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BackgroundAlthough the association between disorders of immunity and cancer risk is recognized, the prevalence of different malignancies in this population remains incompletely characterized. Large electronic health reco...

BackgroundRAS-associated autoimmune leukoproliferative disorder (RALD) is a rare immune-dysregulation syndrome caused by pathogenic mutations in RAS–MAPK pathway genes, most commonly KRAS. It is characterized by autoim...

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...

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...

Background and AimsThe primary focus of neonatal screening is the early detection of asymptomatic infants with a range of serious diseases for which effective treatment is available and for which early diagnosis and inte...

In the last decade, diagnostic detection of severe combined immune deficiency (SCID) has improved with the widespread implementation of universal newborn screening (NBS) for SCID in the United States. Our case identifies...

We report a previously healthy 4-year-old female presenting with a diffuse, recurrent, pruritic, erythematous rash involving the entire body with eight episodes over 2 years, each lasting 7–10 days. The rash reliably a...

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...

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 ...

BackgroundCommon variable immunodeficiency (CVID) is diagnosed at ages ≥4 years with hypogammaglobulinemia across more than two immunoglobulin classes, leading to impaired vaccine responses, frequent infectious, autoim...

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic disorder caused by loss-of-function mutations in the FOXP3 gene, which is critical for the development of functional regulato...

Since 2020, our clinic has observed a notable increase in primary immunodeficiency (PI) patients presenting with antibody deficiencies, despite previously reporting minimal illness or being clinically stable prior to the...

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 ...

BackgroundComplex inflammatory phenotypes in children can pose significant diagnostic challenges, particularly when clinical, histopathologic, and immunologic findings do not conform to established diagnoses. We present ...

Common variable immunodeficiency (CVID) is characterized by recurrent infections due to impairments in antibody quantity and quality. As such, immunoglobulin G replacement therapy (IgGRT) is the standard-of-care (SOC) fo...

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...

RNU4ATAC-opathies are genetic conditions that include growth restriction, skeletal dysplasia, and cognitive impairment. Historically, these have been divided phenotypically into microcephalic osteodysplastic primordial d...

BackgroundAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autoimmune disorder caused by mutations in the AIRE gene and is characterized by immune dysregulation with multi-organ...

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...

Patients with STAT1 gain-of-function (GOF) variants may present not only with chronic mucocutaneous candidiasis and other forms of immunodeficiency but also with a broad-spectrum of autoimmune manifestations, for which J...

BackgroundDown syndrome (DS) is associated with chronic hyperactivation of interferon signaling and downstream Janus kinase (JAK) and STAT pathways, contributing to increased susceptibility to autoimmunity, autoinflammat...

BackgroundT cell–mediated hepatitis is an uncommon cause of acute pediatric liver injury. Most patients respond to steroids, but management of refractory disease remains challenging. We describe four patients with non-...

BackgroundRecurrent bacterial pneumonia accompanied by atypical systemic findings may indicate an uncharacterized inborn error of immunity (IEI). We report a 10-year-old male with recurrent pneumonias, mildly low but fun...