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Turk J Gastroenterol. 2025 Aug 25;37(1):55-61. doi: 10.5152/tjg.2025.25100.

ABSTRACT

BACKGROUND/AIMS: The aim was to determine the findings of the gastrointestinal system, which is the second most frequently affected system in the primary immunodeficiency (PID) patient population, and the frequency of these findings.

MATERIALS AND METHODS: Fifty patients with PID were included in this study, and the characteristics of the patients, upper gastrointesti nal endoscopy, colonoscopy, and biopsy (endoscopic and colonoscopic) results were evaluated.

RESULTS: The median age of patients included in the study was 31 years (range 18-72 years) and 64% were male. Seventy-two percentnof the patients had common variable immunodeficiency (CVID) and 68% were diagnosed in adulthood. Chronic diarrhea was present in 48% of the patients, and body mass index was lower in this group. Switched memory B cells were lower in chronic diarrhea (P = .003). Twenty-nine patients underwent upper gastrointestinal endoscopy, and the most common macroscopic findings were gastropathy (79.3%), duodenopathy (37.9%), and esophagitis (27.6%). Of the 23 patients who underwent colonoscopy, 14 had at least 1 macro scopic finding other than internal hemorrhoids and only 1 patient had no macroscopic findings. One patient had mucosa-associated lymphoid tissue lymphoma (MALToma) on gastric biopsy, while 1 patient had poorly differentiated adenocarcinoma on antrum biopsy.

CONCLUSION: In conclusion, chronic diarrhea is more common in PID than in the general population, and switched memory B cells arenlower in PID patients with chronic diarrhea. Most importantly, a collaboration between immunologists, gastroenterologists, and patholo gists is required when evaluating the gastrointestinal tract in PID. Cite this article as: Erkoç M, Erhan Ç, Çevirme L, et al. Gastrointestinal tract findings in patients with primary immunodeficiency: A single-center 6-year experience. Turk J Gastroenterol. 2026;37(1):55-61.

PMID:41578787 | DOI:10.5152/tjg.2025.25100

Medicine (Baltimore). 2026 Jan 23;105(4):e44410. doi: 10.1097/MD.0000000000044410.

ABSTRACT

RATIONALE: Hereditary angioedema (HAE) is a rare genetic disorder caused by C1 esterase inhibitor (C1-INH) deficiency or dysfunction. Presentation with isolated abdominal pain is uncommon, often leading to diagnostic delays and inadequate pain management. Effective pain control is essential to improve patient comfort and prevent complications.

PATIENT CONCERNS: A 21-year-old male with type II HAE presented exclusively with recurrent severe abdominal pain and experienced a transient loss of consciousness attributed to a pain-induced vagal reflex.

DIAGNOSES: Diagnosis of type II HAE was confirmed based on clinical presentation, laboratory findings of C1-INH dysfunction, and exclusion of other causes of abdominal pain.

INTERVENTIONS: The patient received multidisciplinary care including symptom-based nursing, targeted pharmacological therapy with lanadelumab, psychological support, and nutritional management.

OUTCOMES: Following lanadelumab administration, the patient’s abdominal pain improved significantly within 2 hours and completely resolved within 8 hours. Symptom relief was sustained at 3-month follow-up with no recurrence.

LESSONS: This case underscores the importance of early recognition of HAE presenting solely with abdominal pain and demonstrates that multidisciplinary, targeted pain management can lead to rapid and sustained symptom relief. Awareness of such atypical presentations is critical for optimizing outcomes in HAE patients.

PMID:41578566 | DOI:10.1097/MD.0000000000044410

Medicine (Baltimore). 2026 Jan 23;105(4):e47367. doi: 10.1097/MD.0000000000047367.

ABSTRACT

Pediatric lymphoproliferative disorders (PLPDs) encompass a spectrum of conditions marked by the abnormal proliferation of lymphocytes, often linked to genetic mutations, immune dysregulation, and infectious agents like Epstein-Barr virus. These disorders present with varied clinical phenotypes, ranging from benign lymphadenopathy to severe, life-threatening malignancies. Recent advancements in molecular diagnostics and imaging have significantly enhanced the early identification and classification of PLPDs, paving the way for timely and effective interventions. Understanding the pathophysiological mechanisms underlying PLPDs has also been instrumental in guiding the development of novel therapeutic strategies. The management of PLPDs has evolved with the advent of targeted therapies, including monoclonal antibodies and small molecule inhibitors, which have demonstrated promising efficacy in mitigating disease progression. For severe or refractory cases, hematopoietic stem cell transplantation remains a curative option, especially for disorders associated with primary immunodeficiencies. Despite these advancements, challenges persist in ensuring equitable access to advanced diagnostics and therapies, particularly in resource-limited settings. Furthermore, optimizing treatment regimens to minimize long-term complications and improve quality of life remains a critical area of focus.

PMID:41578561 | DOI:10.1097/MD.0000000000047367

Rev Prat. 2025 Oct;75(8):885-890.

