J Clin Immunol. 2025 Dec 12. doi: 10.1007/s10875-025-01970-3. Online ahead of print. ABSTRACT INTRODUCTION: Primary ‘predominantly antibody deficiencies’ (PADs) are rare disorders characterized by increased susceptibility to infections, autoimmunity, allergies, and malignancies. Their low prevalence and heterogeneity often delay diagnosis, increasing morbidity and mortality. This study identifies infection patterns in PAD patients and analyzes predictors … Read more
J Clin Immunol. 2025 Dec 10. doi: 10.1007/s10875-025-01969-w. Online ahead of print. ABSTRACT PURPOSE: Long COVID (LC) is a long-term debilitating disease of which the exact pathophysiology is unknown. A dysregulated immune response resulting in hyperresponsive immune cells is hypothesized as a key mechanism in the development of LC. Several studies suggest that acute infections … Read more
J Clin Immunol. 2025 Nov 28. doi: 10.1007/s10875-025-01966-z. Online ahead of print. ABSTRACT PURPOSE: Despite well-conducted replacement therapy with polyvalent immunoglobulins (IgRT), some patients with primary immunodeficiencies (PID) continue to experience recurrent or chronic infections. IgA and IgM, essential for mucosal and complement-mediated immunity, are absent or minimal in standard immunoglobulin products. The aim of … Read more
J Clin Immunol. 2025 Nov 28. doi: 10.1007/s10875-025-01965-0. Online ahead of print. ABSTRACT Exosomes, as integral mediators of cellular communication, have emerged as crucial players in the pathogenesis and potential treatment of autoimmune diseases. This review explores the dual role of exosomes in mediating autoantigen presentation and their impact on immune dysregulation. Exosomes, by virtue … Read more
J Clin Immunol. 2025 Nov 27. doi: 10.1007/s10875-025-01919-6. Online ahead of print. ABSTRACT Autosomal recessive mutations in TAP1, TAP2, TAPBP, or B2M, are associated with major histocompatibility complex (MHC) class I deficiency. Individuals may present with granulomatous skin ulceration, but the underlying antigenic triggers remain largely unknown. We identified TAP1 deficiency in a 32-year-old female … Read more
J Clin Immunol. 2025 Nov 25;45(1):168. doi: 10.1007/s10875-025-01963-2. ABSTRACT BACKGROUND: Common Variable Immunodeficiency (CVID) is a group of heterogeneous disorders with common denominators of impaired antibody production and function, and recurrent infections. Currently, prognostic biomarkers for CVID are limited. CXCL13 is a critical regulator of germinal centre responses and antibody production, with T follicular helper … Read more
J Clin Immunol. 2025 Nov 25;45(1):167. doi: 10.1007/s10875-025-01957-0. ABSTRACT Down syndrome (DS) and STAT1 gain-of-function (GOF) share clinical and molecular features, including persistent inflammation. We aimed to investigate whether the coexistence of DS and a STAT1 GOF mutation in a patient synergistically enhances interferon (IFN) signaling and exacerbates inflammatory responses, posing additional management challenges. Two … Read more
J Clin Immunol. 2025 Nov 25;45(1):166. doi: 10.1007/s10875-025-01945-4. ABSTRACT BACKGROUND: Newborn screening (NBS) by quantification of T-cell receptor excision circles (TREC) identifies a considerable number of infants with T-cell lymphopenia (TCL) other than severe combined immunodeficiency (SCID). While some of these children have well-defined inborn errors of immunity (IEI), many lack a clear genetic diagnosis, … Read more
J Clin Immunol. 2025 Nov 26. doi: 10.1007/s10875-025-01961-4. Online ahead of print. ABSTRACT BACKGROUND AND OBJECTIVES: Ankylosing spondylitis (AS) is a chronic immune-mediated inflammatory disease primarily affecting the axial skeleton. Despite significant advances, its pathogenic mechanisms remain unclear, posing challenges to early diagnosis and effective treatment. This study aims to elucidate the pathogenic pathways of … Read more
J Clin Immunol. 2025 Nov 23. doi: 10.1007/s10875-025-01947-2. Online ahead of print. ABSTRACT INTRODUCTION: Inborn errors of immunity (IEIs) constitute a diverse group of more than 500 disorders resulting from pathogenic variants in over 500 causative genes, with most being monogenic diseases. The use of exome sequencing based on next-generation sequencing technologies has significantly advanced … Read more
