Kathleen E. Sullivan
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View article: Hematopoietic Cell Transplantation for Wiskott-Aldrich syndrome: A PIDTC Report
Hematopoietic Cell Transplantation for Wiskott-Aldrich syndrome: A PIDTC Report Open
Wiskott-Aldrich syndrome (WAS), an X-linked disorder characterized by immunodeficiency, thrombocytopenia, autoimmunity, and malignancy, can be effectively treated with allogeneic hematopoietic cell transplantation (HCT). Older age at HCT a…
View article: Autoantibodies in 22q11.2 Deletion Syndrome with and Without Schizophrenia
Autoantibodies in 22q11.2 Deletion Syndrome with and Without Schizophrenia Open
Background Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a common congenital primary immune deficiency that typically presents with conotruncal cardiac defects, hypocalcemia, palatal abnormalities, dysmorphic facial features, and dim…
View article: Immunoglobulin Replacement Therapy in a Child with EIF2AK2-Related LEUDEN Syndrome and Antibody Deficiency
Immunoglobulin Replacement Therapy in a Child with EIF2AK2-Related LEUDEN Syndrome and Antibody Deficiency Open
Introduction Variants in EIF2AK2 are associated with leukoencephalopathy, developmental delay, and episodic neurologic regression (LEUDEN) syndrome. EIF2AK2 regulates stress response and lymphocyte transcription factors. Presentations of L…
View article: Immunodeficiency in Mitochondrial DNA Depletion Syndrome 20: A New Phenotypic Insight into LIG3 Mutations
Immunodeficiency in Mitochondrial DNA Depletion Syndrome 20: A New Phenotypic Insight into LIG3 Mutations Open
Background Mitochondrial DNA depletion syndrome 20 (MTDPS20) is a rare disorder caused by variants in the LIG3 gene, which encodes a DNA ligase essential for mitochondrial DNA repair and replication. Defects in LIG3 impair mitochondrial re…
View article: United States Immunodeficiency Network (USIDNET) Reimagined as a Semiautomated Data Extraction Method for Registry Building
United States Immunodeficiency Network (USIDNET) Reimagined as a Semiautomated Data Extraction Method for Registry Building Open
Studying rare immunodeficiency conditions or inborn errors of immunity (IEI) on a large scale is important to understand their natural history, associated morbidities, and long-term outcomes. Compiling such comprehensive data is necessary …
View article: A Case of Very Early-Onset Inflammatory Bowel Disease due to a Novel RIPK1 Variant Confirmed by Western Blot
A Case of Very Early-Onset Inflammatory Bowel Disease due to a Novel RIPK1 Variant Confirmed by Western Blot Open
Background Very early-onset inflammatory bowel disease (VEO-IBD), diagnosed before the age of 6, is a severe IBD subtype often associated with monogenic causes. Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is a critical r…
View article: Diversity in the United States Immunodeficiency Network (USIDNET) Patient Registry
Diversity in the United States Immunodeficiency Network (USIDNET) Patient Registry Open
Introduction The United States Immunodeficiency Network (USIDNET) is an NIH-funded research consortium that advances scientific investigation in the field of inborn errors of immunity (IEI). Capturing demographic diversity within the patie…
View article: Digging in the DIRT Since 2018: Form, Function, and Findings of a Complex Immune Dysregulation Program
Digging in the DIRT Since 2018: Form, Function, and Findings of a Complex Immune Dysregulation Program Open
Inflammation and immune disturbance are common to the pathology of most diseases. Clinical understanding and ability to interrogate immune function lag far behind the rising number of available immune-directed therapies. Historically, diag…
View article: Chronic Pulmonary and Systemic Inflammatory Manifestations Associated with Interstitial Lung Disease in Patients with Common Variable Immunodeficiency
Chronic Pulmonary and Systemic Inflammatory Manifestations Associated with Interstitial Lung Disease in Patients with Common Variable Immunodeficiency Open
Rationale Interstitial (diffuse) lung disease (ILD) in common variable immunodeficiency (CVID) patients significantly impacts their quality of life and survival. We aimed to identify phenotypic characteristics associated with ILD in a larg…
View article: Follicular Helper T Cell Dysfunction in 22q11.2 Deletion Syndrome Segregates with Impaired B Cell Maturation and Recurrent Infections
Follicular Helper T Cell Dysfunction in 22q11.2 Deletion Syndrome Segregates with Impaired B Cell Maturation and Recurrent Infections Open
