J Clin Immunol. 2025 Sep 30;45(1):136. doi: 10.1007/s10875-025-01935-6. ABSTRACT Inborn errors of immunity (IEI) are a heterogeneous group of genetic disorders that disrupt the normal development and function of the immune system. These diseases not only increase susceptibility to infections but also significantly elevate the risk of developing malignancies and autoimmune diseases. The interplay between … Read more

J Clin Immunol. 2025 Sep 30;45(1):134. doi: 10.1007/s10875-025-01922-x. ABSTRACT NLRP3 mosaicism is a well-established mechanism causing the monogenic autoinflammatory disease named cryopyrin-associated periodic syndromes (CAPS). The number of reported patients with NLRP3 mosaicism is small, and the knowledge about the long-term disease behavior is limited. Herein we assembled the largest cohort of individuals with NLRP3 … Read more

J Clin Immunol. 2025 Sep 30;45(1):133. doi: 10.1007/s10875-025-01930-x. ABSTRACT Mendelian susceptibility to mycobacterial disease (MSMD) is a rare clinical syndrome that is characterized by selective vulnerability to intracellular pathogens. Deficiency in IL12RB1 is the most common type of MSMD but the heterogeneity of its clinical Manifestation Makes precise diagnosis difficult. Here, we report a previously … Read more

J Clin Immunol. 2025 Sep 30;45(1):130. doi: 10.1007/s10875-025-01931-w. ABSTRACT BACKGROUND: Caspase-8 enzyme deficiency (CED) is a rare autosomal recessive inborn error of immunity with autoimmune lymphoproliferative syndromes (ALPS), deficient extrinsic apoptosis and hyperactivation of the mammalian target of rapamycin (mTOR) pathway. METHODS: Features of our patient with early onset chronic inflammatory demyelinating polyneuropathy (CIDP) are … Read more

J Clin Immunol. 2025 Sep 30;45(1):135. doi: 10.1007/s10875-025-01939-2. ABSTRACT OBJECTIVE: Mutations in the HOIP gene, encoding Heme-oxidized IRP2 ubiquitin ligase-1 (HOIL-1) interacting protein, a key component of the linear ubiquitination chain assembly complex (LUBAC), affect the activation of the NF-κB pathway and result in autoinflammation and immunodeficiency. To date, only three patients with HOIP mutations … Read more

J Clin Immunol. 2025 Sep 25;45(1):128. doi: 10.1007/s10875-025-01910-1. ABSTRACT PURPOSE: Inborn Errors of Immunity (IEI) often lead to recurrent infections, immune dysregulation, and an increased risk of malignancies. Due to the heterogeneity in IEI presentations, personalized monitoring is essential for early detection of non-infectious complications. This study aims to document the characteristics and prevalence of … Read more

J Clin Immunol. 2025 Aug 26;45(1):127. doi: 10.1007/s10875-025-01897-9. ABSTRACT Common Variable Immunodeficiency (CVID) is a heterogeneous disorder characterized by impaired antibody production and recurrent infections. In this study we investigated the clinical and immunological features of CVID in Indian patients and develops a machine learning model for predicting disease severity. We retrospectively analyzed 150 patients … Read more

J Clin Immunol. 2025 Aug 25;45(1):125. doi: 10.1007/s10875-025-01904-z. ABSTRACT PURPOSE: Patients with (X-linked) agammaglobulinemia (XLA) suffer from severe, recurrent infections potentially leading to life-threatening complications such as sepsis, meningoencephalitis and chronic lung disease. Early diagnosis and timely treatment can prevent infections and secondary complications, emphasizing a role for early detection of XLA via newborn screening … Read more

J Clin Immunol. 2025 Aug 25;45(1):126. doi: 10.1007/s10875-025-01924-9. NO ABSTRACT PMID:40853399 | DOI:10.1007/s10875-025-01924-9

J Clin Immunol. 2025 Aug 23;45(1):124. doi: 10.1007/s10875-025-01912-z. ABSTRACT Hereditary angioedema with normal C1 inhibitor (HAE-nC1-INH) is a rare and genetically heterogeneous disorder with an incomplete molecular understanding. This study aimed to identify novel genetic variants associated with HAE-nC1-INH, characterize their clinical manifestations, and evaluate real-world treatment responses. Whole-exome sequencing of 27 HAE patients, including … Read more