J Clin Immunol. 2025 Nov 18;45(1):163. doi: 10.1007/s10875-025-01964-1. ABSTRACT PURPOSE: This study aimed to investigate the spectrum of bacterial infections in children with inborn error of immunity (IEIs). METHODS: Pediatric patients with IEIs and positive for bacteria considered to be pathogenic were included in this retrospective study. RESULTS: In this study, 1811 medical records of … Read more
J Clin Immunol. 2025 Nov 18;45(1):162. doi: 10.1007/s10875-025-01959-y. ABSTRACT Flow cytometric immunophenotyping of lymphocytes and dendritic cells, and functional lymphocyte mitogen response tests are used in the diagnostics of inborn errors of immunity (IEI), especially in pediatrics. These routinely used tests lack sufficient age-matched reference values in children. We established reference values for lymphocyte and … Read more
J Clin Immunol. 2025 Nov 18;45(1):165. doi: 10.1007/s10875-025-01958-z. ABSTRACT Suppressor of cytokine signaling 1 (SOCS1) haploinsufficiency is a recently described inborn error of immunity characterized by autoimmunity, inflammation, lymphoproliferation, and increased infection susceptibility. SOCS1, a negative regulator of cytokine signaling via the JAK/STAT pathway, explains the condition’s broad phenotypic variability. Single nucleotide polymorphisms in SOCS1 … Read more
J Clin Immunol. 2025 Nov 15;45(1):160. doi: 10.1007/s10875-025-01953-4. ABSTRACT BACKGROUND: Treating neutrophilic inflammation in chronic rhinosinusitis with nasal polyps (CRSwNP) remains a challenge. Managing excessive infiltration and activation of neutrophils in tissues is important for improving CRSwNP outcomes. S100A4, a calcium-binding protein, regulates cell migration, chemotaxis and tissue fibrosis. In this study, we sought to … Read more
J Clin Immunol. 2025 Nov 15;45(1):161. doi: 10.1007/s10875-025-01962-3. ABSTRACT X-linked agammaglobulinemia (XLA) is caused by loss-of-function variants in Bruton’s tyrosine kinase, leading to absence of circulating B lymphocytes and inability to produce antibodies. Despite the fear that patients with XLA would be at high risk for severe infection when the novel virus SARS-CoV-2 emerged in … Read more
J Clin Immunol. 2025 Nov 12;45(1):159. doi: 10.1007/s10875-025-01960-5. ABSTRACT Haploinsufficiency of cytotoxic T-lymphocyte associated protein 4 (CTLA4), a known cause of inborn errors of immunity, can lead to autoimmunity, inflammation, neoplasia and infections. A previously undescribed CTLA4 variant was identified in a patient who presented with life-threatening cutaneous infection caused by Pseudomonas aeruginosa, severe VZV … Read more
J Clin Immunol. 2025 Nov 12;45(1):158. doi: 10.1007/s10875-025-01952-5. ABSTRACT Intravenous immunoglobulin (IVIG) therapy is a well-documented and effective treatment for primary immunodeficiencies (PI). Subcutaneous immunoglobulins (SCIG) have emerged as an effective alternative for some patients that offers additional flexibility.Currently, caprylate/chromatography purified IGSC (human) 20% is approved to treat PI in North America and many countries … Read more
J Clin Immunol. 2025 Nov 10;45(1):157. doi: 10.1007/s10875-025-01946-3. ABSTRACT BACKGROUND: IgA vasculitis (IgAV) is an autoimmune disorder characterized by inflammation of the small blood vessels. The pathogenesis of IgAV is believed to involve a complex interplay between immune cells, metabolites, and inflammatory cytokines (ICs). METHODS: We performed two-sample Mendelian randomization (MR) analysis to examine the … Read more
J Clin Immunol. 2025 Nov 10;45(1):156. doi: 10.1007/s10875-025-01956-1. ABSTRACT Combined immunodeficiency due to CARMIL2 mutations is a rare autosomal recessive primary immunodeficiency characterized by impaired T-cell activation and function, leading to diverse clinical manifestations. Fewer than 50 cases have been reported worldwide. We describe the clinical and genetic features of five patients from Palestine with … Read more
J Clin Immunol. 2025 Nov 7;45(1):153. doi: 10.1007/s10875-025-01940-9. ABSTRACT Fungal infections contribute to a significant disease burden in patients with chronic granulomatous disease (CGD). While the presentation may differ depending on genotype and environmental exposure to fungus, associated mortality rates are universally high. This is a retrospective study wherein medical records of patients diagnosed with … Read more
