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.

Wiskott-Aldrich syndrome: A new synonym mutation in the WAS gene
This study summarizes the diagnosis and treatment process of the patient and expands the genetic spectrum of WAS.PMID:38404734 | PMC:PMC10883844 | DOI:10.5582/irdr.2023.01102 (Source: Cell Research)
Source: Cell Research - February 26, 2024 Category: Cytology Authors: Yuxin Sun Xiaomin Song Hua Pan Xiaoxuan Li Lirong Sun Liang Song Fei Ma Junnan Hao Source Type: research

Immune deficiency and the gut
This article aims to raise awareness of PID-associated GI complications and highlight key features within GI presentations that may indicate an underlying PID. (Source: Medicine)
Source: Medicine - February 26, 2024 Category: Internal Medicine Authors: Lucy Leeman Tags: Infection Source Type: research

A case of naganishial pleuritis in a kidney transplant recipient
Herein, we describe the unusual case of a kidney transplant patient who presented with left pleural effusion. The diagnosis of Naganishia-related pleural effusion was ultimately confirmed through pleuroscopy with pleural nodule biopsy. AbstractTheNaganishia species is a mycosis, previously classified as a non-neoformans Cryptococcus species. The increased number of naganishial infections occurs predominantly in immunocompromised conditions, especially in people living with HIV with low CD4 cell count, primary immunodeficiencies, and iatrogenic immunosuppression. The lungs can serve as the primary site of infection, leading...
Source: Respirology Case Reports - February 24, 2024 Category: Respiratory Medicine Authors: Tanapat Tassaneeyasin, Dararat Eksombatchai, Prawat Chantharit, Arunee Singhsnaeh, Viboon Boonsarngsuk Tags: CASE REPORT Source Type: research

Disseminated nocardiosis and anti-GM-CSF antibodies
We report an apparently immunocompetent woman presenting with disseminated nocardiosis without any evidence of PAP. Clinical data and radiological images were retrospectively collected. Lymphocyte populations were analyzed by flow cytometry. Anti-GM-CSF autoantibodies were measured by ELISA. A 55-year-old otherwise healthy woman presented with cerebral and pulmonary abscesses. Personal and familial history of infections or autoimmunity were negative. After extensive examinations, a final diagnosis of disseminated nocardiosis was made. Immunologic investigations including neutrophilic function and IFN- γ/IL-12 circuitry fa...
Source: European Journal of Clinical Microbiology and Infectious Diseases - February 20, 2024 Category: Microbiology Source Type: research

Facilitated subcutaneous immunoglobulin treatment patterns in pediatric patients with primary immunodeficiency diseases
Immunotherapy, Ahead of Print. (Source: Immunotherapy)
Source: Immunotherapy - February 16, 2024 Category: Allergy & Immunology Authors: Monika Mach-Tomalska Anna Pituch-Noworolska Ewa Bie ń Magdalena Malanowska Edyta Machura Anna Pukas-Bochenek Ewelina Chrobak Ma łgorzata Pac Barbara Pietrucha Szymon Dryga ła Marta Kamieniak Jakub Kasprzak Edyta Heropolita ńska-Pliszka Source Type: research

A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome
AbstractB cells and their secreted antibodies are fundamental for host-defense against pathogens. The generation of high-affinity class switched antibodies results from both somatic hypermutation (SHM) of the immunoglobulin (Ig) variable region genes of the B-cell receptor and class switch recombination (CSR) which alters the Ig heavy chain constant region. Both of these processes are initiated by the enzyme activation-induced cytidine deaminase (AID), encoded byAICDA. Deleterious variants inAICDA are causal of hyper-IgM syndrome type 2 (HIGM2), a B-cell intrinsic primary immunodeficiency characterised by recurrent infecti...
Source: Journal of Clinical Immunology - February 16, 2024 Category: Allergy & Immunology Source Type: research

Drug-Induced Progressive Multifocal Leukoencephalopathy (PML): A Systematic Review and Meta-Analysis
ConclusionsA higher risk of drug-related PML in patients whose immune system is not additionally depressed by means of neoplasms, HIV or concomitant medications is found in the neurological field. This risk is higher in MS treatment, and specifically during long-term natalizumab therapy. While this drug is still routinely prescribed in this field, considering the efficacy in reducing MS relapses, in other areas it could play a smaller role, and be gradually replaced by other safer and more recently approved agents. (Source: Drug Safety)
Source: Drug Safety - February 7, 2024 Category: Drugs & Pharmacology Source Type: research

