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BackgroundAlthough drug rash with eosinophilia and systemic symptoms (DRESS) and anticonvulsant hypersensitivity syndrome are well-known complications of anti-seizure medications (ASMs), lesser-known immunologic complica...

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...

IntroductionHyperinflammatory and hemophagocytic lymphohistiocytosis (HLH)-like presentations are increasingly recognized as clinical “red flags” for inborn errors of immunity (IEI), including severe combined immunod...

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...

BackgroundProgressive multifocal leukoencephalopathy (PML) is a rare opportunistic brain infection caused by the JC virus, and idiopathic PML is increasingly recognized. Deeper profiling of such patients often reveals oc...

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...

BackgroundAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inborn error of immunity caused by loss-of-function of the AIRE gene. Lack of AIRE impairs thymic negative selection of T cells, cau...

IntroductionTrogocytosis is an intracellular transfer of membrane and membrane-associated proteins in a cell–cell contact manner. Trogocytosis plays an important role in immune regulation. We hypothesized that trogocyt...

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...

BackgroundPediatric utilization of rituximab encompasses autoimmune, renal, hematologic, and neurologic conditions. Its association with secondary hypogammaglobulinemia and unmasking of inborn errors of immunity is well ...

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...

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...

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...

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...

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...

Materias / palabras clave: genetics, inborn errors, biochemics, molecular genetics, inherited metabolic disorders; Medicine: Internal medicine: Specialties of internal medicine: Diseases of the endocrine glands. Clinical endocrinology; Science: Bi...