J Clin Immunol. 2025 Nov 8;45(1):154. doi: 10.1007/s10875-025-01927-6. ABSTRACT PURPOSE: Patients with X-linked agammaglobulinemia (XLA) suffer from severe, recurrent infections potentially leading to life-threatening complications. Early diagnosis and timely treatment can prevent infections and secondary complications, emphasizing a role for newborn screening (NBS). NBS for XLA is based on quantification of kappa-deleting recombination excision circles … Read more
J Clin Immunol. 2025 Nov 6;45(1):152. doi: 10.1007/s10875-025-01903-0. ABSTRACT BACKGROUND: Non-Aspergillus invasive fungal infections (NAFI) are increasingly reported in patients with Chronic Granulomatous Disease (CGD), but precise clinical descriptions remain scarce. OBJECTIVE AND METHODS: We conducted a retrospective analysis of NAFI cases among CGD patients in the French National Registry of Primary Immunodeficiencies (CEREDIH) and … Read more
J Clin Immunol. 2025 Nov 5;45(1):150. doi: 10.1007/s10875-025-01951-6. ABSTRACT PURPOSE: Bone marrow failure (BMF) in idiopathic aplastic anemia (AA) and hypoplastic myelodysplastic neoplasms (MDS-h) results from the destruction of hematopoietic progenitors by autoreactive T cells; however, the molecular events driving the pathogenesis of these disorders remain unclear. We therefore applied whole-exome sequencing (WES) in AA … Read more
J Clin Immunol. 2025 Oct 21;45(1):148. doi: 10.1007/s10875-025-01934-7. ABSTRACT BACKGROUND: Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked(IPEX) syndrome caused by FOXP3 mutations is rare. FOXP3 is a transcription factor required for the regulatory T cell (Treg) development/function. AIM: We aimed to characterize the clinical, immunologic, and genetic features of a single-center cohort of IPEX syndrome. PATIENTS … Read more
J Clin Immunol. 2025 Oct 21;45(1):149. doi: 10.1007/s10875-025-01943-6. ABSTRACT The cellular basis of COVID-19 severity in patients with deficiencies in type I IFN immunity remains unclear. In this study, we differentiated cardiomyocytes and macrophages from IFNAR1 competent (IFNAR1comp) and deficient (IFNAR1def) induced pluripotent stem cells (iPSCs), and analyzed virus replication and cytokine production after exposure … Read more
J Clin Immunol. 2025 Oct 20;45(1):147. doi: 10.1007/s10875-025-01950-7. ABSTRACT BACKGROUND: Inborn errors of immunity (IEI) affecting B-cell receptor signaling cause predominantly antibody deficiency (PAD) with varying degrees of severity. Recently, four heterozygous variants in SYK were reported to cause hypogammaglobulinemia, multiorgan inflammatory disease and diffuse large B-cell lymphoma. OBJECTIVE: We aimed to unravel the genetic … Read more
J Clin Immunol. 2025 Oct 16;45(1):143. doi: 10.1007/s10875-025-01949-0. ABSTRACT Hypogammaglobulinemia (HG) predisposes patients to gastrointestinal Campylobacter infections. This prospective study determined the prevalence of Campylobacter in stool samples from patients with immunoglobulin (Ig)-substituted HG at Bordeaux University Hospital. 73 patients (42 women, median age: 61) receiving Ig substitution therapy were enrolled from July 2022 to … Read more
J Clin Immunol. 2025 Oct 16;45(1):144. doi: 10.1007/s10875-025-01936-5. ABSTRACT BACKGROUND: Primary immunodeficiency disease (PID)/Inborn Errors of Immunity (IEI) with T-cell dysfunction is well-known for susceptibility to opportunistic/viral infections. Epstein-Barr virus-positive smooth muscle tumor (EBV-SMT) is a rare entity primarily seen in the setting of immunodeficiency, such as transplantation, HIV/AIDS, and IEI. AIM: This study aimed … Read more
J Clin Immunol. 2025 Oct 1;45(1):141. doi: 10.1007/s10875-025-01929-4. ABSTRACT INTRODUCTION: Specific determinants of target-organ damage in autoimmune diseases are complex and multifactorial, several genetic and environmental factors are recognized but mostly remain unknown. Immunotherapy with “check-point inhibitors” (CPI) is complicated by immune related adverse events (IRAE), occurring in a large fraction of patients, with organ-specific … Read more
