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Molecules. 2025 Apr 8;30(8):1663. doi: 10.3390/molecules30081663.

ABSTRACT

Lacquer trees are an important economic tree species in China, and raw lacquer is its main secondary metabolite. Polyphenolic compounds are the primary components of raw lacquer, among which diene urushiol exhibits high inhibitory activity against the reverse transcriptase of acquired immunodeficiency syndrome (AIDS). Therefore, this study established and optimized the ultrasound-assisted extraction process of diene urushiol from lacquer tree leaves. Based on single-factor experiments on the number of extractions, extraction time, extraction temperature, and solvent to solid ratio, the Box-Behnken Design response surface methodology was employed to obtain the optimal extraction process, which included three extractions, an extraction time of 55 min, an extraction temperature of 50 °C, and a solvent to solid ratio of 10:1 mL/g. Under these conditions, the content of diene urushiol was 4.56 mg/g (FW), which bore no significant difference from the theoretical value of 4.69 mg/g (FW), indicating a good model fit. Therefore, response surface methodology (RSM) can be used to optimize the extraction process of diene urushiol from lacquer leaves. This method lays a solid foundation for the comprehensive development and utilization of lacquer tree resources.

PMID:40333583 | DOI:10.3390/molecules30081663

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 daily burden over a full year, with a focus on seasonal variation. The study period was from October 2021 to November 2023. Data were collected using an online system. HR-QOL was assessed using EuroQol-5 Dimensions-5 Levels (EQ-5D-5L) and the Medical Outcomes Study 36-Item Short Form Health Survey (SF-36), work impairment with the Work Productivity and Activity Impairment (WPAI) questionnaire, and disease-related burden with a questionnaire designed for this study. In patients with PID (N = 56) and healthy volunteers (N = 43), no significant seasonal variation was observed in EQ-5D-5L, SF-36, or WPAI scores. With few exceptions, patients with PID had significantly lower EQ-5D-5L, SF-36, and WPAI scores than healthy volunteers in all seasons. In patients with PID, disease-related symptoms and limitations of daily living persisted throughout the year, regardless of season. In conclusion, patients with PID had lower quality of life and were more socially, physically, and mentally stressed in all seasons compared with healthy individuals.

PMID:40332698 | DOI:10.1007/s10875-025-01869-z

J Coll Physicians Surg Pak. 2025 May;35(5):580-584. doi: 10.29271/jcpsp.2025.05.580.

ABSTRACT

OBJECTIVE: To establish cascade family screening of newly diagnosed hereditary angioedema (HAE) patients.

STUDY DESIGN: Cross-sectional, observational study. Place and Duration of the Study: Department of Immunology, The Armed Forces Institute of Pathology / CMH / NUMS, Rawalpindi, Pakistan, from September 2021 to June 2024.

METHODOLOGY: Eighty-nine parents, siblings, and children of 10 diagnosed patients of HAE were screened. Thirty-two family members were screened by using C1 esterase and complement C4 levels, whereas 57 patients were not available or willing for blood samples, and a questionnaire designed for HAE was recorded from patients / index cases. Baseline characteristics of HAE-Index and HAE-Screened patients were analysed using inferential statistics (independent t-test, Chi-square / Fisher’s exact, and Mann-Whitney U test), selected based on data distribution (assessed by the Shapiro-Wilk’s test).

RESULTS: A total of 10 cases were followed for screening in families. Upon cascade screening of 89 individuals, 16 confirmed and 24 probable cases of HAE among family members (symptomatic and asymptomatic) were identified. Out of these 40 positive patients, 26 were male and 14 were female. Three patients among these screened individuals died secondary to laryngeal oedema. Out of ten index cases, two did not have any family history of hereditary angioedema, hence suspected for de novo mutation in the SERPING-1 gene.

CONCLUSION: Cascade screening helps in facilitating early diagnosis of asymptomatic or mildly symptomatic family members of HAE patients. This will provide better guidance for avoiding potential triggers, appropriate prophylaxis, and better management of HAE patients. Young patients of HAE need genetic counselling for a 50% risk of HAE in offspring and are recommended for prenatal diagnosis.

KEY WORDS: C1 esterase, C4, Hereditary angioedema, Laryngeal oedema, Screening.

PMID:40325573 | DOI:10.29271/jcpsp.2025.05.580

BMJ Case Rep. 2025 May 5;18(5):e262190. doi: 10.1136/bcr-2024-262190.

ABSTRACT

Intestinal atresia is one of the causes of bowel obstruction in the neonatal period. Hereditary multiple intestinal atresia (HMIA) is a rare form of intestinal atresia due to autosomal recessive inherited disease affecting the tetratricopeptide repeat domain-7A gene. This condition has been associated with primary immunodeficiency. Here, we report an infant who was diagnosed with HMIA and found to have secondary immune deficiency due to protein-losing enteropathy.

