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.

Neurological involvement in patients with primary immunodeficiency
CONCLUSION: In this study, we describe the various neurologic findings of patients with PID. The neurologic presentation may represent the initial manifestation of certain types of PID. Early diagnosis and treatment are essential to prevent or reduce further neurologic damages.PMID:38186198 | DOI:10.15586/aei.v52i1.961 (Source: Allergologia et Immunopathologia)
Source: Allergologia et Immunopathologia - January 8, 2024 Category: Allergy & Immunology Authors: Hulya Kose Zuhal Karali Muhittin Bodur Sukru Cekic Sara Sebnem Kilic Source Type: research

Population pharmacokinetics of immunoglobulin G after intravenous, subcutaneous, or hyaluronidase-facilitated subcutaneous administration in immunoglobulin-naive patients with primary immunodeficiencies
This study used population pharmacokinetic (popPK) model-based simulations to characterize IgG PKs in IgG-naive patients with varying disease severity across several IVIG, SCIG, and fSCIG dosing regimens. An integrated popPK model, developed and validated using data from eight clinical trials, was utilized to simulate scenarios that varied by therapy, loading regimen, maintenance dose (equivalent to 400, 600, or 800 mg/kg every 4 weeks [Q4W]), and baseline endogenous total IgG concentration (1.5 or 4.0 g/L). Simulations were performed for age groups of 2-<6, 6-<12, 12-<18, and ≥18 years. Steady-state serum troug...
Source: International Immunopharmacology - January 7, 2024 Category: Allergy & Immunology Authors: Zhaoyang Li Kristin Follman Ed Freshwater Frank Engler Leman Yel Source Type: research

Periodontal disease in patients with WHIM syndrome
CONCLUSIONS: Overall, WHIM syndrome patients presented with an increased severity of periodontitis despite past and ongoing neutrophil mobilization treatments. GOF mutations in CXCR4 may be a risk factor for periodontitis in humans.PMID:38185798 | DOI:10.1111/jcpe.13940 (Source: Journal of Clinical Periodontology)
Source: Journal of Clinical Periodontology - January 7, 2024 Category: Dentistry Authors: Laurie Brenchley David H McDermott Pamela J Gardner Lakmali M Silva Ji-Liang Gao Elena Cho Daniel Velez Niki M Moutsopoulos Philip M Murphy David Fraser Source Type: research

Good syndrome and cytomegalovirus retinitis: A literature review.
Good Syndrome (GS) is a rare primary immunodeficiency in adults consisting of hypogammaglobulinemia and thymoma that affects both cellular and humoral immunity. It usually appears in patients between the 4th and 6th decade of life and affects both genders equally. Ophthalmological clinical presentation is highly variable; associations with herpetic keratitis, toxoplasmosis, and cytomegalovirus retinitis (CMVR) have been described. GS associated with CMVR is uncommon. Ophthalmologists may be the first to diagnose systemic disease and change the outcome. (Source: Survey of Ophthalmology)
Source: Survey of Ophthalmology - January 2, 2024 Category: Opthalmology Authors: Carolina Cantu-Rosales, Pablo Baquero-Ospina, Samuel Pe ña-Ortiz, Jahzeel Díaz-Castillo, Luz-Elena Concha-del-Rio Tags: Review article Source Type: research

Generation of a human iPSC line (CHCMUi002-A) from peripheral blood mononuclear cells from a chronic granulomatous disease patient
Stem Cell Res. 2023 Dec 7;74:103269. doi: 10.1016/j.scr.2023.103269. Online ahead of print.ABSTRACTChronic granulomatous disease (CGD) is a rare X-linked recessive primary immunodeficiency disease (PID). Herein, a human induced pluripotent stem cell (iPSC) line was generated from the peripheral blood mononuclear cells (PBMCs) of a CGD patient with a mutation (c.785_786delTT) in the CYBB gene. These iPSCs showed the expression of pluripotency markers, the ability to differentiate into three germ layers. They offer a promising technique for studying the pathogenesis and conducting drug screening for CGD patients.PMID:3813457...
Source: Cell Research - December 22, 2023 Category: Cytology Authors: Anle Zeng Ke Ni Shuyu Fang Lang Yu Yelei Gao Lina Zhou Xiaodong Zhao Source Type: research

A Phase 1 Open-Label Study to Assess the Tolerability, Safety, and Immunogenicity of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 20% in Healthy Adults
ConclusionfSCIG 20% was well-tolerated with a favorable safety profile in healthy adults. Future studies will evaluate fSCIG 20% in primary immunodeficiency diseases.Trial registration number (ClinicalTrials.gov): NCT05059977 (registered 28 September 2021). (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research

CVID With Unusual Peripheral Mononeuropathy and Associated IL-7 Receptor Mutation
We present a case of CVID with peripheral neuropathy and a pathogenic heterozygous variant of IL-7 receptor gene. The patient is a 38-year-old female with a history of recurrent infections since childhood including pneumonia and sinus infections status post tonsillectomy and sinus surgery. She subsequently developed severe left leg and lower back pain that progressed to left foot drop and decreased sensation over the left leg. She was found to have severe hypogammaglobulinemia and poor polysaccharide and protein response, thus meeting criteria for CVID. Mononeuropathy is a rare finding in CVID. Genetic panel was performed ...
Source: Military Medicine - December 21, 2023 Category: International Medicine & Public Health Authors: Joseph Baxter Aubri Waters Source Type: research

Effects of Banxia Baizhu Tianma Decoction in alleviating atherosclerosis based on the regulation of perivascular adipose
CONCLUSIONS: BBTD reduces the vulnerability of atherosclerotic plaques and inhibits the inflammatory phenotype of perivascular adipose tissue.PMID:38103846 | DOI:10.1016/j.jep.2023.117575 (Source: Atherosclerosis)
Source: Atherosclerosis - December 16, 2023 Category: Cardiology Authors: Jianqiao Chen Lin Wang Yongcheng Wang Ao Jin Sutong Wang Xiao Li Yue-Hua Jiang Source Type: research