Chronic Kidney Disease in Common Variable Immunodeficiency: a Multicenter Study

J Clin Immunol. 2025 May 23;45(1):97. doi: 10.1007/s10875-025-01890-2. ABSTRACT PURPOSE: There are few reports of renal involvement in Common Variable Immunodeficiencies (CVID) and, when present, is due to infections, inflammation, or treatments. The aim of this study was evaluating the prevalence of chronic kidney disease (CKD) and to identify CVID-related clinical, laboratory and therapeutic features … Read more

Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID

J Clin Immunol. 2025 May 15;45(1):94. doi: 10.1007/s10875-025-01887-x. ABSTRACT Severe combined immunodeficiency (SCID) is a heterogeneous genetic disease characterized by severe T-cell lymphopenia with a profound impairment of T- and B-cells’ function and, in some types, also NK cells. Hematopoietic cell transplantation (HCT) is the only curative treatment currently available in Brazil. Late diagnosis and … Read more

Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis

J Clin Immunol. 2025 May 13;45(1):92. doi: 10.1007/s10875-025-01880-4. ABSTRACT BACKGROUND: Although some reports indicate ocular involvement in Inborn Errors of Immunity (IEI) patients, the characteristics of this association remain unclear. Increased awareness can facilitate early diagnosis and prevention of visual complications. OBJECTIVE: To determine the prevalence and characterize ophthalmological manifestations in patients with IEI. METHODS: … Read more

Deepening Understanding of the Clinical Features and Diagnostic Approaches to Anti-Interferon-Gamma Autoantibody Associated Adult-Onset Immunodeficiency in the Last 20 Years: A Case Report and Literature Review

J Clin Immunol. 2025 May 13;45(1):93. doi: 10.1007/s10875-025-01885-z. ABSTRACT Anti-interferon-gamma autoantibody (AIGA)-associated adult-onset immunodeficiency (AOID) is an emerging disease that can lead to serious opportunistic infections, which has a history of 20 years since it was first reported in 2004. It’s a hard-detected AOID caused by AIGA. In recent years, there has been an increasing … Read more

Quality of Life in Japanese Patients with Primary Immunodeficiency Disease is Disrupted throughout the Year

J Clin Immunol. 2025 May 7;45(1):90. doi: 10.1007/s10875-025-01869-z. ABSTRACT Patients with primary immunodeficiency disease (PID) have an increased susceptibility to infection and may experience negative impacts on health-related quality of life (HR-QOL) and activities of daily living. This prospective observational study of patients aged ≥ 12 years with PID assessed HR-QOL, work impairment, and disease-related … Read more

A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD

J Clin Immunol. 2025 Apr 28;45(1):89. doi: 10.1007/s10875-025-01882-2. ABSTRACT Monogenic defects that impair the control of inflammation and tolerance lead to profound immune dysregulation, including autoimmunity and atopy. Studying these disorders reveals important molecular and cellular factors that regulate human immune homeostasis and identifies potential precision medicine targets. Here, we provide a detailed immunological assessment … Read more

Amyloidosis in Human Inborn Errors of Immunity Predicts Poor Prognosis

J Clin Immunol. 2025 Apr 23;45(1):88. doi: 10.1007/s10875-025-01875-1. ABSTRACT PURPOSE: Chronic inflammation in inborn errors of immunity(IEI) caused by the infections or immune dysregulation is associated with the amyloid A (AA) amyloidosis development. This study aims to analyze the clinical characteristics, management strategies, and outcomes of patients with IEI complicated by AA amyloidosis, focusing on … Read more

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