PMID:40324929 | DOI:10.1136/bcr-2024-262190

Cureus. 2025 Apr 3;17(4):e81647. doi: 10.7759/cureus.81647. eCollection 2025 Apr.

ABSTRACT

We report a case of a 38-year-old female with a past medical history of lymph node tuberculosis treated for six months in 2015, history of bronchiectasis from the past six years, and recurrent sinopulmonary infections, who was subsequently diagnosed to have common variable immunodeficiency (CVID). She had reduced levels of immunoglobulins during our diagnostic workup, after ruling out hematological malignancy and solid tumors. CVID is a highly heterogeneous group of disorders characterized by a primary defect in immunoglobulin production and an inability to mount a specific humoral response against exogenous antigens. The most frequently reported pulmonary manifestations of CVID are infectious pneumonias. Bronchiectasis, resulting from recurrent infections, is the third most common pulmonary manifestation observed in CVID patients, following pneumonia and bacterial bronchitis. The therapeutic management of CVID focuses on evaluating complications, with particular emphasis on the risks of bronchial dystrophy (bronchiectasis) and bronchial colonization by antibiotic-resistant pathogens. Respiratory physiotherapy is a key element in the management of bronchial suppuration. Treatment for CVID mainly consists of immunoglobulin replacement therapy, administered intravenously or subcutaneously, which must be given for life.

PMID:40322360 | PMC:PMC12048885 | DOI:10.7759/cureus.81647

Pediatr Allergy Immunol. 2025 May;36(5):e70100. doi: 10.1111/pai.70100.

ABSTRACT

BACKGROUND: Severe combined immunodeficiency (SCID) is a fatal but treatable inborn error of immunity (IEI). Newborn screening (NBS) using T-cell receptor excision circles (TREC) has been adopted globally, with very few countries incorporating kappa recombination excision circles (KREC) to also detect early B-cell development disorders, such as X-linked agammaglobulinemia (XLA).

OBJECTIVE: To evaluate the effectiveness of a 2-year pilot SCID NBS program in the Czech Republic, emphasising the utility of combined TREC/KREC screening.

METHODS: Between January 2022 and December 2023, a dual TREC/KREC NBS pilot was conducted across the Czech Republic, alongside spinal muscular atrophy (SMA) screening. Approximately 200,000 newborns were screened using quantitative real-time PCR on dried blood spots collected 48-72 h after birth.

RESULTS: The pilot referred 58 newborns, identifying 21 cases of IEI, including two SCID cases, with an overall incidence of TREC/KREC screenable IEI of 10.5/100,000 newborns. SCID incidence was 1/100,000. KREC screening proved invaluable, detecting 10 cases of congenital agammaglobulinemia including novel non-XLA forms, which increased the estimated incidence of agammaglobulinemia in the Czech Republic sixfold. Over one-third of low KREC results were linked to maternal immunosuppression.

CONCLUSION: The Czech pilot demonstrated the effectiveness of integrated TREC/KREC NBS in detecting both T- and B-cell immunodeficiencies. As of 2024, SCID and SMA screening are included in the nationwide NBS, with KREC screening significantly improving early detection of B-cell disorders.

PMID:40321024 | DOI:10.1111/pai.70100

Expert Rev Clin Immunol. 2025 May 4. doi: 10.1080/1744666X.2025.2500608. Online ahead of print.

ABSTRACT

BACKGROUND: Clinical and immunological manifestations associated with genetic alterations are crucial for understanding inborn errors of immunity (IEI). This study aims to characterize the clinical and immunological profiles and provide the molecular features of IEI patients from the Iranian population with IEI who harbor rare variants in the nuclear factor kappa B (NF-κB) pathway.

RESEARCH DESIGN AND METHODS: Peripheral blood mononuclear cells (PBMCs) were used for immunophenotyping of B and T lymphocyte subsets via flow cytometry and for assessing T cell proliferation. Immunoblotting was performed to evaluate the expression levels of NF-κB proteins.

RESULTS: This multi-center study enrolled 16 patients with mutations in the NFKB1, NFKB2, IKBKB, and IKBKG genes. NFKB1 and NFKB2 mutations were heterozygous, while IKBKB mutations were homozygous and the IKBKG mutation was hemizygous. Patients exhibited hypogammaglobulinemia and switched memory B cell abnormalities. Immunoblotting revealed decreased NF-κB1 protein expression in most cases. Similarly, NFKB2 mutations led to lower protein expression in unstimulated PBMCs, with mild to strong reductions after stimulation, though some cases showed no significant changes.

CONCLUSIONS: This study identifies novel IEI cases associated with NF-κB pathway defects. Further comprehensive evaluation and functional analysis of these mutations are warranted to confirm their impact on disease manifestation.

PMID:40320674 | DOI:10.1080/1744666X.2025.2500608

Orphanet J Rare Dis. 2025 May 3;20(1):212. doi: 10.1186/s13023-025-03734-z.

