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Unveiling the Complexities of Hereditary Angioedema.

Hereditary angioedema (HAE) is a rare and potentially life-threatening genetic disorder, constituting approximately 2% of all clinical cases of angioedema, with a global prevalence estimated between 1 in 50,000 and 1 in 150,000 individuals. The condition affects individuals of all genders and ethnic backgrounds without significant variation. HAE is classified into three types. Type I HAE, which accounts for 85% of cases, is characterized by a deficiency of the C1 esterase inhibitor (C1-INH) gene. Type II HAE, making up 15% of cases, involves a dysfunctional C1-INH. Type III HAE, which represen

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… Complement C4 is a significant diagnostic biomarker in HAE, as its levels are typically reduced in most patients, particularly during attacks [ 54 , 61 ]. … Research has shown that complement C4 levels correlate with the frequency of attacks and the on-demand use of C1-INH concentrate, though they do not correlate with disease severity scores [ 53 , 60 ]. …

Complement C3a activates osteoclasts by regulating the PI3K/PDK1/SGK3 pathway in patients with multiple myeloma.

ObjectiveMyeloma bone disease (MBD) is the most common complication of multiple myeloma (MM). Our previous study showed that the serum levels of C3/C4 in MM patients were significantly positively correlated with the severity of bone disease. However, the mechanism of C3a/C4a in osteoclasts MM patients remains unclear.MethodsThe formation and function of osteoclasts were analyzed after adding C3a/C4a in vitro. RNA-seq analysis was used to screen the potential pathways affecting osteoclasts, and the results were verified by Western blot, qRT-PCR, and pathway inhibitors.ResultsThe osteoclast area

Sex Difference in Primary Sjögren Syndrome: A Medical Records Review Study.

OBJECTIVES: The aim of this study was to study clinical and biological differences between men and women with primary Sjögren syndrome (pSS) in China and perform a literature review to confirm if the clinical phenotypes are affected by sex in patients with pSS. METHODS: Data from 961 patients with pSS treated at a tertiary hospital in China between January 2013 and March 2022 were analyzed based on medical records. Clinical characteristics, including disease manifestations and serological parameters of the disease, were compared between men and women with pSS using the Mann-Whitney U test and

Renal Involvement in Mixed Cryoglobulinemic Vasculitis: Current Perspectives.

Cryoglobulinemia is a rare disorder characterized by the presence of abnormal proteins (cryoglobulins) in the blood that precipitate at low temperatures. It presents with a wide clinical spectrum, from mild symptoms to severe, life-threatening disease. In mixed cryoglobulinemia (MC), vascular damage results from immune complexes-typically monoclonal IgM with rheumatoid factor activity and polyclonal IgG (Type II), or polyclonal/oligoclonal IgM and IgG (Type III). These complexes can obstruct small blood vessels, leading to ischemia and leukocytoclastic vasculitis. Renal involvement occurs in a

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… In a study, in both univariate and multivariate analysis, the isolate decrease in complement C4 levels was significantly associated with complete renal remission, while histological features of moderate–severe interstitial fibrosis and the presence of arteriolosclerosis at kidney biopsy were associated …

Cold versus warm autoimmune hemolytic anemia in diffuse large B cell lymphoma: pathogenic and therapeutic implications: a case series.

BACKGROUND: Autoimmune hemolytic anemia-associated diffuse large B cell lymphoma is rare, with distinct pathogenic mechanisms and therapeutic responses in cold agglutinin syndrome (CAS) and warm autoimmune hemolytic anemia subtypes poorly characterized. This report highlights two novel cases demonstrating subtype-specific molecular drivers and treatment outcomes, underscoring the necessity for precision management. CASE PRESENTATION: Two patients presented with autoimmune hemolytic anemia: a 29-year-old Han male with cold agglutinin syndrome and a 37-year-old Han female with warm autoimmune h

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… Immunoglobulin and complement panel: IgM of 5.02 g/L, complement C4 of 0.03 g/L. Cold agglutinin titer at 4 °C was 1:2048. Pretransfusion immunological screening showed blood type A, RhD-positive, with a positive irregular antibody screen. … | | Total bilirubin | 99.1 | µmol/L Direct bilirubin | 10.7 | µmol/L Indirect bilirubin | 88.4 | µmol/L Lactate dehydrogenase (LDH) | 707 | U/L Immunoglobulin and complement panel | | IgM | 5.02 | g/L Complement C4 | 0.03 | g/L Imaging studies Contrast-enhanced CT of the chest, abdomen, and pelvis …

Infection related membranoproliferative glomerulonephritis secondary to anaplasmosis: A case report.

BACKGROUND: Anaplasmosis is a tick-borne disease with a range of clinical manifestations, from a flu-like illness with fever and myalgias to a severe systemic disease with multisystem organ failure. Although renal involvement is not a common presentation, there have been few cases reporting acute kidney injury from Anaplasmosis. CASE SUMMARY: We present a 55-year-old female with anaplasmosis who developed acute kidney injury due to membranoproliferative glomerulonephritis (MPGN). The patient originally presented with cough and shortness of breath. She was admitted to the hospital with a diagn

Количество пациентов, о которых сообщалось во время и после лечения белантамбом мафодотином в случае рецидива/изъятия множественных миеломы DREAMM-2 Учёба.