J Clin Immunol. 2025 Sep 30;45(1):137. doi: 10.1007/s10875-025-01937-4. ABSTRACT OBJECTIVE: Germline heterozygous gain-of-function (GOF) mutations in STAT1 impair IL-17-mediated immunity, resulting in carriers’ susceptibility to chronic mucocutaneous candidiasis (CMC). JAK inhibitors have shown therapeutic effectiveness in patients with STAT1-GOF mutations. METHODS: The mutation was detected using whole-exome sequencing (WES) and confirmed by Sanger sequencing. The … Read more
J Clin Immunol. 2025 Sep 30;45(1):131. doi: 10.1007/s10875-025-01926-7. ABSTRACT BACKGROUND: The CYBB gene encodes the gp91-phox protein, a critical component of the NADPH oxidase complex involved in pathogen clearance. Mutations in CYBB are associated with chronic granulomatous disease (CGD), leading to recurrent bacterial infections. OBJECTIVE: To understand the genetic causes of Chinese CGD patients. METHODS: … Read more
J Clin Immunol. 2025 Sep 30;45(1):138. doi: 10.1007/s10875-025-01932-9. ABSTRACT VEXAS syndrome is an adult-onset autoinflammatory disorder caused by somatic UBA1 variants, but there are no standardized criteria for genetic testing or diagnostics. This study compared Sanger sequencing and next-generation sequencing (NGS) for detecting UBA1 variants in patients with suspected VEXAS, assessed the ability of Sanger … Read more
J Clin Immunol. 2025 Sep 30;45(1):129. doi: 10.1007/s10875-025-01920-z. ABSTRACT PURPOSE: Enteropathy is a non-infectious complication in Common Variable Immune Deficiency (CVID) associated with increased morbidity and mortality. We characterized this group of CVID enteropathy (CVID-E) patients and investigated the effectiveness of immunosuppressive treatments on its clinical course. METHOD: We identified patients with CVID-E in two … Read more
J Clin Immunol. 2025 Sep 30;45(1):139. doi: 10.1007/s10875-025-01938-3. ABSTRACT Phosphatidylinositol 3-kinases (PI3Ks) are heterodimeric lipid kinases that are involved in a diverse array of cellular functions such as growth, metabolism, and migration. Mutations in PIK3CD, which encodes an immune-specific catalytic subunit of PI3K, cause both dominant (activating) and recessive (loss of function) immune deficiencies in … Read more
J Clin Immunol. 2025 Sep 30;45(1):140. doi: 10.1007/s10875-025-01933-8. ABSTRACT PURPOSE: Type I interferonopathy encompasses disorders marked by systemic inflammation and neurological involvement, arising from genetic mutations that result in the upregulation of type I IFN signaling through various mechanisms. Currently, therapeutic options are limited, and no standard therapy exists. This study aims to develop a … Read more
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 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
J Clin Immunol. 2025 Aug 11;45(1):122. doi: 10.1007/s10875-025-01899-7. ABSTRACT PURPOSE: The Ezrin-Radixin-Moesin (ERM) family member moesin (MSN) plays a crucial role in reversibly linking F-actin to the cell membrane. Patients carrying MSN gene mutations consistently exhibit immunodeficiencies. However, due to the scarce number of reported cases worldwide, the mechanism by which MSN mutation leads to … Read more
J Clin Immunol. 2025 Aug 2;45(1):121. doi: 10.1007/s10875-025-01917-8. ABSTRACT The interleukin-2 receptor γ (IL-2Rγ, or γc) is a crucial component of several cytokine receptor complexes. Deficiencies in γc lead to X-linked severe combined immunodeficiency (X-SCID), characterized by recurrent infections due to the absence or dysfunction of T and NK cells, and nonfunctional B cells. Missense … Read more
J Clin Immunol. 2025 Aug 1;45(1):119. doi: 10.1007/s10875-025-01921-y. ABSTRACT BACKGROUND AND OBJECTIVES: Germline pathogenic variants in the mucosa-associated lymphoid tissue lymphoma translocation gene 1 (MALT1) encodes a caspase-like protease that plays a crucial role in the caspase recruitment domain (CARD)-B-cell lymphoma 10 (BCL10)-MALT1 (CBM) complex. This complex mediates the activation of nuclear factor-kB (NF-kB) pathway … Read more
J Clin Immunol. 2025 Aug 1;45(1):120. doi: 10.1007/s10875-025-01906-x. ABSTRACT PURPOSE: Baraitser-Winter syndrome type 1 (BRWS1) is a rare disorder characterized by intellectual disability, short stature, facial dysmorphism, cortical malformations, macrothrombocytopenia, and recurrent infections. BRWS1 is caused by loss-of-function variants in ACTB, leading to β-actin deficiency. Given the essential role of the actin cytoskeleton in T-cell … Read more
