Christa S. Zerbe
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View article: Anti-interferon-γ Autoantibodies and Indeterminate QuantiFERONⓇ-TB Gold Plus Assays
Anti-interferon-γ Autoantibodies and Indeterminate QuantiFERONⓇ-TB Gold Plus Assays Open
Among 852 samples sent for QuantiFERON®-TB Gold Plus Assay (QFN) analysis, between 6% and 11% had IFNγ binding activity, but only 1.2% of indeterminate samples had IFNγ blocking activity. No TB negative samples had blocking activity to IFN…
View article: Tissue tropism and functional adaptation of the SARS-CoV-2 spike protein in a fatal case of COVID-19
Tissue tropism and functional adaptation of the SARS-CoV-2 spike protein in a fatal case of COVID-19 Open
Systemic spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) to extrapulmonary tissues has been observed following acute infections. Autopsy studies further indicate tissue-specific virus diversity, including in immune-p…
View article: Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing
Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing Open
Introduction Chronic granulomatous disease is caused by mutations in any of the 6 components of the phagocytic NADPH oxidase complex including gp91 phox , p47 phox , p22 phox , p40 phox , p67 phox , or EROS. Functional assays include react…
View article: Detection of Anti-IFNγ Autoantibodies From Dried Blood Spots
Detection of Anti-IFNγ Autoantibodies From Dried Blood Spots Open
Background High titer, neutralizing anti-cytokine autoantibodies (ACAA) to interferon gamma (IFNγ) are an emerging cause of adult-onset immunodeficiency, and detection can direct clinical management. Currently, the detection of ACAAs is pe…
View article: Immunogenetics associated with severe coccidioidomycosis
Immunogenetics associated with severe coccidioidomycosis Open
Disseminated coccidioidomycosis (DCM) is caused by Coccidioides, pathogenic fungi endemic to the southwestern United States and Mexico. Illness occurs in approximately 30% of those infected, less than 1% of whom develop disseminated diseas…
View article: A novel frameshift mutation in Phosphoinositide 3-kinase regulatory subunit 1 ( <i>PIK3R1</i> ) causes immunodeficiency and Amyotrophic Lateral Sclerosis (ALS)
A novel frameshift mutation in Phosphoinositide 3-kinase regulatory subunit 1 ( <i>PIK3R1</i> ) causes immunodeficiency and Amyotrophic Lateral Sclerosis (ALS) Open
Mutations in PIK3R1 , a regulatory subunit of Class I PI3K, are implicated in immune disorders and neurological conditions. We identified a novel heterozygous pathogenic frameshift mutation (c.1710dup) in PIK3R1 in a patient with common va…
View article: De novo DUOX2 expression in neutrophil subsets shapes the pathogenesis of intestinal disease
De novo DUOX2 expression in neutrophil subsets shapes the pathogenesis of intestinal disease Open
Infiltrating neutrophils are key effector cells in inflammatory bowel disease (IBD) while providing antimicrobial defense and tissue restitution in the intestine. The complexity of neutrophil functions in local environments underscores our…
View article: Therapeutic Use of Recombinant Interferon-Gamma in Patients with Refractory Disseminated Coccidioidomycosis
Therapeutic Use of Recombinant Interferon-Gamma in Patients with Refractory Disseminated Coccidioidomycosis Open
Introduction Disseminated coccidioidomycosis (DCM) is a serious illness with significant morbidity and mortality, especially in patients with impaired host defense mechanisms in interferon-gamma (IFN-gamma)/interleukin-12 and STAT3 axes. W…
View article: Primary Immunodeficiency Initially Identified as Sarcoidosis
Primary Immunodeficiency Initially Identified as Sarcoidosis Open
Introduction Sarcoidosis is a granulomatous disease with an incidence of up to 18 in 100,000 in some populations. Symptoms range from asymptomatic benign lesions to organ failure, with up to 90% of patients presenting with lung involvement…
View article: Clinical significance and antifungal susceptibility profile of 103 clinical isolates of <i>Scedosporium</i> species complex and <i>Lomentospora prolificans</i> obtained from NIH patients
Clinical significance and antifungal susceptibility profile of 103 clinical isolates of <i>Scedosporium</i> species complex and <i>Lomentospora prolificans</i> obtained from NIH patients Open
Reduced susceptibility to antifungals is common among members of genera Scedosporium and Lomentospora , with optimal treatments still not fully defined. In vitro antifungal susceptibility results and clinical data do not comprehensively ac…
View article: Gut microbiota phospholipids regulate intestinal gene expression and can counteract the effects of antibiotic treatment
Gut microbiota phospholipids regulate intestinal gene expression and can counteract the effects of antibiotic treatment Open
The gut microbiome influences immune and metabolic homeostasis. Our research using non-obese diabetic (NOD) mice revealed that early-life antibiotic exposure remodels the gut microbiome affecting metabolism and accelerating type 1 diabetes…
View article: Outcomes in hematopoetic cell transplantation in the setting of mold infections in patients with chronic granulomatous disease
Outcomes in hematopoetic cell transplantation in the setting of mold infections in patients with chronic granulomatous disease Open
Chronic granulomatous disease (CGD) is a disorder of immunity characterized by phagocyte dysfunction. Mold infections in patients with CGD are often severe and disseminated. We present patient characteristics, microbiological data, and out…
View article: Human papillomavirus disease in GATA2 deficiency: a genetic predisposition to HPV-associated female anogenital malignancy
Human papillomavirus disease in GATA2 deficiency: a genetic predisposition to HPV-associated female anogenital malignancy Open
Objective Patients with pathogenic variants in the GATA Binding Protein 2 ( GATA2 ), a hematopoietic transcription factor, are at risk for human papillomavirus-related (HPV) anogenital cancer at younger than expected ages. A female cohort …
