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.

Punctate inner choroidopathy in common variable immunodeficiency associated with a pathogenic variant in the tumour necrosis factor receptor superfamily 13b (TNFRSF13B) gene - Case report and review of the literature
CONCLUSION: Autoimmunity may be the dominant clinical presenting feature of CVID. Punctuate inner choroidopathy is an idiopathic inflammatory chorioretinopathy, and to the best of our knowledge, has not been previously reported in CVID. A better understanding of the molecular bases of autoimmune diseases in CVID may provide novel therapeutic targets for autoimmune diseases in this patient population.PMID:37652172 | DOI:10.1016/j.clim.2023.109748 (Source: Clinical Immunology)
Source: Clinical Immunology - August 31, 2023 Category: Allergy & Immunology Authors: Hiba Mohammed Hussein Salih Kelvin Cheng Kah Wai Justin McKee Charu Chopra Source Type: research

Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort
Common Variable Immunodeficiency (CVID), a complex primary immunodeficiency syndrome defined by defective B cell responses to infection and vaccination, has heterogeneous clinical manifestations. Gastrointestinal (GI) complications in CVID, both infectious and non-infectious, can cause significant impairment leading to malabsorption and frank malnutrition. In order to better characterize the spectrum of GI disease associated with CVID, we describe 114 patients with GI disease (15.6%) from our 728 patient single center CVID cohort. Norovirus, Giardia and Cytomegalovirus were the most frequently isolated infectious pathogens...
Source: Frontiers in Immunology - August 30, 2023 Category: Allergy & Immunology Source Type: research

Role of the pioneer transcription factor GATA2 in health and disease
J Mol Med (Berl). 2023 Aug 25. doi: 10.1007/s00109-023-02359-8. Online ahead of print.ABSTRACTThe transcription factor GATA2 is involved in human diseases ranging from hematopoietic disorders, to cancer, to infectious diseases. GATA2 is one of six GATA-family transcription factors that act as pioneering transcription factors which facilitate the opening of heterochromatin and the subsequent binding of other transcription factors to induce gene expression from previously inaccessible regions of the genome. Although GATA2 is essential for hematopoiesis and lymphangiogenesis, it is also expressed in other tissues such as the ...
Source: Atherosclerosis - August 25, 2023 Category: Cardiology Authors: Amena Aktar Bryan Heit Source Type: research

Role of the pioneer transcription factor GATA2 in health and disease
J Mol Med (Berl). 2023 Aug 25. doi: 10.1007/s00109-023-02359-8. Online ahead of print.ABSTRACTThe transcription factor GATA2 is involved in human diseases ranging from hematopoietic disorders, to cancer, to infectious diseases. GATA2 is one of six GATA-family transcription factors that act as pioneering transcription factors which facilitate the opening of heterochromatin and the subsequent binding of other transcription factors to induce gene expression from previously inaccessible regions of the genome. Although GATA2 is essential for hematopoiesis and lymphangiogenesis, it is also expressed in other tissues such as the ...
Source: Molecular Medicine - August 25, 2023 Category: Molecular Biology Authors: Amena Aktar Bryan Heit Source Type: research

Role of the pioneer transcription factor GATA2 in health and disease
AbstractThe transcription factor GATA2 is involved in human diseases ranging from hematopoietic disorders, to cancer, to infectious diseases. GATA2 is one of six GATA-family transcription factors that act as pioneering transcription factors which facilitate the opening of heterochromatin and the subsequent binding of other transcription factors to induce gene expression from previously inaccessible regions of the genome. Although GATA2 is essential for hematopoiesis and lymphangiogenesis, it is also expressed in other tissues such as the lung, prostate gland, gastrointestinal tract, central nervous system, placenta, fetal ...
Source: Journal of Molecular Medicine - August 25, 2023 Category: Molecular Biology Source Type: research

Relationship of Bone Mineral Density with CD4+ T Cell Counts and Association of Muscle Mass with B Cells in Common Variable Immunodeficiency Patient
CONCLUSION: CVID patients presented with low BMD, which was associated with CD4+ count. Moreover, low muscle parameters were correlated with B cell count.PMID:37608677 | DOI:10.2174/1871530323666230822100031 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - August 23, 2023 Category: Drugs & Pharmacology Authors: Daniel Barreto-de-Melo Rosa Maria Rodrigues Pereira Bruno Sini D ébora Levy Lilian Takayama Cristina Maria Kokron Ana Karolina Berselli Marinho Octavio Grecco Jorge Elias Kalil Filho Myrthes Toledo Barros Source Type: research