J Clin Immunol. 2025 Jul 29;45(1):118. doi: 10.1007/s10875-025-01913-y. ABSTRACT Natural Killer (NK) cells naturally recognize and eliminate leukemic cells. However, the molecular interactions that govern these responses are diverse due to the large number of activating and inhibitory NK receptors that modulate NK functions and the diversity of corresponding ligands that are differentially expressed in … Read more
J Clin Immunol. 2025 Jul 25;45(1):115. doi: 10.1007/s10875-025-01915-w. ABSTRACT BACKGROUND: The assessment of polysaccharide responsiveness via vaccination is pivotal in the evaluation of patients for primary immunodeficiency. However, the applicability of current guidelines provided by the American Academy of Allergy, Asthma & Immunology (AAAAI) has been subject to scrutiny. METHODS: We conducted a prospective study … Read more
J Clin Immunol. 2025 Jul 25;45(1):116. doi: 10.1007/s10875-025-01908-9. ABSTRACT BACKGROUND: The CD247 chain of the T-cell receptor (TCR) is essential for normal T cell development and function. Reported CD247-deficient patients showed severe immunodeficiency despite the presence of two populations of peripheral T cells, most with low TCR levels carrying the germline variant and a few … Read more
J Clin Immunol. 2025 Jul 24;45(1):114. doi: 10.1007/s10875-025-01914-x. ABSTRACT PURPOSE: Eosinophilic Granulomatosis with Polyangiitis (EGPA) is a rare vasculitis characterized by increased eosinophils in human tissues and peripheral blood. In this case, we present a 53-year-old female patient with EGPA. By this case and literature review, we want to explain the early manifestations, diagnosis, and … Read more
J Clin Immunol. 2025 Jul 12;45(1):113. doi: 10.1007/s10875-025-01905-y. ABSTRACT Congenital neutropenia (CN) is a rare hereditary blood disorder characterized by a significant reduction in neutrophils, making patients prone to recurrent and severe infections and even a risk of developing myelodysplastic syndrome or acute leukemia, often caused by the ELANE variants, and the complex relationship between … Read more
J Clin Immunol. 2025 Jul 10;45(1):112. doi: 10.1007/s10875-025-01911-0. ABSTRACT Streptococcus pneumoniae can be responsible for severe infections, especially in patients with primary antibody deficiencies like selective anti-polysaccharide antibodies deficiency (SPAD). The reference method recommaned by the World Health Organization for assessment of anti-pneumococcal capsular polysaccharides (PCPs) IgG antibodies is a standardized serotype-specific ELISA (WHO-SSA), but … Read more
J Clin Immunol. 2025 Jun 19;45(1):108. doi: 10.1007/s10875-025-01895-x. ABSTRACT Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) is the commonest cause of familial hemophagocytic lymphohistiocytosis (FHLH). In this retrospective study, we analyzed 8 patients with a genetic diagnosis of FHL2 and then examined their clinicopathological and perforin flow cytometry results (< 10% expression). The atypical clinical features … Read more
J Clin Immunol. 2025 Jun 19;45(1):109. doi: 10.1007/s10875-025-01901-2. ABSTRACT PURPOSE: The increasing application of virus-specific T cell therapy for treating BK virus infections in immunocompromised patients highlights the necessity for rapid identification of compatible cell donors with optimal BK-specific T cell response. This study aims to characterize the BK virus-specific T cell response in relation … Read more
J Clin Immunol. 2025 Jun 16;45(1):106. doi: 10.1007/s10875-025-01888-w. ABSTRACT PURPOSE: Adenosine deaminase 2 Deficiency (DADA2) is an autoinflammatory disease characterized by systemic vasculopathy, strokes and mild immunodeficiency. Recently NETosis has been implicated in the pathogenesis of Deficiency of Adenosine Deaminase 2. To deep investigate the possible effects of NETs on the immune system we characterized … Read more
J Clin Immunol. 2025 Jun 10;45(1):104. doi: 10.1007/s10875-025-01898-8. ABSTRACT Familial Mediterranean Fever (FMF) is caused by mutations in the MEFV gene, which encodes for pyrin. Although genetic testing is commonly employed for FMF diagnosis, the interpretation of genetic results is often challenging. Therefore, we aimed to functionally characterise the p.R202Q MEFV alteration. Furthermore, we hypothesized … Read more