ВВЕДЕНИЕ: Пациенты с рецидивной или рефрактной множественной миеломой (RRMMM), вероятно, будут жить с устойчивыми симптомами, особенно болью в костях и усталостью, и испытывать ограничения в их физическом и социальном функционировании, что снижает качество жизни, связанное со здоровьем. МЕТОДЫ: Это качественное исследование позволило оценить взгляды пациентов на то, как они живут с RRMM и лечатся белантамбом мафодотином, используя опросы, проведенные на этапе II. DREAMM-2 судебное разбирательствоNCT03525678) с белантамбом мафодотином. Пациенты дали согласие на участие в 2 Зарегистрированные те

A prospective phase 2 clinical trial of a C5a complement inhibitor for acute GVHD with lower GI tract involvement.

Involvement of lower gastrointestinal tract (LGI) occurs in 60% of patients with graft-versus-host-disease (GVHD). Complement components C3 and C5 are involved in GVHD pathogenesis. In this phase 2a study, we evaluated the safety and efficacy of ALXN1007, a monoclonal antibody against C5a, in patients with newly diagnosed LGI acute GVHD receiving concomitant corticosteroid. Twenty-five patients were enrolled; one was excluded from the efficacy analysis based upon negative biopsy. Most patients (16/25, 64%) had acute leukemia; 52% (13/25) had an HLA-matched unrelated donor; and 68% (17/25) rece

The Complosome: An Emerging Intracellular Complement Network in Cancer Development and Therapy.

The complement system is traditionally recognized as a major effector of innate immunity, essential for pathogen clearance, inflammation and the maintenance of tissue homeostasis. In recent years, however, its role in cancer has been substantially redefined. Beyond its canonical extracellular activity, complement has emerged as a multifaceted regulator of tumor biology, acting not only within the tumor microenvironment but also intracellularly through the recently described intracellular complement system (complosome). While extracellular complement primarily shapes immune responses and the tu

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… Shedding light on the role of complement C4 activation in cancer. Hum. Immunol. 2025;86:111226. doi: 10.1016/j.humimm.2024.111226. 32. Janneh A.H., Kassir M.F., Atilgan F.C., Lee H.G., Sheridan M., Oleinik N., Szulc Z., Voelkel-Johnson C., Nguyen H., Li H., et al. …

Cryoglobulin Test and Cryoglobulinemia Hepatitis C-Virus Related.

Cryoglobulins are immunoglobulins that precipitate in serum at temperatures below 37°C and resolubilize upon warming. The clinical syndrome of cryoglobulinemia usually includes purpura, weakness, and arthralgia, but the underlying disease may also contribute other symptoms. Blood samples for cryoglobulin are collected, transported, clotted and spun at 37°C, before the precipitate is allowed to form when serum is stored at 4°C in a Wintrobe tube for at least seven days. The most critical and confounding factor affecting the cryoglobulin test is when the preanalytical phase is not fully complete

Mixed cryoglobulinemia.

Mixed cryoglobulinemia (MC), type II and type III, refers to the presence of circulating cryoprecipitable immune complexes in the serum and manifests clinically by a classical triad of purpura, weakness and arthralgias. It is considered to be a rare disorder, but its true prevalence remains unknown. The disease is more common in Southern Europe than in Northern Europe or Northern America. The prevalence of 'essential' MC is reported as approximately 1:100,000 (with a female-to-male ratio 3:1), but this term is now used to refer to a minority of MC patients only. MC is characterized by variable

Протеолипид Протеин-1 и его периферальная изоформа DM20 у пациентов с аутоиммунными расстройствами CNS.

: Антитела для протеолипидного белка-1 (PLP1-IgG), крупного центрального миелина, также выраженного в периферической нервной системе (PNS) в качестве изоформы DM20, ранее были идентифицированы главным образом у пациентов с множественным склерозом (MS), с неясными клиническими последствиями. Однако большинство исследований основывалось на неконформационных иммуномассах и охватывало лишь небольшое число пациентов с аутоиммунными расстройствами демиелионации (АДД), не относящимися к ПС CNS. Мы стремились изучить конформацию PLP1-IgG во всем спектре ОДЗ.МЕТОДЫ: Мы разработали новый анализ на основ

Editorial: The Role of Complement in Health and Disease.

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Доклад по делу: Воспаление фенотипа CADASIL, связанного с редким вариантом NoTHH3.