ABSTRACT

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS. Hemophagocytic lymphohistiocytosis (HLH) is an uncontrolled, life-threatening inflammation caused by immune dysregulation and excessive activation of macrophages and T lymphocytes. HLH is characterized by persistent fever, hepatosplenomegaly, hyperferritinemia, cytopenia, coagulopathy, and hemophagocytosis. A distinction is made between the primary (genetic/familial) form (HLHp), which is caused by mutations in genes involved in the T and NK cells cytotoxicity pathway, and the secondary (acquired) form (HLHs), which usually occurs in the setting of an immunodeficiency associated with a neoplastic, infectious or autoimmune pathology. Early diagnosis and prompt treatment of the triggering factor, combined with HLH control thanks to corticosteroid therapy and sometimes immunosuppressants (etoposide, biotherapies), are the basis of management.

PMID:41575097

Front Med (Lausanne). 2026 Jan 7;12:1724196. doi: 10.3389/fmed.2025.1724196. eCollection 2025.

ABSTRACT

BACKGROUND: Intravenous immunoglobulin (IVIg) is widely used to treat primary immunodeficiency, chronic inflammatory demyelinating polyneuropathy, immune thrombocytopenia, and other disorders. Although effective in maintaining IgG trough levels and reducing infections, its safety profile requires further characterization.

METHODS: A large-scale pharmacovigilance study was conducted using the U.S. FDA Adverse Event Reporting System (FAERS) from Q1 2004 to Q4 2024. Four disproportionality methods-reporting odds ratio (ROR), proportional reporting ratio (PRR), Bayesian confidence propagation neural network (BCPNN), and multi-item gamma Poisson shrinker (MGPS)-were applied to detect adverse event signals. Weibull modeling was used to assess temporal risk patterns.

RESULTS: A total of 76,138 IVIg-associated reports were identified. Common events included infusion-site reactions (swelling, erythema, pain), infections (upper respiratory tract infection, bronchitis, pneumonia, influenza, urinary tract infection), and systemic reactions (pyrexia, chills, hypersensitivity, headache, asthenia, nausea, vomiting). Several novel potential safety signals emerged, including blood pressure-related events (hypertension and hypotension), weight changes (loss and gain), and falls.

CONCLUSION: Real-world FAERS data confirm the established tolerability of IVIg while highlighting rare but clinically important safety signals, particularly hemolytic anemia and aseptic meningitis. These findings warrant further clinical investigation to optimize monitoring and promote safer therapeutic use.

PMID:41574383 | PMC:PMC12819674 | DOI:10.3389/fmed.2025.1724196

Front Immunol. 2026 Jan 7;16:1736589. doi: 10.3389/fimmu.2025.1736589. eCollection 2025.

ABSTRACT

INTRODUCTION: Stressful physical or psychological events can trigger acute swelling attacks in patients with Hereditary Angioedema due to C1 Inhibitor deficiency (HAE-C1INH), although the stress-disease relationship remains unclear. The Socially Evaluated Cold Pressor Test (SECPT) reliably induces acute stress under controlled conditions. This study aimed to compare perceived stress, inflammatory markers, and cardiovascular responses to SECPT between HAE-C1INH patients and healthy controls (HC).

METHODS: Twenty HAE-C1INH patients (9 males, 44 ± 14 years) and age and sex matched HC underwent a 3-minute SECPT. Participants completed questionnaires assessing anxiety and depression (HADS), pain catastrophizing (PCS), and subjective stress (0-100 scale) before and after SECPT. Heart rate (HR) and arterial pressure (AP) were recorded. Blood samples for inflammatory cytokines (IL-6, IL-1ß, TNF-α) were collected at baseline, and 10 and 40 minutes after SECPT.

RESULTS: Compared to HC, patients showed higher baseline HADS-A (7.3 ± 4.5 vs 4.7 ± 2.7), overall PCS (19.7 ± 12.6 vs 12.9 ± 8.7), and perceived stress during SECPT (60.6 ± 34.3 vs 34.6 ± 23.8). IL-6 levels were higher at baseline and 10 minutes post-test (2.63 ± 1.21 vs 1.84 ± 0.87; 2.78 ± 1.20 vs 1.91 ± 0.79 pg/ml), as were TNF-α levels across all phases (4.19 ± 1.38 vs 3.26 ± 1.55; 4.09 ± 1.39 vs 3.40 ± 1.48; 4.09 ± 1.28 vs 3.20 ± 1.57) while IL-1 ß remained unchanged. HR and AP variations were similar between groups.

DISCUSSION: HAE-C1INH patients exhibited heightened perceived stress response to SECPT, and elevated baseline inflammation, despite comparable cardiovascular reactivity. These findings highlight a complex psychophysiological-inflammatory interplay in acute stress responses, suggesting the need to integrate psychological and biological frameworks in understanding HAE-C1INH triggers.

CLINICAL TRIALS CODE: NCT06414252.

PMID:41573571 | PMC:PMC12819172 | DOI:10.3389/fimmu.2025.1736589

J Genet. 2025;104:29.

