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Inborn errors of immunity (IEI) can manifest with neurological disorders, indicating genetic overlap between immune and nervous system diseases. However, neurological disorder genes are rarely screened systematically for...

ObjectiveEarly recognition of inborn errors of immunity (IEI) is critical to avoid morbidity and irreversible organ damage. Jeffrey Modell Foundation (JMF) warning signs have long guided and still guide clinical suspicio...

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...

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...

IntroductionAlthough immune responses to Bacillus Calmette–Guérin (BCG) vaccination and susceptibility to mycobacterial infection vary across individuals, the underlying cellular mechanisms regulating this heterogenei...

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...

Inborn errors of immunity (IEI) are increasing in number, and prompt recognition and diagnosis remain a challenge for clinicians. Use of machine learning (ML) for clinical pattern recognition is promising but has been li...

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...

MYB is a transcription factor and master regulator of hematopoiesis with a central role at multiple stages of B and T cell development. We identified ten heterozygous germline MYB variants in seven families and four unre...

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...

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...

Primary immune regulatory disorder (PIRD) is a subset of inborn errors of immunity (IEIs) caused by disruption of genes involved in regulating the immune response. PIRDs are predominantly characterized by dysregulated im...

Background22q11.2 deletion syndrome (DS) is the most common chromosomal microdeletion syndrome and a leading cause of developmental delay, congenital heart disease, and varying degrees of T cell immunodeficiency. While m...

IntroductionThe United States Immunodeficiency Network (USIDNET) collects de-identified patient data from hospitals across the country to study inborn errors of immunity (IEI). The registry contains records on >6,000 pat...

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...

X-linked inhibitor of apoptosis (XIAP) is essential for innate and adaptive immune responses, including programmed cell death inhibition, NFkB and MAPK activation, NLRP3 inflammasome activity regulation, and TNFR signali...

Galactosemia involves different forms of inborn errors of metabolism affecting galactose processing. Different from type 1 and type 2, respectively, related to GALT and GALK1 defects, type 3 galactosemia is due to bialle...

Materias / palabras clave: inborn errors of immunity, clinical phenotypes, infections and auto-antibodies, phenocopies of inborn errors, severe immunodeficiencies, t cell deficiencies; Medicine: Internal medicine: Specialties of internal medicine:...