Explanipedia

Cilia defects upon loss of WDR4 are linked to proteasomal hyperactivity and ubiquitin shortage Open

Martin D. Burkhalter, Tom Stiff, Lars D. Maerz, Teresa Casar Tena, Heike Wiese , et al. · 2024

The WD repeat-containing protein 4 (WDR4) has repeatedly been associated with primary microcephaly, a condition of impaired brain and skull growth. Often, faulty centrosomes cause microcephaly, yet aberrant cilia may also be involved. Here…

Neurocognitive Functioning is Impaired in Perinatally HIV-Infected Youth Open

Tamara Welikson, Manoj K. Sarma, Margaret Keller, James Sayre, Irwin Walot , et al. · 2024

Background The present study examined neurocognitive differences between Perinatally HIV (PHIV)-infected-youth and age and gender matched healthy controls. Despite early, long-term anti-viral treatment (ART), significant neurocognitive def…

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects Open

Amy P. Hsu, Ágnes Donkó, Megan E. Arrington, Muthulekha Swamydas, Danielle Fink , et al. · 2024

Ras-related C3 botulinum toxin substrate 2 (RAC2), through interactions with reduced NAD phosphate oxidase component p67 phox , activates neutrophil superoxide production, whereas interactions with p21-activated kinase are necessary for fM…

Clinical and functional spectrum of RAC2-related immunodeficiency Open

Ágnes Donkó, Svetlana Sharapova, Juraj Kabát, Sundar Ganesan, Fabian Hauck , et al. · 2024

Mutations in the small Rho-family guanosine triphosphate hydrolase RAC2, critical for actin cytoskeleton remodeling and intracellular signal transduction, are associated with neonatal severe combined immunodeficiency (SCID), infantile neut…

Human <i>PIK3R1</i> mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2 Open

Tina Nguyen, Anthony Lau, Julia Bier, Kristen C. Cooke, Helen Lenthall , et al. · 2023

Heterozygous loss-of-function (LOF) mutations in PIK3R1 (encoding phosphatidylinositol 3-kinase [PI3K] regulatory subunits) cause activated PI3Kδ syndrome 2 (APDS2), which has a similar clinical profile to APDS1, caused by heterozygous gai…

Table of Contents Open

Samuel M. Vanderhoek, Laura Prichett, Hannah Hardeo, Emily F. Boss, Risa M. Wolf , et al. · 2023

Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11 Open

Amie Nguyen, Henry Y. Lu, Bradly M. Bauman, Gina Dabbah‐Krancher, Xijun Zhang , et al. · 2023

BT595, a 10% Human Normal Immunoglobulin, for Replacement Therapy of Primary Immunodeficiency Disease: Results of a Subcohort Analysis in Children Open

Gergely Kriván, Michael Borte, Pere Soler‐Palacín, Joseph A. Church, Ildikó Csürke , et al. · 2022

Purpose To assess the efficacy, pharmacokinetics, and safety of a new, highly purified 10% IVIg (BT595, Yimmugo ® ) administered in children with PID. Methods This was an open-label, prospective, uncontrolled, multicenter Phase III pivotal…

Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50 Open

Manfred Fliegauf, Matias Kinnunen, Sara Posadas‐Cantera, Nadezhda Camacho-Ordóñez, Hassan Abolhassani , et al. · 2022

Most of the currently known heterozygous pathogenic NFKB1 (Nuclear factor kappa B subunit 1) variants comprise deleterious defects such as severe truncations, internal deletions, and frameshift variants. Collectively, these represent the m…

Talin variant P229S compromises integrin activation and associates with multifaceted clinical symptoms Open

Latifeh Azizi, Lorena Varela, Paula Turkki, Vasyl V. Mykuliak, Sanna Korpela , et al. · 2022

Adhesion of cells to the extracellular matrix (ECM) must be exquisitely coordinated to enable development and tissue homeostasis. Cell–ECM interactions are regulated by multiple signalling pathways that coordinate the activation state of t…

Undetectable NK Cells due to the FCGR3A Variant, L66H, Which May Not Be Directly Disease-Causing Open

Neema Izadi, Miao Sun, Emily M. Mace, Maurice R.G. O’Gorman, Joseph A. Church · 2021

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency Open

Dominic Lenz, Jens Pahl, Fabian Hauck, Seham Alameer, Meena Balasubramanian , et al. · 2021

White matter of perinatally HIV infected older youths shows low frequency fluctuations that may reflect glial cycling Open

Manoj K. Sarma, Amrita Pal, Margaret Keller, Tamara Welikson, Joseph Ventura , et al. · 2021

In perinatally HIV-infected (PHIV) children, neurodevelopment occurs in the presence of HIV-infection, and even with combination antiretroviral therapy (cART) the brain can be a reservoir for latent HIV. Consequently, patients often demons…

Exclusive enteral nutrition induced sustained changes in the microbiota and improved inflammatory bowel disease in a pediatric patient with chronic granulomatous disease Open