Мы представляем 50-летнюю женщину, которая имеет давнюю историю мигрени с аурой. Она пережила один эпизод частичной потери визуального поля, связанный с небольшим острым/субочное повреждением коры и субкортической белой материи (показание контрастного усиления), наряду с обширной гиперинтенсивностью белой материи. Исходя из этих выводов, КАДАСИЛ был подозреваем. Генетические тесты выявили редкий гетероговый вариант NETCH3 (c.6102dup, p.Gly2035Argfs*60), который в настоящее время классифицируется как вариант неопределенного значения. Анализ конъюнктурной цереброспинарной жидкости показал повыше

Early-stage IgM kappa proliferative glomerulonephritis with monoclonal immunoglobulin deposition presenting with atypical renal insufficiency: a case report and literature review.

INTRODUCTION: Proliferative glomerulonephritis with monoclonal immunoglobulin deposits (PGNMID) is a rare subtype of monoclonal gammopathy of renal significance (MGRS). While the IgG subtype has been well characterized, the IgM-κ variant is extremely rare, with a low detection rate of circulating monoclonal proteins and limited real-world data on its clinical course under conservative management. This case report describes a biopsy-proven IgM-κ PGNMID in an elderly patient with negative hematological screening, to expand the current understanding of this rare entity. PATIENT CONCERNS AND DIAG

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… Serum IgG was 5.76 g/L, complement C3 was 0.96 g/L, and complement C4 was 0.43 g/L. Serum protein electrophoresis showed no monoclonal band, with decreased gamma globulin (8.40%). Both serum and urine immunofixation electrophoresis were negative for monoclonal immunoglobulin and light chains. …

Acute Abdominal Pain as the Initial Presentation of an Acquired C1 Inhibitor Deficiency.

INTRODUCTION: Acquired angioedema (AAE), a rare cause of adult-onset non-urticarial mucocutaneous angioedema, can present as acute abdomen, a frequent complaint in the emergency room (ER), often leading to unnecessary and potentially harmful procedures. CASE PRESENTATION: We report a 47-year-old hypertense male, controlled with an angiotensin converting enzyme inhibitor (ACEI), who presented in the ER with progressively worsening abdominal pain, nausea, and vomiting, and a radiologic workup revealing small intestine thickening, initially diagnosed with ACEI-induced angioedema. However, furthe

Клиникопатологические характеристики и результаты недиабетических реалистических заболеваний у пациентов с типом 2 Диабет: Ретроспективное кохартное исследование.

В рамках этого исследования была проведена оценка клиникопатологических профилей и прогностических траекторий подтипов недиабутических почечных заболеваний (NDRD), соотносящихся с типом 2 - сахарный диабет (T2D). 123 пациенты с доминирующими подтипами NDRD: IgA нефропатия (IgA nephropaticy)T2D-IgAN, n = 52), мембранная нефропатия (T2D-MN, n = 48), и подоцитопатии ()T2D-Podo, n = 23). Мультивариатная коксовая регрессия использовалась для выявления прогнозируемых факторов для результатов почечной деятельности в течение медианного периода последующей деятельности: 80 месяцев (межквартальный диапа

Raised Serum Levels of Syndecan-1 (CD138), in a Case of Acute Idiopathic Systemic Capillary Leak Syndrome (SCLS) (Clarkson's Disease).

BACKGROUND Systemic capillary leak syndrome (SCLS) (Clarkson's disease) is a rare disorder of unknown etiology, characterized by transient episodes of hypotension, and the microvascular leak of fluids into the peripheral tissues, resulting in edema. Between 80-90% of patients with SCLS have a concomitant monoclonal gammopathy. Although translational in vitro studies have implicated vascular endothelial barrier dysfunction in the etiology of SCLS, the etiology and disease associations in clinical cases remain unknown. CASE REPORT We report a case of SCLS in a 49-year-old woman who initially pre

Phase Ib, multicentre, open-label, dose-escalation study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of subcutaneously administered mosunetuzumab in participants with systemic lupus erythematosus.

OBJECTIVE: To determine the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD) of subcutaneously administered mosunetuzumab, a CD20xCD3 T-cell-engaging bispecific antibody, in participants with systemic lupus erythematosus (SLE). METHODS: This phase Ib, multicentre, open-label, dose-escalation study enrolled 15 participants diagnosed with active autoantibody-positive SLE, demonstrated by an SLE Disease Activity Index 2000 (SLEDAI-2K) score ≥4 at screening. The study included two fixed-dosing dose-finding cohorts (1.6 mg or 5 mg of mosunetuzumab on day 1) and three step-up d

Patterns of Glomerular Injury: Histopathological Classification and Clinical Correlation.

Glomerular diseases represent a diverse group of conditions that significantly contribute to chronic kidney disease (CKD) and end-stage renal disease (ESRD) worldwide. Understanding the histopathological patterns of glomerular injury is essential for accurate diagnosis, prognosis, and targeted therapy. This comprehensive review explores the morphologic, immunopathologic, and clinical characteristics of major glomerular disorders, including minimal change disease, focal segmental glomerulosclerosis, membranous nephropathy, immunoglobulin A nephropathy, lupus nephritis, and others. Histological