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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...

We present the case of a 43-year-old male who presented to pulmonology with 3 years of chronic cough and recurrent sinopulmonary infections. He was diagnosed with bronchiectasis and found to have mild thrombocytopenia an...

IntroductionIncreased risk of infections in patients with hematological malignancies (HM) is a growing concern. Immunoglobulin-replacement therapy (IgRT) is used to reduce infection risk in patients who develop secondary...

BackgroundMutations in the regulator of telomere elongation helicase 1 (RTEL1) gene cause excessive telomere shortening, leading to bone marrow failure, dyskeratosis congenita, pulmonary and liver fibrosis, and, in some ...

Interferonopathies are rare autoinflammatory disorders driven by a constitutive upregulation of the type I interferon (IFN-I) pathway, leading to chronic activation of this cytokine. Despite advances, direct IFN-I measur...

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...

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...

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...

BackgroundX-linked inhibitor of apoptosis protein (XIAP) deficiency is a rare genetic disorder caused by pathogenic variants in the XIAP gene. It disrupts TNF-receptor signaling and NLRP3 inflammasome function, leading t...

BackgroundRegulator of telomere elongation helicase 1 (RTEL1) is a gene that encodes a DNA helicase crucial for DNA repair and telomere maintenance. It belongs to a family of genes associated with telomere biology disord...

Serum sickness is an immune complex-mediated hypersensitivity reaction, classically manifested by the triad of fever, rash, and arthralgias. It results from the formation and deposition of antigen–antibody complexes, l...

IntroductionHyperuricemia, pulmonary hypertension, renal failure, alkalosis (HUPRA) syndrome is a mitochondrial disease caused by mutations in SARS2 (seryl-tRNA synthetase 2), which plays a role in protein synthesis. Lim...

IntroductionThe T cell receptor excision circle (TREC) assay is an effective neonatal screening tool for severe combined immunodeficiency (SCID), enabling early diagnosis and timely intervention. While genetic analysis o...

A 12-day-old full-term (FT) male presented with one day of diarrhea and respiratory distress. The exam was notable for hypothermia, tachycardia, and hypoxemia. Initial bloodwork showed leukopenia (3,400 cells/uL, absolut...

Hoyeraal-Hreidarsson syndrome (HHS) represents the most severe form of dyskeratosis congenita (DC), a telomere biology disorder caused by pathogenic variants in genes involved in telomere maintenance. DKC1 encodes dysker...

CD40L-deficient X-linked hyper IgM (XHIGM) syndrome is characterized by defective B cell class switching, deficiency of immunoglobulins G, A, and E, plus other immune abnormalities due to disrupted CD40L–CD40 interacti...

IntroductionKabuki syndrome (KS) is a rare, complex, multisystem, neurodevelopmental congenital disorder with characteristic phenotypic anomalies and pathogenic genetic variants of the KMT2D or KDM6A genes. KS is highly ...

BackgroundIL-2Rβ (CD122) is essential for IL-2 and IL-15 signaling and for natural killer (NK) and T cell homeostasis. We and others have recently described biallelic loss-of-function IL2RB variants, primarily affecting...

We present the case of a 17-year-old male with a long-standing history of recurrent and persistent cutaneous abscesses beginning at 6 years of age. Lesions were widespread, affecting the scalp, trunk, buttocks, and extre...

Deficiency in ELF4, X-linked (DEX) is a monogenic autoinflammatory disorder caused by loss-of-function (LOF) mutations in the ETS transcription factor ELF4. This rare disorder primarily affects young, male patients due t...

IntroductionPediatric hemophagocytic lymphohistiocytosis (pHLH) is a life-threatening condition characterized by aberrant immunopathology and systemic manifestations. The HLH-2004 protocol prioritizes urgent immunosuppre...

IntroductionIndividuals with inborn errors of immunity (IEI) are increasingly reaching reproductive age, yet guidance on fertility preservation, genetic counseling, medication adjustments in pregnancy and breastfeeding, ...

The nuclear factor kappa light-chain enhancer of activated B cells (NFKB1) pathway is a central regulator of inflammatory gene expression. NFKB1 haploinsufficiency can present with common variable immunodeficiency (CVID)...

SASH3 deficiency is an X-linked combined immunodeficiency characterized by recurrent sinopulmonary, cutaneous, and mucosal infections, refractory autoimmune cytopenia, and immune dysregulation. We report here the first t...