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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)...

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 ...

BackgroundThe cytotoxic T lymphocyte-associated protein 4 (CTLA-4) is a well-known immune checkpoint inhibitor. Heterozygous germline mutations in CTLA4 in humans lead to immune deficiency, autoimmunity, auto-inflammatio...

NCKAP1L encodes hematopoietic protein-1 (HEM1), a component of the WASp family verproline-homologous protein (WAVE) actin regulatory complex, activated downstream of multiple immune receptors. HEM1 deficiency disrupts WA...

While studying familial celiac disease, we identified four individuals with a rare heterozygous loss-of-function variant in the highly conserved, early-evolved ABCF1 gene. In addition, the 246 individuals heterozygous fo...

X-linked agammaglobulinemia (XLA) is an inherited inborn error of immunity caused by low or absent Bruton tyrosine kinase activity, resulting in impaired B cell development, poor immunoglobulin production, and severe, re...

IntroductionSTING-associated vasculopathy with onset in infancy (SAVI) is a rare, severe type I interferonopathy caused by gain-of-function mutations in STING1, leading to early-onset systemic inflammation, cutaneous vas...

Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive combined immunodeficiency marked by severe atopy, recurrent viral and bacterial infections, high immunoglobulin E, eosinophilia, and lymphopenia...

IntroductionVaginal seeding has been proposed to restore the microbiome of babies born via caesarean section, but the associated risk of infection is unknown. We present the first case of disseminated candidiasis after v...

Genetic alteration of the genes of cytoskeletal regulatory proteins (e.g., actin-related protein complex-1 [ARPC1]) results in severe immune and hematological defects. ARPC1B deficiency (ARPC1BD) is an immune-actinopathy...

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...

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...

BackgroundPhosphoinositide 3-kinase δ (PI3Kδ) is a lipid kinase that is composed of a catalytic subunit (p110δ, PIK3CD) and a regulatory subunit (p85, PIK3R1) and mediates signal transduction downstream of multiple im...

Immune dysregulation can lead to autoimmunity and autoinflammation. The goal of treatment is to balance targeted therapies while avoiding infections or other side effects, which becomes complicated with multiple diagnose...

IntroductionCGD is an inborn error of immunity that results in severe, recurrent bacterial and fungal infections, immune dysregulation, and chronic inflammation. Profiling the cytokine signature in CGD patients may infor...

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...

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED/APS-1) is a monogenic disorder of failed central tolerance caused by deleterious variants in the autoimmune regulator (AIRE) gene. Interferon-γ-driv...

BackgroundThymoma, a neoplasm of the thymus, leads to hypogammaglobulinemia in ∼10% of affected patients, resulting in Good syndrome that frequently coexists with autoimmunity and mucosal candidiasis. Thymomas lose the...

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...

We performed a single-center retrospective analysis of chronic granulomatous disease (CGD) autopsy reports to better understand causes of death, end-organ damage, and disease pathophysiology. Forty-four autopsies of CGD ...

CTLA4 haploinsufficiency is caused by mutations in the CTLA4 gene. The loss of this important immune checkpoint leads to uncontrolled production of lymphocytes, causing infiltration of T cells into multiple organs (gastr...

BackgroundGranulomatous-lymphocytic interstitial lung disease (GLILD) is a noninfectious interstitial lung disorder characterized by granulomatous inflammation and lymphoid proliferation. It is most frequently identified...

IntroductionReceptor-interacting serine/threonine-protein kinase 1 (RIPK1), a cytosolic protein, plays an essential role in signaling pathways responsible for inflammation and programmed cell death. In humans, two main c...

BackgroundGranulomatous-lymphocytic interstitial lung disease (GLILD) is a major cause of morbidity and mortality in common variable immunodeficiency (CVID), yet its pathophysiology remains incompletely understood, and n...