeficiency (PID) remains a significant clinical challenge, often delaying treatment and increasing the risk of severe infections. Accurate identification of antibody (Ab) deficiencies typ...

Common variable immunodeficiency (CVID) is a group of heterogeneous disorders with common denominators of impaired antibody production and function and recurrent infections. Currently, prognostic biomarkers for CVID are ...

BackgroundCommon variable immunodeficiency (CVID) is the most prevalent inborn error of immunity. Although CVID is most commonly diagnosed in adulthood, a subset of patients is diagnosed in childhood. Autoimmune and end-...

Dosing immunoglobulin G (IgG) replacement therapy in primary immunodeficiency disease (PIDD) depends on IgG pharmacokinetics (PK) and patients’ clinical status. Conventionally, PK data used to determine dosing were bas...

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...

Interferon regulatory factor-2-binding protein-2 (IRF2BP2) is a transcriptional regulator affecting diverse cellular functions, including cell differentiation and apoptosis. It plays an important role in lymphocyte and m...

Common variable Immunodeficiency (CVID) is a heterogeneous immunodeficiency characterized by hypogammaglobulinemia and immune dysregulation. In up to 30% of cases, there is a monogenic defect, with a fraction of these fa...

Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency and remains underdiagnosed in Brazil due to limited knowledge of its genetic landscape. Since 2024, the Centro Nacional d...

RationaleCommon variable immunodeficiency (CVID) is a chronic, multisystem immune disorder associated with substantial symptom burden beyond infections, particularly among individuals with noninfectious inflammatory comp...

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...

IntroductionInborn errors of interferon response factors (IRFs) are a subset of monogenic inborn errors of immunity, occurring as a result of damaging variants in the IRF genes. Of these diseases, IRF4 deficiencies are a...

IntroductionSporotrichosis is an uncommon but emerging opportunistic infection in immunocompromised patients. Primary pulmonary sporotrichosis can disseminate and result in significant morbidity and mortality, despite tr...

BackgroundLoss-of-function variants in magnesium transporter 1 (MAGT1) cause X-linked Immunodeficiency with Magnesium defect, Epstein-Barr virus infection, and Neoplasia (XMEN) disease through impaired glycosylation. The...

Heterozygous NFKB1 variants have been increasingly identified in patients with common variable immunodeficiency. These patients, however, often experience substantial immune dysregulation beyond humoral deficiency. NFKB1...

X-linked severe combined immunodeficiency (SCID-X1) presents as T-B+NK- SCID, due to mutations in the common γ chain (IL2RG/CD132), a shared component of several cytokine receptors. Without definitive therapy, SCID-X1 i...

BackgroundOn-demand gene editing of autologous cells offers a novel therapeutic option for inborn errors of immunity (IEIs) caused by dominant-negative variants, which are often poorly addressed by conventional viral gen...

BackgroundAsthma is traditionally conceptualized as a T helper 2 (Th2)-mediated inflammatory airway disease. However, increasing evidence suggests that primary immune dysregulation may underlie or phenotypically mimic as...

IntroductionNewborn screening (NBS) for severe combined immunodeficiency (SCID) leads to early diagnosis and hematopoietic cell transplant (HCT). Limited studies are available on the quality of life (QoL) of SCID patient...

ASCENIV is a 10% intravenous immune globulin (IVIG) indicated for the treatment of primary humoral immunodeficiency (PI) in adults and adolescents (12 to 17 years of age). ASCENIV contains a blend of normal source plasma...

IntroductionRituximab, an anti-CD40 antibody, is a commonly used B cell-depleting therapy. We present a case that illustrates the unveiling of an underlying common variable immune deficiency (CVID) after completion of ri...

Encephalitis in immunocompromised individuals presents a unique diagnostic and treatment challenge due to the interplay between infection and immune dysregulation.A 48-year-old male with a history of recurrent sinusitis ...