Emilia Liana Falcone, Yu Han, Samantha Kreuzburg, Theo Heller, Joseph A. Church , et al. · 2020

Multiplexed Functional Assessment of Genetic Variants in CARD11 Open

Iana Meitlis, Eric J. Allenspach, Bradly M. Bauman, Isabelle Phan, Gina Dabbah , et al. · 2020

Genetic testing has increased the number of variants identified in disease genes, but the diagnostic utility is limited by lack of understanding variant function. CARD11 encodes an adaptor protein that expresses dominant-negative and gain-…

Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency Open

Panojot Bifsha, Jennifer W. Leiding, Sung‐Yun Pai, A. Colamartino, Nicholas Hartog , et al. · 2020

Key Points 3D organoid T-cell differentiation from a few hundred peripheral blood CD34+ cells was successfully achieved. 3D organoid T-cell differentiation could help physicians distinguish intrinsic from extrinsic defects underlying a cli…

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis Open

Fabien G. Lafaille, Oliver Harschnitz, Yoon Seung Lee, Peng Zhang, Mary L. Hasek , et al. · 2019

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients Open

Christian Staufner, Bianca Peters, Matias Wagner, Seham Alameer, Ivo Barić , et al. · 2019

Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects Open

George S. Amatuni, Stanley Sciortino, Robert J. Currier, Stanley J. Naides, Joseph A. Church , et al. · 2019

Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1 Open

Ewelina Mamcarz, Sheng Zhou, Timothy Lockey, Hossam A. Abdelsamed, Shane J. Cross , et al. · 2019

Lentiviral vector gene therapy combined with low-exposure, targeted busulfan conditioning in infants with newly diagnosed SCID-X1 had low-grade acute toxic effects and resulted in multilineage engraftment of transduced cells, reconstitutio…

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects Open

Amy P. Hsu, Ágnes Donkó, Megan E. Arrington, Muthulekha Swamydas, Danielle Fink , et al. · 2019

Ras-related C3 botulinum toxin substrate 2 (RAC2), through interactions with reduced NAD phosphate oxidase component p67phox, activates neutrophil superoxide production, whereas interactions with p21-activated kinase are necessary for fMLF…

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017 Open

George S. Amatuni, Robert J. Currier, Joseph A. Church, Tracey Bishop, Elena Grimbacher , et al. · 2019

OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had DNA from dried blood spots assayed for T-cell receptor excision ci…

White matter microstructure among perinatally HIV-infected youth: a diffusion tensor imaging study Open

Manoj K. Sarma, Margaret Keller, Paul M. Macey, David E. Michalik, Judy Hayes , et al. · 2019

Maternal HIV Infection Influences the Microbiome of HIV-Uninfected Infants Open

Joseph A. Church · 2017

JM Bender, F Li, S Martelly. Sci Transl Med. 2016;8(349):349ra100 Multiple studies have demonstrated that perinatally HIV-exposed but HIV-uninfected (HEU) infants experience greater morbidity and mortality than HIV-unexposed, uninfected i…

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder Open

Peter Huppke, Susann Weißbach, Joseph A. Church, Rhonda E. Schnur, Martina Krusen , et al. · 2017

Hemophagocytic Lymphohistiocytosis and Kikuchi-Fujimoto Disease Associated with Mumps in a Previously Vaccinated Child - A Case Report and Review of the Literature Open

Paul K. Pattengale, Rhina Castillo, Avarna Agarwal, Anusha Ramanathan, Joseph A. Church · 2017

Kikuchi-Fujimoto Disease (KFD), a rare and usually self-limited inflammatory condition, and Hemophagocytic Lymphohistiocytosis (HLH), an unrestrained immune activation syndrome characterized by cytokine storm and accumulations of activated…

Pilot Assessment of Brain Metabolism in Perinatally HIV-Infected Youths Using Accelerated 5D Echo Planar J-Resolved Spectroscopic Imaging Open

Zohaib Iqbal, Neil Wilson, Margaret Keller, David E. Michalik, Joseph A. Church , et al. · 2016

PurposeTo measure cerebral metabolite levels in perinatally HIV-infected youths and healthy controls using the accelerated five dimensional (5D) echo planar J-resolved spectroscopic imaging (EP-JRESI) sequence, which is capable of obtainin…

Long-Term Tolerability, Safety, and Efficacy of Recombinant Human Hyaluronidase-Facilitated Subcutaneous Infusion of Human Immunoglobulin for Primary Immunodeficiency Open

Richard L. Wasserman, Isaac Melamed, Mark R. Stein, Werner Engl, Marlies Sharkhawy , et al. · 2016

Long-term replacement therapy with IGHy was safe and effective in 83 pediatric and adult subjects with PIDD.

Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)–associated inflammatory diseases Open

Dirk Holzinger, Selina Kathleen Fassl, Wilco de Jager, Peter Lohse, Ute F. Röhrig , et al. · 2015

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review Open

Ayman W. El‐Hattab, Christian P. Schaaf, Ping Fang, Elizabeth Roeder, Virginia Kimonis , et al. · 2015

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