Primary Immunodeficiency Disease Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Cancers, Vol. 15, Pages 5059: Exploring the Significance of Immune Checkpoints and EBV Reactivation in Antibody Deficiencies with Near-Normal Immunoglobulin Levels or Hyperimmunoglobulinemia
This study delves into the intricate landscape of primary immunodeficiencies, with a particular focus on antibody deficiencies characterized by near-normal immunoglobulin levels or hyperimmunoglobulinemia. Contrary to the conventional focus on genetic dysregulation, these studies investigate the key roles of immune checkpoints, such as PD-1/PD-L1, CTLA-4/CD86, and CD200R/CD200, on selected subpopulations of T and B lymphocytes and their serum concentrations of soluble forms in patients recruited for the studies in healthy volunteers. In addition, the studies also show the role of Epstein&ndash;Barr virus (EBV) reac...
Source: Cancers - October 19, 2023 Category: Cancer & Oncology Authors: Paulina Mertowska Sebastian Mertowski Konrad Smolak Marcin Pasiarski Jolanta Smok-Kalwat Stanis ław Góźdź Ewelina Grywalska Tags: Article Source Type: research

Could Immune Checkpoint Disorders and EBV Reactivation Be Connected in the Development of Hematological Malignancies in Immunodeficient Patients?
In conclusion, our study underscores the intricate relationship between immune dysfunction, EBV reactivation, and immune checkpoint modulation in the context of immunodeficiency-associated cancers. The altered expression of immune checkpoints, along with heightened EBV reactivation, suggests a potential mechanism for immune evasion and tumor progression. These findings provide insights into the complex interactions that contribute to cancer development in immunocompromised individuals, shedding light on potential therapeutic targets for improved management and treatment outcomes. Further investigations are warranted to elu...
Source: Cancer Control - October 14, 2023 Category: Cancer & Oncology Authors: Paulina Mertowska Sebastian Mertowski Konrad Smolak Gabriela Kita Katarzyna Guz Aleksandra Kita Marcin Pasiarski Jolanta Smok-Kalwat Stanis ław Góźdź Ewelina Grywalska Source Type: research

Editorial: Women in primary immunodeficiencies
(Source: Frontiers in Immunology)
Source: Frontiers in Immunology - October 12, 2023 Category: Allergy & Immunology Source Type: research

Novel frameshift variants expand the map of the genetic defects in IRF2BP2
ConclusionsWe describe novel variants in a delimited low-complex region, which may be considered a hotspot in IRF2BP2. Moreover, this is the first time that a large CNV in IRF2BP2 has been reported to cause CVID. The distinct mechanisms than LoF in IRF2BP2 could cause different phenotype compared with the mainly described. Further investigations are necessary to comprehend the regulatory mechanisms of IRF2BP2, which could be under variable expression of the disease. (Source: Frontiers in Immunology)
Source: Frontiers in Immunology - October 9, 2023 Category: Allergy & Immunology Source Type: research

A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome
BACKGROUND Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a primary immunodeficiency disorder caused by heterozygous gain-of-function CXCR4 mutations. Myelokathexis is a kind of neutropenia caused by neutrophil retention in bone marrow and in WHIM syndrome is associated with lymphopenia and monocytopenia. The CXCR4 antagonist plerixafor mobilizes leukocytes to the blood; however, its safety and efficacy in WHIM syndrome are undefined.METHODS In this investigator-initiated, single-center, quadruple-masked phase III crossover trial, we compared the total infection severity score (TISS) as the ...
Source: Journal of Clinical Investigation - October 3, 2023 Category: Biomedical Science Authors: David H. McDermott, Daniel Velez, Elena Cho, Edward W. Cowen, John J. DiGiovanna, Diana V. Pastrana, Christopher B. Buck, Katherine R. Calvo, Pamela J. Gardner, Sergio D. Rosenzweig, Pamela Stratton, Melissa A. Merideth, H. Jeffrey Kim, Carmen Brewer, Jam Source Type: research