Relationship of Bone Mineral Density with CD4+ T Cell Counts and Association of Muscle Mass with B Cells in Common Variable Immunodeficiency Patient
CONCLUSION: CVID patients presented with low BMD, which was associated with CD4+ count. Moreover, low muscle parameters were correlated with B cell count.PMID:37608677 | DOI:10.2174/1871530323666230822100031 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - August 23, 2023 Category: Endocrinology Authors: Daniel Barreto-de-Melo Rosa Maria Rodrigues Pereira Bruno Sini D ébora Levy Lilian Takayama Cristina Maria Kokron Ana Karolina Berselli Marinho Octavio Grecco Jorge Elias Kalil Filho Myrthes Toledo Barros Source Type: research

Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis
Haploinsufficiency of GATA2, also known as GATA2 deficiency, leads to a wide spectrum of clinical manifestations. Here we described another 28-year-old man with a GATA2 variant who also suffered from hemophagocytic lymphohistiocytosis(HLH), who was finally diagnosed with HLH triggered by Mycobacterium avium bloodstream infection due to primary immunodeficiency. We reviewed GATA2 deficiency patients with HLH and found that GATA2 variants causing loss of zinc finger domains were associated with HLH, and erythema nodosa might be an accompanying symptom. (Source: Frontiers in Immunology)
Source: Frontiers in Immunology - August 23, 2023 Category: Allergy & Immunology Source Type: research

Single-cell RNA sequencing and multiple bioinformatics methods to identify the immunity and ferroptosis related biomarkers of SARS-CoV-2 infections to ischemic stroke
CONCLUSION: We believe these genes (B4GALT5, CRISPLD2, F5, ACSL1, CREB5) may regulate the immune response and ferroptosis of multiple immune cells, mainly including monocytes, which may contribute to the development of COVID-19-related IS. In addition, these genes may be potential targets for the treatment of COVID-19-related IS.PMID:37606960 | DOI:10.18632/aging.204966 (Source: Aging)
Source: Aging - August 22, 2023 Category: Biomedical Science Authors: Xiang Zhao Qingyu Liang Hao Li Zhitao Jing Dongmei Pei Source Type: research

Diagnosis of mixed infection and a primary immunodeficiency disease using next-generation sequencing: a case report
Major Histocompatibility Complex Class II (MHC II) deficiency is a rare primary immunodeficiency disorder (PID) with autosomal recessive inheritance pattern. The outcome is almost fatal owing to delayed diagnosis and lacking of effective therapy. Therefore, prompt diagnosis, timely and effective treatment are critical. Here, we report a 117-day-old boy with diarrhea, cough, cyanosis and tachypnea who was failed to be cured by empiric antimicrobial therapy initially and progressed to severe pneumonia and respiratory failure. The patient was admitted to the pediatric intensive care unit (PICU) immediately and underwent a ser...
Source: Frontiers in cellular and infection microbiology - August 22, 2023 Category: Microbiology Source Type: research

Genetic screening in a Brazilian cohort with inborn errors of immunity
Inherited genetic defects in immune system-related genes can result in Inborn Errors of Immunity (IEI), also known as Primary Immunodeficiencies (PID). Diagnosis of IEI disorders is challenging due to overlapp... (Source: BMC Genetics)
Source: BMC Genetics - August 17, 2023 Category: Genetics & Stem Cells Authors: Cristina Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimar ães, Flavia Amendola Anisio de Carvalho, Bárbara Carvalho Santos dos Reis, Fernanda Pinto-Mariz, Monica Soares de Souza, Zilton Farias Mei Tags: Research Source Type: research

Expression and clinical significance of PD-1 in UCEC and its Impact on tumor
This study provides a further theoretical basis and reference for targeted therapy against PD1.PMID:37571885 | DOI:10.14715/cmb/2023.69.5.26 (Source: Cellular and Molecular Biology)
Source: Cellular and Molecular Biology - August 12, 2023 Category: Molecular Biology Authors: Fengjuan Xing Yan Yang Wei Zheng Source Type: research

Expression and clinical significance of PD-1 in UCEC and its Impact on tumor
This study provides a further theoretical basis and reference for targeted therapy against PD1.PMID:37571885 | DOI:10.14715/cmb/2023.69.5.26 (Source: Mol Biol Cell)
Source: Mol Biol Cell - August 12, 2023 Category: Molecular Biology Authors: Fengjuan Xing Yan Yang Wei Zheng Source Type: research