ABSTRACT

BACKGROUND: This study aimed to describe overall survival (OS) of patients with APDS relative to the global population as well as among subsets of patients with concurrent lymphoma or hematopoietic stem cell transplant (HSCT) relative to the overall APDS population.

METHODS: Patient-level data were extracted from a recent systematic literature review of 351 unique patients with APDS. OS was evaluated using the Kaplan-Meier method up to age 65 years. OS rate and corresponding 95% CI were reported at each decade of age. Global mortality estimates were obtained from World Health Organization life tables for 2019.

RESULTS: Of the 351 patients with APDS (APDS1, 267 [76.1%]; APDS2, 83 [23.6%]; unspecified, 1 [0.3%]), 41 (11.7%) died. The OS rate was 25.0% (95% CI, 1.6-62.7%) by the last death event at 64 years of age. Starting at 12 years of age, the OS rate was numerically lower in patients with APDS relative to the global population (median OS, 64 vs. 75 years, respectively). Relative to the overall APDS population, OS rates were numerically similar in those who underwent HSCT (median OS, 64 years for both; p = 0.569), whereas OS rates were numerically lower in patients with concurrent lymphoma (median OS, 41 vs. 64 years, respectively; p = 0.109). Publication bias in source data was a possible limitation.

CONCLUSION: Reduced survival in patients with APDS suggests a high disease burden, particularly in those with concurrent lymphoma. These results highlight the unmet need for disease-modifying treatments for APDS.

PMID:40319290 | DOI:10.1186/s13023-025-03734-z

Allergy Asthma Clin Immunol. 2025 May 2;21(1):20. doi: 10.1186/s13223-025-00963-6.

ABSTRACT

BACKGROUND: Hyper-IgE Syndrome, also known as Job’s syndrome, is a rare primary immunodeficiency disorder characterized by recurrent infections and elevated levels of immunoglobulin E. While respiratory and systemic manifestations have been more emphasized, dermatological manifestations in Hyper-IgE Syndrome also play a significant role in disease presentation.

METHODS: This narrative review explores the dermatologic presentations of Hyper-IgE Syndrome in pediatric populations, including descriptions, associated symptoms/findings, and available treatment options.

RESULTS AND CONCLUSION: Neonatal rash, mucocutaneous candidiasis, noma neonatorum, psoriasis, cold staphylococcal abscesses, and candida onychomycosis are among the dermatological manifestations of Hyper-IgE Syndrome. Each manifestation has unique characteristics and treatment considerations, necessitating accurate recognition and diagnosis for effective management. Optimal treatment strategies involve a combination of supportive care, topical/systemic therapies, antifungal medications, and surgical interventions when necessary. Further research is needed to enhance our understanding of these manifestations and evaluate treatment modalities for individuals affected by Hyper-IgE Syndrome.

PMID:40317072 | DOI:10.1186/s13223-025-00963-6

J Allergy Clin Immunol. 2025 Apr 30:S0091-6749(25)00497-X. doi: 10.1016/j.jaci.2025.04.023. Online ahead of print.

ABSTRACT

BACKGROUND: During the COVID-19 pandemic, many individuals developed persistent symptoms after COVID-19. There is limited data on these long-term effects in the primary immunodeficiency (PID) community.

OBJECTIVE: This study aimed to understand long-term symptoms post-COVID-19 in PID patients, focusing on prevalence, risk factors, viral persistence and the impact of COVID-19 on their health-related quality of life (HR-QoL).

METHODS: A global, multilingual web-based survey was conducted by the International Patient Organisation for Primary Immunodeficiencies (IPOPI) between July and October 2023. Self-reported data on demographics, PID diagnosis, comorbidities, COVID-19, and HR-QoL (EQ-5D-5L) were collected and analyzed.

RESULTS: Among 1,160 respondents, 25% reported persistent symptoms post-COVID-19. Common symptoms included fatigue, headache, and nasal symptoms. These respondents reported a significantly higher prevalence of symptoms across all categories-systemic, pain, cardiopulmonary, gastrointestinal, neurological, psychological, neurocognitive, and others-except upper respiratory tract symptoms, compared to those without persistent symptoms. Independent risk factors for developing persistent symptoms included female sex, asthma, neurological diseases, and predominantly antibody deficiency other than common variable immunodeficiency (CVID) or agammaglobulinemia. Viral clearance was not achieved within one month in 30% of patients with persistent symptoms. HR-QoL declined during the pandemic across all PID categories, even in those without COVID-19, but especially in those with a symptom duration over six months.

CONCLUSION: Persistent symptoms post-COVID-19 are prevalent among PID patients, with various risk factors identified. The COVID-19 pandemic had a considerable impact on the HR-QoL of PID patients, regardless of COVID-19 status.

PMID:40316182 | DOI:10.1016/j.jaci.2025.04.023