Navigating the transition of care in patients with inborn errors of immunity: a single-center ’s descriptive experience
The transition from pediatric to adult care is a critical milestone in managing children, especially in those with complex chronic conditions. It involves ensuring the patient and family adapt correctly to the new phase, maintaining continuity of ongoing treatments, and establishing an appropriate follow-up plan with specialists. Patients with Inborn error of immunity (IEI), formerly known as Primary Immune Disorders (PID) are part of a group of disorders characterized by alterations in the proper functioning of the immune system; as the diagnostic and treatment tools for these entities progress, life expectancy increases,...
Source: Frontiers in Immunology - October 3, 2023 Category: Allergy & Immunology Source Type: research

Dysimmunity in common variable immunodeficiency is associated with alterations in oral, respiratory, and intestinal microbiota
In this study, we assessed the oral, respiratory, and gastrointestinal microbiota of 41 CVID patients (24 with dysimmune and 17 with infection complications) and 15 healthy volunteers using 16S rRNA gene sequencing to explore associations between microbiome profiles and CVID phenotypes. Profound differences in the composition of the microbiota in saliva, sputum, and stool were detected between dysimmune CVID patients and healthy individuals. Globally, respiratory species diversity and faecal bacterial richness were lower in CVID individuals with immune complications. Although a single species could not be identified as a r...
Source: Clinical Immunology - September 29, 2023 Category: Allergy & Immunology Authors: Marta Dafne Cabanero-Navalon Victor Garcia-Bustos Alex Mira Pedro Moral Moral Miguel Salavert-Lleti Mar ía José Forner Giner Mar ía Núñez Beltrán Jos é Todolí Parra Carme Bracke Miguel Carda-Di éguez Source Type: research

Cancers, Vol. 15, Pages 4786: Could Immune Checkpoint Disorders and EBV Reactivation Be Connected in the Development of Hematological Malignancies in Immunodeficient Patients?
In conclusion, our study underscores the intricate relationship between immune dysfunction, EBV reactivation, and immune checkpoint modulation in the context of immunodeficiency-associated cancers. The altered expression of immune checkpoints, along with heightened EBV reactivation, suggests a potential mechanism for immune evasion and tumor progression. These findings provide insights into the complex interactions that contribute to cancer development in immunocompromised individuals, shedding light on potential therapeutic targets for improved management and treatment outcomes. Further investigations are warranted to elu...
Source: Cancers - September 29, 2023 Category: Cancer & Oncology Authors: Paulina Mertowska Sebastian Mertowski Konrad Smolak Gabriela Kita Katarzyna Guz Aleksandra Kita Marcin Pasiarski Jolanta Smok-Kalwat Stanis ław Góźdź Ewelina Grywalska Tags: Article Source Type: research

The Radiological Manifestations of Phagocytic Primary Immunodeficiencies in Children
Iran J Allergy Asthma Immunol. 2023 Sep 3;22(4):398-404. doi: 10.18502/ijaai.v22i4.13612.ABSTRACTPrimary immunodeficiencies are a diverse group of rare genetic disorders, among which phagocytic dysfunction impairs neutrophil function in a wide range of inherited disorders. Due to the heterogeneity of the disorders a multidisciplinary approach is often required for early diagnosis and initiation of appropriate treatments. The aim of this study was to evaluate the imaging findings in children admitted with phagocytic primary immunodeficiencies. Thirty-five children who fulfilled the inclusion criteria for phagocytic dysfunct...
Source: Iranian Journal of Allergy, Asthma and Immunology - September 28, 2023 Category: Allergy & Immunology Authors: Mitra Khalili Zahra Chavoshzadeh Sepideh Darougar Mahboubeh Mansouri Narges Eslami Delara Babaie Mehrnaz Mesdaghi Abdollah Karimi Shahnaz Armin Alireza Fahimzad Roxana Mansour Ghanaei Sedigheh Rafiee Tabatabaie Fatemeh Akrami Source Type: research