View article: Self-extinguishing relay waves enable homeostatic control of human neutrophil swarming
Self-extinguishing relay waves enable homeostatic control of human neutrophil swarming Open
Neutrophils collectively migrate to sites of injury and infection. How these swarms are coordinated to ensure the proper level of recruitment is unknown. Using an ex vivo model of infection, we show that human neutrophil swarming is organi…
View article: Neurological manifestations of nontuberculous mycobacteria in adults: case series and review of the literature
Neurological manifestations of nontuberculous mycobacteria in adults: case series and review of the literature Open
Introduction Nontuberculous mycobacteria (NTM) mediated infections are important to consider in cases with neuroinflammatory presentations. We aimed to characterize cases of NTM with neurological manifestations at the National Institutes o…
View article: Anti–Interleukin-23 Autoantibodies in Adult-Onset Immunodeficiency
Anti–Interleukin-23 Autoantibodies in Adult-Onset Immunodeficiency Open
Among patients with a variety of mycobacterial, bacterial, or fungal infections, the presence of neutralizing anti-interleukin-23 was associated with severe, persistent opportunistic infections. (Funded by the National Institute of Allergy…
View article: Functional neutrophil disorders: Chronic granulomatous disease and beyond
Functional neutrophil disorders: Chronic granulomatous disease and beyond Open
Summary Since their description by Metchnikoff in 1905, phagocytes have been increasingly recognized to be the entities that traffic to sites of infection and inflammation, engulf and kill infecting organisms, and clear out apoptotic debri…
View article: High-Volume, High-Acuity, and High-Impact Learning: Tips and Tricks for Infectious Diseases Training Programs
High-Volume, High-Acuity, and High-Impact Learning: Tips and Tricks for Infectious Diseases Training Programs Open
The Infectious Diseases Society of America Training Program Directors Committee met in October 2022 and discussed an observed increase in clinical volume and acuity on infectious diseases (ID) services, and its impact on fellow education. …
View article: Issue Information
Issue Information Open
No abstract is available for this article.
View article: 2701. Mycobacterial Immune Reconstitution Inflammatory Syndrome Following Hematopoietic Cell Transplantation for GATA2 Deficiency
2701. Mycobacterial Immune Reconstitution Inflammatory Syndrome Following Hematopoietic Cell Transplantation for GATA2 Deficiency Open
Background Immune reconstitution inflammatory syndrome (IRIS) was first described in patients with HIV and opportunistic infections starting antiretroviral therapy, but may be seen following hematopoietic cell transplantation (HCT) in pati…
View article: Characterization of the antispike IgG immune response to COVID-19 vaccines in people with a wide variety of immunodeficiencies
Characterization of the antispike IgG immune response to COVID-19 vaccines in people with a wide variety of immunodeficiencies Open
Research on coronavirus disease 2019 vaccination in immune-deficient/disordered people (IDP) has focused on cancer and organ transplantation populations. In a prospective cohort of 195 IDP and 35 healthy volunteers (HV), antispike immunogl…
View article: Small bowel disease prevalence on video capsule endoscopy in chronic granulomatous disease‐associated inflammatory bowel disease
Small bowel disease prevalence on video capsule endoscopy in chronic granulomatous disease‐associated inflammatory bowel disease Open
Background and Aim Patients with chronic granulomatous disease (CGD) may develop inflammatory bowel disease (IBD). Characterization of small bowel disease in this cohort is scarce. Here, we sought to determine the prevalence and characteri…
View article: Self-extinguishing relay waves enable homeostatic control of human neutrophil swarming
Self-extinguishing relay waves enable homeostatic control of human neutrophil swarming Open
Neutrophils exhibit self-amplified swarming to sites of injury and infection. How swarming is controlled to ensure the proper level of neutrophil recruitment is unknown. Using an ex vivo model of infection, we find that human neutrophils u…
View article: Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity Open
Purpose Though copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. We sought to determine the diagnostic contribution of…
View article: Immune response to COVID-19 vaccines in people with immunodeficiencies
Immune response to COVID-19 vaccines in people with immunodeficiencies Open
COVID-19 vaccine research in immune-deficient/disordered people (IDP) has primarily focused on cancer and organ transplantation populations. We followed 195 IDP with varied immune disorders and 35 healthy volunteers (HV) from April 2021-Ap…
View article: Humoral Reconstitution after Allogeneic Hematopoietic Cell Transplantation (HCT) in Patients Pretreated with Targeted Anti-CD20 Therapy
Humoral Reconstitution after Allogeneic Hematopoietic Cell Transplantation (HCT) in Patients Pretreated with Targeted Anti-CD20 Therapy Open
Previous studies regarding the prevention of BK viremia following renal transplantation with fluoroquinolone have yielded conflicting results. The purpose of this systematic review was to examine the evidence regarding the efficacy of fluo…
View article: Chromosomal Microarray Analysis Supplements Exome Sequencing to Diagnose Children with Suspected Inborn Errors of Immunity
Chromosomal Microarray Analysis Supplements Exome Sequencing to Diagnose Children with Suspected Inborn Errors of Immunity Open
Purpose: Though copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. Thus, we sought to determine the diagnostic contribu…
View article: Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis
Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis Open
Subcutaneous phaeohyphomycosis typically affects immunocompetent individuals following traumatic inoculation. Severe or disseminated infection can occur in CARD9 deficiency or after transplantation, but the mechanisms protecting against ph…