Effect of allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease in children: A multicentre, retrospective cohort study in China
In conclusion, through this study, we have demonstrated that allo-HSCT has excellent efficacy in the treatment of CGD in children, especially, RD-haplo is associated with a lower rate of graft failure incidence and mortality than the treatment modalities of other donor type. Therefore, allo-HSCT is strongly recommended when a well-matched donor is available. If a well-matched donor is not available, the HLA-mismatched donor should be carefully evaluated, and the conditioning regimen modified accordingly.PMID:38309448 | DOI:10.1016/j.clim.2024.109919 (Source: Clinical Immunology)
Source: Clinical Immunology - February 3, 2024 Category: Allergy & Immunology Authors: Yingjian Si Ying Dou Xiaowen Zhai Chen Zhou Wei Lu Yan Meng Xiaowen Qian Jing Chen Ping Wang Changying Luo Jie Yu Xiangfeng Tang Source Type: research

Epigenetic immune cell quantification for diagnostic evaluation and monitoring of patients with inborn errors of immunity and secondary immune deficiencies
CONCLUSION: Epigenetic immune cell quantification is suitable for immune cell profiling in PID patients.PMID:38307474 | DOI:10.1016/j.clim.2024.109920 (Source: Clinical Immunology)
Source: Clinical Immunology - February 2, 2024 Category: Allergy & Immunology Authors: Neftali J Ramirez Janika J Schulze Steffi Walter Jeannette Werner Pavla Mrovecova Sven Olek Christoph Sachsenmaier Bodo Grimbacher Ulrich Salzer Source Type: research

Common Variable Immunodeficiency with Human Herpes Virus 6 Reactivation in Ukrainian Secondary Hypersensitivity Vasculitis Patients
This study analyzes lymphocyte phenotypic characteristics of patients with CVID and HHV6 reactivation having secondary hypersensitivity vasculitis. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - February 1, 2024 Category: Allergy & Immunology Authors: Kh. Lishchuk-Yakymovych, V. Chopyak, R. Pukalyak, O. Synenkyy, N. Mazepa, Lawrence Dubuske Source Type: research

Increasing Awareness of Monogenic Variants in Primary Immunodeficiency Diseases with Immune Dysregulation: A Single JMF Center Experience
Patients with primary immunodeficiency diseases (PID) present with recurrent infections, autoimmunity, autoinflammatory disorders, severe allergies, malignancy, and/or lymphoproliferation. Genetic diagnosis enhances the overall resolution of immune diseases by enabling a comprehensive understanding of the molecular mechanisms underlying the disease. Recently, there has been an increase in the diagnosis of immune dysregulation among patients with PID, attributed to the novel discoveries of monogenic variants. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - February 1, 2024 Category: Allergy & Immunology Authors: Merve Nida Gokbak, David Potts, Melis Yilmaz, Serena Shaffren, Constance Bindernagel, Kranthi Nomula, Alina Ramirez, Joseph Dasso, Jessica Quinn, Vanessa Tenembaum, Vicki Modell, Fred Modell, Jolan Walter Source Type: research

Outcomes of T Cell Receptor Excision Circle (TREC) Based Severe Combined Immunodeficiency (SCID) Newborn Screening (NBS) in Michigan: 10 Year Data
TREC-based NBS for detection of primary immunodeficiency disorders was adopted in Michigan in October 2011. Our aim is to report the incidence of SCID and non-SCID/thymic related lymphopenia and their outcomes in the first 10 years of the TREC-based NBS in Michigan (1/2012-11/2021). (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - February 1, 2024 Category: Allergy & Immunology Authors: Devika Pillay, Aishwarya Navalpakam, Rebecca Shaulis, Mary Rhuehle, Isabel Hurden, Jenny Huang, Pavadee Poowuttikul Source Type: research

Utilization of Next Generation Sequencing to Define the Role of Heterozygous FOXN1 Mutations in Immune Disorders
The Forkhead-box protein N1 (FOXN1) transcription factor plays an essential role in the development of thymic epithelial cells, required for T cell differentiation, maturation, and function. Biallelic pathogenic variants in FOXN1 cause severe combined immunodeficiency (SCID). More recently, heterozygous mutations in FOXN1, diagnosed mostly using restricted primary immunodeficiency gene panel testing, were also implicated in being associated with immunodeficiency, with variable severity. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - February 1, 2024 Category: Allergy & Immunology Authors: Yehonatan Pasternak, Linda Vong, Daniele Merico, Laura Abrego Fuentes, Ori Scott, Marina Sham, Meghan Fraser, Abby Watts-Dickens, Jessica Willett Pachul, Vy Kim, Christian Marshall, Stephen Scherer, Chaim Roifman Source Type: research

Outcomes of Children with a History of Pneumococcal Antibody Testing
Specific antibody deficiency (SAD) is a primary immunodeficiency characterized by recurrent infections in the setting of diminished antibody response to polysaccharide antigens with a normal IgG level. The aim of this study is to assess clinical outcomes and characteristics among patients at a pediatric tertiary care center that underwent pneumococcal antibody testing. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - February 1, 2024 Category: Allergy & Immunology Authors: Grace Hendrickson, Kelsey Lecerf, Rebecca Scherzer Source Type: research