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.

Novel gene therapy advances for treating primary immunodeficiency disorders - an update
Ann Med Surg (Lond). 2023 Oct 20;85(12):5859-5862. doi: 10.1097/MS9.0000000000001436. eCollection 2023 Dec.NO ABSTRACTPMID:38098588 | PMC:PMC10718386 | DOI:10.1097/MS9.0000000000001436 (Source: Annals of Medicine)
Source: Annals of Medicine - December 15, 2023 Category: Internal Medicine Authors: Ruhul Amin Ronald Darwin Sandip Chakraborty Biplab K Dey Kuldeep Dhama Talha B Emran Source Type: research

Infected pericardial cyst: a rare cause of neonatal cardiac tamponade, successfully treated by percutaneous aspiration
A 15-day-old term male neonate presented with respiratory distress, tachycardia, cyanosis (SpO2 85%), periorbital puffiness and pedal oedema (figure 1A). Echocardiography showed suprasystemic pulmonary artery pressures and a large (2.7x3 cm) mass compressing the right heart, producing cardiac tamponade (figure 1B; ). Saline contrast echocardiography (figure 1C; ) does not show any communication with the circulation. Contrast cardiac CT angiogram showed a large lobulated pericardial cyst encircling and compressing the right heart without any communication with the circulation (figure 1D). 3D CT reconstruction showed mass ef...
Source: Archives of Disease in Childhood - Fetal and Neonatal Edition - December 15, 2023 Category: Perinatology & Neonatology Authors: Karmegaraj, B., Sasikumar, N., Kappanayil, M., Manikavasagam, M., Kumar, R. K. Tags: Images in neonatal medicine Source Type: research

A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report
Severe combined immunodeficiency (SCID) is a group of fatal primary immunodeficiencies characterized by the severe impairment of T-cell differentiation. IL7R deficiency is a rare form of SCID that usually present... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 11, 2023 Category: Genetics & Stem Cells Authors: Lulu Yan, Yan He, Yuxin Zhang, Yingwen Liu, Limin Xu, Chunxiao Han, Yudan Zhao and Haibo Li Tags: Case Report Source Type: research

Recapitulating primary immunodeficiencies with expanded potential stem cells: proof-of-concept with STAT1 gain-of-function
Inborn errors of immunity (IEI) often lack specific disease models and personalized management. Signal transducer and activator of transcription (STAT)-1 gain-of-function (GoF) is such example of an IEI with diverse clinical phenotype with unclear pathomechanisms and unpredictable response to therapy. Limitations in obtaining fresh samples for functional testing and research further highlights the need for patient-specific ex-vivo platforms. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - December 8, 2023 Category: Allergy & Immunology Authors: Xueyan Liu, Vera SF. Chan, Kenneth GC. Smith, Chang Ming, Chung Sze Or, Faria TW. Tsui, Bo Gao, Matthew C. Cook, Pentao Liu, Chak Sing Lau, Philip Hei Li Source Type: research

Recapitulating primary immunodeficiencies with expanded potential stem cells: Proof of concept with STAT1 gain of function
Inborn errors of immunity (IEI) often lack specific disease models and personalized management. Signal transducer and activator of transcription (STAT)-1 gain of function (GoF) is such an example of an IEI with diverse clinical phenotype with unclear pathomechanisms and unpredictable response to therapy.1-3 First described in 2011 as an autosomal-dominant chronic mucocutaneous candidiasis (CMC) disease, the spectrum of STAT1-GoF manifestations and severity varies greatly, even among family members harboring the same germline mutation. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - December 8, 2023 Category: Allergy & Immunology Authors: Xueyan Liu, Vera S.F. Chan, Kenneth G.C. Smith, Chang Ming, Chung Sze Or, Faria T.W. Tsui, Bo Gao, Matthew C. Cook, Pentao Liu, Chak Sing Lau, Philip Hei Li Source Type: research

Cluster analysis of flowcytometric immunophenotyping with extended T cell subsets in suspected immunodeficiency
ConclusionCluster analyses of immune variables, including detailed lymphocyte flowcytometry with T cell subpopulations, may support clinical decision making for suspected immunodeficiency in daily practice. (Source: Immunity, Inflammation and Disease)
Source: Immunity, Inflammation and Disease - December 6, 2023 Category: Allergy & Immunology Authors: Luca Seitz, Daniel Gaitan, Caroline M. Berkemeier, Christoph T. Berger, Mike Recher Tags: ORIGINAL ARTICLE Source Type: research

Dietary environmental factors shape the immune defense against Cryptosporidium infection
Cell Host Microbe. 2023 Nov 28:S1931-3128(23)00458-4. doi: 10.1016/j.chom.2023.11.008. Online ahead of print.ABSTRACTCryptosporidium is a leading cause of diarrheal-related deaths in children, especially in resource-poor settings. It also targets the immunocompromised, chronically infecting people living with HIV and primary immunodeficiencies. There is no vaccine or effective treatment. Although it is known from human cases and animal models that CD4+ T cells play a role in curbing Cryptosporidium, the role of CD8+ T cells remains to be defined. Using a Cryptosporidium tyzzeri mouse model, we show that gut-resident CD8+ i...
Source: Cell Host and Microbe - December 5, 2023 Category: Microbiology Authors: Muralidhara Rao Maradana N Bishara Marzook Oscar E Diaz Tapoka Mkandawire Nicola Laura Diny Ying Li Anke Liebert Kathleen Shah Mauro Tolaini Martin Kv áč Brigitta Stockinger Adam Sateriale Source Type: research

Two cases of pediatric primary immunodeficiency caused by a familial moesin(MSN)gene mutation
CONCLUSION: The primary immunodeficiency disease caused by MSN gene mutation is an X-linked recessive genetic disease that involves structural and functional damage to the respiratory system, and the worm-eaten appearance of the bronchial wall under endoscopy may be a relatively specific sign. The general manifestations of this disease are recurrent infections from 1 month to 6 months after birth, significantly reduced counts of lymphocytes and neutrophils, and decreased cellular and humoral immune function. Different types of MSN gene mutations and nonsense mutations at different sites have different clinical phenotypes. ...
Source: Clinical Immunology - December 5, 2023 Category: Allergy & Immunology Authors: Muquan Li Shuanghong Luo Zhiqiang Zhuo Min Shu Source Type: research

Genes, Vol. 14, Pages 2172: Molecular Characterization and Establishment of a Prognostic Model Based on Primary Immunodeficiency Features in Association with RNA Modifications in Triple-Negative Breast Cancer
This study aims to explore the impact of specific immune pathways and their regulated molecular mechanisms in TNBC. The gene expression data of breast cancer patients were obtained from the TCGA and METABRIC databases. Gene set variation analysis (GSVA) revealed specific upregulation or abnormal expression of immunodeficiency pathways in TNBC patients. Multi-omics data showed significant differential expression of Primary Immunodeficiency Genes (PIDGs) in TNBC patients, who are prone to genomic-level variations. Consensus clustering was used in two datasets to classify patients into two distinct molecular subtypes based on...
Source: Genes - December 2, 2023 Category: Genetics & Stem Cells Authors: Hongzhuo Xia Xi Xu Yuxuan Guo Xiyun Deng Yian Wang Shujun Fu Tags: Article Source Type: research

A survey of nutritional status and support situation in Chinese hospitalized patients with common variable immunodeficiency (CVID)
This study is the first to examines the nutritional status of hospitalized Chinese CVID patients. (Source: Clinical Nutrition ESPEN)
Source: Clinical Nutrition ESPEN - December 1, 2023 Category: Nutrition Authors: R. Li, W. Chen Source Type: research