ABSTRACT

Schimke immunoosseous dysplasia (SIOD) is an uncommon inherited genetic disorder resulting from pathogenic variants in the SMARCAL1 gene. This complex condition exhibits a wide range of clinical features, including skeletal abnormalities, steroid-resistant nephrotic syndrome, and immune system deficiencies. In this study, we report a case series of three patients diagnosed with SIOD, each harbouring copy number variants in the SMARCAL1 gene. The cases expand the current understanding of the genetic diversity underlying SIOD and highlight the significance of copy number variations as a pathogenic mechanism. Our findings contribute to broadening the genotypic spectrum associated with SIOD and underscore the importance of comprehensive genetic analysis for accurate diagnosis and management of this rare disorder.

PMID:41568729

Kidney Int Rep. 2025 Dec 16;11(3):103729. doi: 10.1016/j.ekir.2025.103729. eCollection 2026 Mar.

ABSTRACT

IgA vasculitis (IgAV) is an autoimmune disease that affects the small vessels of the skin, joints, gastrointestinal (GI) tract, and kidneys. In the long term, IgAV associated with nephritis (IgAV-N) can progress to kidney failure. Evidence-based clinical studies of IgAV-N are few, leading to huge variations in treatment approaches and suboptimal outcomes. The wealth of emerging efficacious treatments for IgA nephrology brings new opportunities to this disease. The aim of this report is to describe the proceedings of a multiprofessional collaborative workshop convened to identify the barriers to developing high quality evidence for patients with IgAV-N. A multiprofessional group consisting of 53 attendees from 13 countries met. The meeting was represented by a variety of professional backgrounds, including lay attendees, with different levels of expertise (32% professors and 19% midcareer doctors). Using predefined aims, key themes were extracted, and an action plan developed. Consensus was obtained that there is sufficient similarity between adults and children in terms of the organs involved, pathophysiology, histological features, and likely response to treatment. Important differences included the greater spontaneous improvement in children and worse kidney outcomes in some populations. It was agreed that patients at greatest risk of kidney failure should be the primary focus of initial clinical trials. Important considerations included the following: diagnostic classification for adult onset IgAV, observational data, evidence of scientific similarity to IgA nephropathy (IgAN), an age-inclusive approach to trial design, systemic disease secondary end points, and the inclusion of patient-reported outcomes. This manuscript communicates an expert-informed pathway to high-quality evidence for IgAV-N.

PMID:41568275 | PMC:PMC12816797 | DOI:10.1016/j.ekir.2025.103729

Medicine (Baltimore). 2026 Jan 16;105(3):e47283. doi: 10.1097/MD.0000000000047283.

ABSTRACT

RATIONALE: Type II hereditary angioedema (HAE) is a rare and underrecognized condition. Early diagnosis and family screening are essential to prevent life-threatening attacks.

PATIENT CONCERNS: A 36-year-old woman presented with recurrent facial swelling and dysphagia unresponsive to standard treatments.

DIAGNOSES: Laboratory analysis revealed decreased C4 and low functional C1 inhibitor (C1-INH) activity with normal antigenic levels, confirming type II HAE. Whole-exome sequencing identified a heterozygous SERPING1 mutation, c.1397G > A (p.Arg466His), classified as pathogenic (ClinVar Accession: VCV000003946.13). Three daughters carried the same variant.

INTERVENTIONS: The patient received subcutaneous icatibant for acute management and prophylactic lanadelumab. Her daughters were counseled and provided with emergency medication.

OUTCOMES: Over 7 months of follow-up, the patient remained attack-free without adverse effects. Her daughters were asymptomatic or mildly affected.

LESSONS: This case emphasizes the need to consider HAE in unexplained recurrent angioedema and demonstrates the clinical utility of genetic testing and family screening. Lanadelumab was effective and well-tolerated for prophylaxis, consistent with current guideline recommendations.

PMID:41560114 | DOI:10.1097/MD.0000000000047283

IDCases. 2025 Dec 17;43:e02462. doi: 10.1016/j.idcr.2025.e02462. eCollection 2026.

ABSTRACT

INTRODUCTION: Lophomonas infection is a rare respiratory illness caused by parasites, mostly reported in immunocompromised patients. X-linked agammaglobulinemia (XLA), or Bruton’s disease, is a primary immunodeficiency caused by a defective Bruton’s tyrosine kinase (BTK) gene. This defect results in a deficiency or absence of functional BTK protein, leading to significantly reduced or absent B lymphocytes and serum immunoglobulin levels.

CASE PRESENTATION: A 21-year-old male patient was admitted to our service exhibiting a six-week history of fever, dyspnea, and productive cough. The patient’s condition deteriorated despite prior outpatient management. Following abnormal laboratory values and computed tomography, bronchoscopy was performed. Microscopic evaluation of the bronchoalveolar lavage fluid revealed the presence of viable, oval-shaped, flagellated Lophomonas protozoa.

CONCLUSION: In evaluating immunocompromised patients with sustained respiratory symptoms, clinicians should consider opportunistic infections, such as pulmonary lophomoniasis, in their differential diagnosis. Delayed intervention in this patient population may lead to irreversible adverse sequelae.

PMID:41551350 | PMC:PMC12811521 | DOI:10.1016/j.idcr.2025.e02462