Publications by authors named "Lev A"

Males in many species show courtship and mating preferences for certain females over others when given the choice. One of the most common targets of male mate choice in insects is female body size, with males preferring to court and mate with larger, higher-fecundity females and investing more resources in matings with those females. Although this preference is well-documented at the species level, less is known about how this preference varies within species and whether there is standing genetic variation for male mate choice within populations.

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Genetic variants in Folliculin interacting protein 1 (FNIP1) were recently discovered as monogenic causes for immunodeficiency and cardiomyopathy, with only a few patients diagnosed thus far. In this study, we describe a patient harboring a novel genetic variant in FNIP1 causing immunodeficiency with cardiac involvement. Clinical and immunological workups were performed.

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Article Synopsis
  • Inborn errors of immunity (IEI) are diseases that affect how the immune system works, causing problems like getting sick easily or having allergies.
  • A 19-year-old girl with severe combined immunodeficiency (SCID) and a family history of similar issues had two genetic mutations that made her immune system not work right.
  • After getting a special treatment called HSCT, she developed serious autoimmune problems like lupus, and tests showed complicated genetic issues can exist in people from close families.
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Body size is a trait that shapes many aspects of a species' development and evolution. Larger body size is often beneficial in animals, but it can also be associated with life history costs in natural systems. Similarly, miniaturization, the evolution of extremely small adult body size, is found in every major animal group, yet carries its own life history trade-offs.

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  • CD4+ T cells are crucial for the immune system, but their exact function is not fully understood, particularly the role of the CD4 protein itself.
  • Researchers studied seven patients with a rare genetic condition causing CD4 deficiency, leading to various infections, and found that these individuals lacked CD4+ T cells but had alternative T cell populations that could still mount immune responses.
  • While the patients showed compensatory immune responses against many pathogens, CD4 remains essential for protection against specific infections like human papillomavirus and Whipple's disease.
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Mutations in proteasome β-subunits or their chaperone and regulatory proteins are associated with proteasome-associated autoinflammatory disorders (PRAAS). We studied six unrelated infants with three de novo heterozygous missense variants in PSMB10, encoding the proteasome β2i-subunit. Individuals presented with T-B-NK± severe combined immunodeficiency (SCID) and clinical features suggestive of Omenn syndrome, including diarrhea, alopecia, and desquamating erythematous rash.

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  • Mutations in T-cell receptor (TCR) signaling can lead to combined immunodeficiency (CID), highlighted by its effects on T-cell homeostasis and differentiation.
  • This study focuses on two cousins with CID caused by a novel LCK gene mutation, which results in a truncated protein affecting T-cell function.
  • The patients experienced early infections, showed reduced CD4 T-cell levels, and while TCR signaling was impaired, some mTOR signaling pathways remained active, allowing for limited differentiation of T-cells despite their dysfunctional performance.
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Introduction: This research examines the perceived age of Premier League basketball players as they near retirement, focusing on the complex interplay between players, fans, and the media in shaping perceptions of age and retirement. The study highlights the unique pressure on the basketball players to retire due to age-related expectations, rooted in the perception that athleticism is age dependent.

Methods: The research methodology applied in this study involved conducting semi-structured interviews with a sample of 11 professional Israeli basketball players and two veteran players' agents.

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This study explored the emotional and cognitive dimensions associated with technical fouls (TFs) in basketball coaching. Using in-depth interviews with Israeli first-division basketball coaches, we aimed to uncover the emotional and cognitive intricacies involved in TFs. Through rigorous thematic content analysis, we delved into coaches' ability to perceive and manipulate psychological momentum on the court.

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Introduction: The current study presents a thorough investigation of the attitudes and emotions expressed by the spouses and girlfriends of sports fans within the context of their long-term relationships. Its primary objective is to explore the potential ramifications that surface when individuals become deeply invested in a competitive sport, demonstrating intense emotional connections, broad knowledge, unwavering loyalty, and active engagement in fan-related activities.

Methods: The research methodology applied in this study involved conducting semi-structured interviews with a sample of twelve spouses and girlfriends of fans.

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Purpose Of Review: Severe combined immune deficiency (SCID) is the most devastating genetic disease of the immune system with an unfavorable outcome unless diagnosed early in life. Newborn screening (NBS) programs play a crucial role in facilitating early diagnoses and timely interventions for affected infants.

Recent Findings: SCID marked the pioneering inborn error of immunity (IEI) to undergo NBS, a milestone achieved 15 years ago through the enumeration of T-cell receptor excision circles (TRECs) extracted from Guthrie cards.

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Theory predicts that the strength of male mate choice should vary depending on male quality when higher-quality males receive greater fitness benefits from being choosy. This pattern extends to differences in male body size, with larger males often having stronger pre- and post-copulatory preferences than smaller males. We sought to determine whether large males and small males differ in the strength (or direction) of their preference for large, high-fecundity females using the fruit fly, Drosophila melanogaster.

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Purpose: Patients with X-linked agammaglobulinemia (XLA) are characterized by humoral impairment and are routinely treated with intravenous immunoglobulin (IVIG). In this study, we aimed to investigate the presence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) antibodies in IVIG preparations harvested globally and evaluate the transfer of SARS-CoV-2 antibodies to the XLA patient.

Methods: A single-center, prospective cohort study was conducted in the period of November 2020 to November 2022.