Purpose 22q11.2 deletion syndrome has been primarily described as a disorder of T cell production secondary to thymic hypoplasia. However, there is great complexity in the clinical picture with infections, autoimmunity, and inflammation oc…
View article: Enhanced T-cell immunity and lower humoral responses following 5-dose SARS-CoV-2 vaccination in patients with inborn errors of immunity compared with healthy controls
Enhanced T-cell immunity and lower humoral responses following 5-dose SARS-CoV-2 vaccination in patients with inborn errors of immunity compared with healthy controls Open
Objective Patients with Inborn Errors of Immunity (IEI) are at higher risk of severe SARS-CoV-2 infection. We evaluated humoral and cellular responses to COVID-19 vaccines in Brazilian patients with IEI and healthy controls. Methods Fifty-…
View article: Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis
Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis Open
Kenny-Caffey syndrome (KCS) is a rare genetic disorder characterized by extreme short stature, cortical thickening and medullary stenosis of tubular bones, facial dysmorphism, abnormal T cell function, and hypoparathyroidism. Biallelic los…
View article: Lower perceived stress enhances neural synchrony in perceptual and attentional cortices during naturalistic processing
Lower perceived stress enhances neural synchrony in perceptual and attentional cortices during naturalistic processing Open
Perceived stress is the subjective appraisal of the level of stress experienced by an individual in response to external or internal demands. Recent research on perceived stress has highlighted its role in influencing cognition, leading to…
View article: IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies
IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies Open
IFN-signaling gene (ISG) expression scores are potential markers of inflammation with significance from cancer to genetic syndromes. In Aicardi Goutières Syndrome (AGS), a disorder of abnormal DNA and RNA metabolism, this score has potenti…
View article: Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability Open
Nascent proteins destined for the cell membrane and the secretory pathway are targeted to the endoplasmic reticulum (ER) either posttranslationally or cotranslationally. The signal-independent pathway, containing the protein TMEM208, is on…
View article: UNIQUE MONOCYTE EXPRESSION SIGNATURE IN A STXBP2 MUTATION CAUSING INFANTILE ONSET VEO-IBD AND HLH
UNIQUE MONOCYTE EXPRESSION SIGNATURE IN A STXBP2 MUTATION CAUSING INFANTILE ONSET VEO-IBD AND HLH Open
Mutations in syntaxin-binding-protein-2 (STXBP2) can result in NK cell dysfunction leading to a hyperinflammatory state including familial HLH and infantile onset inflammatory bowel disease (IBD). While the function of STXBP2 in NK cells a…
View article: Nuclear-free NYC: How New Yorkers are disarming the legacies of the Manhattan Project
Nuclear-free NYC: How New Yorkers are disarming the legacies of the Manhattan Project Open
In 2021, New York City passed some of the most progressive nuclear disarmament legislation of any major city in the United States, supported by local activists from the New York Campaign to Abolish Nuclear Weapons (NYCAN). In this essay, t…
View article: Surveillance for rubella virus in samples obtained from non‐immunodeficient individuals
Surveillance for rubella virus in samples obtained from non‐immunodeficient individuals Open
The peer review history for this article is available at https://www.webofscience.com/api/gateway/wos/peer-review/10.1111/pai.14082.
View article: Undergraduate Student Participation in Undergraduate Research: Preliminary Findings
Undergraduate Student Participation in Undergraduate Research: Preliminary Findings Open
Over the past decade, the researchers have worked in higher education and community-based settings and worked with dozens of undergraduate students. Personal experience of working with those students fueled our curiosity. We knew that many…
View article: Undergraduate Student Participation in Undergraduate Research: Preliminary Findings
Undergraduate Student Participation in Undergraduate Research: Preliminary Findings Open
Over the past decade, the researchers have worked in higher education and community-based settings and worked with dozens of undergraduate students. Personal experience of working with those students fueled our curiosity. We knew that many…