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Article Synopsis
  • - Patients with primary immunodeficiency disorders (PIDs) often experience unique and severe skin infections due to their compromised immune systems, highlighting the challenges in diagnosis and treatment
  • - A study reviewed cases of eight children with PIDs who presented with atypical skin infections, noting their average diagnosis age and types of infections, which included serious cases like ulcerative-hemorrhagic varicella-zoster virus and resistant scabies
  • - The findings emphasize the importance of recognizing unusual infectious skin manifestations in PID patients, which can lead to critical treatment interventions and improved outcomes
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Acousto-optics imaging (AOI) is a hybrid imaging modality that is capable of mapping the light fluence rate in deep tissue by local ultrasound modulation of the diffused photons. Since the intensity of the modulated photons is relatively low, AOI systems often rely on high-gain photodetectors, e.g.

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Severe combined immunodeficiency (SCID) is a group of disorders caused by mutations in genes involved in the process of lymphocyte maturation and function. CRISPR-Cas9 gene editing of the patient's own hematopoietic stem and progenitor cells (HSPCs) could provide a therapeutic alternative to allogeneic hematopoietic stem cell transplantation, the current gold standard for treatment of SCID. To eliminate the need for scarce patient samples, we engineered genotypes in healthy donor (HD)-derived CD34 HSPCs using CRISPR-Cas9/rAAV6 gene-editing, to model both SCID and the therapeutic outcomes of gene-editing therapies for SCID via multiplexed homology-directed repair (HDR).

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Background: Autosomal dominant hyper-IgE syndrome (AD-HIES) caused by dominant negative (DN) variants in the signal transducer and activator of transcription 3 gene () is characterized by recurrent Staphylococcal abscesses, severe eczema, chronic mucocutaneous candidiasis (CMC), and non-immunological facial and skeletal features.

Objectives: To describe our experience with the diagnosis and treatment of adult patients with AD-HIES induced by DN- variants.

Methods: The medical records of adult patients (>18 years) treated at the Allergy and Clinical Immunology Clinic of Hadassah Medical Center, Jerusalem, Israel, were retrospectively analyzed.

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Healthcare-acquired infections (HAI) pose vast health and economic burdens. Proper hand-hygiene is effective for reducing healthcare-acquired infections (HAI) incidence, yet staff compliance is generally low. This study assessed the feasibility, acceptability and preliminary effect of employing medical clowns to enhance hand-hygiene among physicians and nurses.

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  • * The child was diagnosed with diffuse large B cell lymphoma, and genetic analysis identified a novel homozygous mutation in the SLP76 gene, which is important for T cell signaling and linked to immunodeficiency disorders.
  • * Functional studies of T cells showed that this mutation impaired key signaling processes, suggesting that SLP76 deficiency contributes to severe EBV infections and should be recognized as a significant factor in related immunological conditions.
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Purpose: Receptor-interacting serine/threonine-protein kinase 1 RIPK1) is an important regulator of necroptosis and inflammatory responses. We present the clinical features, genetic analysis and immune work-up of two patients with infantile-onset inflammatory bowel disease (IBD) resulting from mutations.

Methods: Whole exome and Sanger sequencing was performed in two IBD patients.

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Article Synopsis
  • The study aimed to evaluate the immune response in infants exposed to anti-TNFα or azathioprine due to their mothers' inflammatory bowel disease, focusing on T and B cell distribution and function.
  • Conducted from 2014 to 2017, the research involved measuring anti-TNFα levels in cord blood and analyzing T-cell function and immunoglobulin levels in infants at 3 and 12 months.
  • Findings indicated that infants exposed to anti-TNFα had normal immune responses, with adequate B-cell counts and no severe infections, but further research with untreated controls is necessary for confirmation.
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Background: Hemophilia A (HA) therapy requires intravenous replacement infusions of factor (F) VIII concentrate. Inhibitors are high-affinity immunoglobulin G that are directed against FVIII and thereby render replacement therapy ineffective. This complication has significant prognostic implications.

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Patients with Wiskott-Aldrich syndrome (WAS) harbor mutations in the WAS gene and suffer from immunodeficiency, microthrombocytopenia, and eczema. T-cells play an important role in immune response in the skin and the γδT-cells have an important role in skin homeostasis. Since WAS patients often present with eczema, we wanted to examine whether the T-cell receptor gamma (TRG) repertoire of the γδT-cells is affected in these patients.

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Background: During the process of generating diverse T and B cell receptor (TCR and BCR, respectively) repertoires, double-strand DNA breaks are produced. Subsequently, these breaks are corrected by a complex system led by the non-homologous end-joining (NHEJ). Pathogenic variants in genes involved in this process, such as the gene, cause severe combined immunodeficiency syndrome (SCID) along with neurodevelopmental disease and sensitivity to ionizing radiation.

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Article Synopsis
  • Translation of SARS-CoV-2 mRNAs by host ribosomes is crucial for the virus to replicate, with the viral protein NSP1 playing a key role by suppressing translation and causing degradation of cellular mRNAs.
  • NSP1 destabilizes multi-exon host mRNAs while allowing stability in intron-less transcripts, including viral mRNAs, due to a specific RNA element that protects against NSP1's effects.
  • The structure of the SARS-CoV-2 5'UTR promotes cap-independent translation and NSP1 production, while also revealing vulnerabilities that could be targeted for potential therapies against the virus.
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