J Clin Immunol. 2025 Jun 3;45(1):103. doi: 10.1007/s10875-025-01884-0. ABSTRACT BACKGROUND: DiGeorge Syndrome (DGS), a microdeletion syndrome, shows a broad spectrum from mild T-cell lymphopenia to severe combined immunodeficiency. AIM: To define the clinical/immunophenotypical biomarkers for DGS. PATIENTS AND METHODS: A total of 72 patients with 22q11.2 deletion(n = 66) and those fulfilling the DGS criteria … Read more
J Clin Immunol. 2025 May 27;45(1):100. doi: 10.1007/s10875-025-01892-0. ABSTRACT TLR7, which encodes a key receptor for single-stranded RNA (ssRNA) virus of the innate immune system, was recently associated with X-linked immunodeficiency and COVID-19 susceptibility. This study investigates the association between TLR7 variants and susceptibility to severe COVID-19 in a multicentric Spanish cohort. The TLR7 gene … Read more
J Clin Immunol. 2025 May 24;45(1):98. doi: 10.1007/s10875-025-01886-y. ABSTRACT A man living with HIV was found to lack expression of CD16A on his natural killer (NK) cells and monocytes. Genetic analysis revealed compound heterozygous deletion of FCGR3A, the gene encoding CD16A. The case’s NK cells showed: (a) no antibody-dependent cell-mediated cytotoxicity and very low spontaneous … Read more
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
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
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
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
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
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
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
J Clin Immunol. 2025 Apr 16;45(1):86. doi: 10.1007/s10875-025-01878-y. ABSTRACT Unexplained neurological symptoms can pose a diagnostic challenge in patients with inborn errors of immunity (IEI) where the aetiology can be varied, and diverse pathologies may require contrasting treatments. Brain biopsy, the process of sampling brain tissue directly, has historically provided histological and microbiological information and … Read more
J Clin Immunol. 2025 Mar 28;45(1):85. doi: 10.1007/s10875-025-01877-z. ABSTRACT The life-threatening coronavirus disease 2019 (COVID-19) affects about 1 in 1,000 healthy people under 50 without underlying conditions. Among patients with critical COVID-19 pneumonia, rare germline variants at genes controlling type I IFN immunity have been reported in up to 5% of patients. Causal etiologies in … Read more
J Clin Immunol. 2025 Mar 27;45(1):84. doi: 10.1007/s10875-025-01873-3. ABSTRACT PURPOSE: The safety and tolerability of elapegademase (elapegademase-lvlr; Revcovi®) a PEGylated recombinant adenosine deaminase (ADA), were demonstrated in two Phase 3 clinical trials in the U.S. and Japan in patients with ADA-deficient severe combined immunodeficiency (ADA-SCID). Elapegademase replaced Adagen® (pegademase, a PEGylated bovine ADA) in 2018. … Read more
J Clin Immunol. 2025 Mar 17;45(1):82. doi: 10.1007/s10875-025-01874-2. ABSTRACT Selective anti-polysaccharide antibody deficiency (SPAD) predisposes to encapsulated bacterial infections. The diagnosis is challenging, and literature reports are scarce in adult patients, we therefore aim to describe the demographics, infectious complications, therapeutic strategies, and outcome of adult patients. We conducted a multicenter observational study involving 55 … Read more
J Clin Immunol. 2025 Mar 17;45(1):83. doi: 10.1007/s10875-025-01876-0. ABSTRACT PURPOSE: Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease resulting from biallelic loss-of-function mutations in ADA2 gene. It has variable clinical manifestations, some of which can mimic Behçet’s disease (BD). Herein, we present a family of three siblings diagnosed with DADA2, two … Read more
J Clin Immunol. 2025 Mar 14;45(1):81. doi: 10.1007/s10875-025-01862-6. ABSTRACT PURPOSE: To investigate the efficacy, safety, tolerability, and serum IgG trough levels of hyaluronidase-facilitated subcutaneous immunoglobulin (fSCIG) 10% in US pediatric patients with primary immunodeficiency diseases (PIDDs). METHODS: This phase 3, open-label, prospective study (NCT03277313) was conducted at 17 US centers. Eligible patients aged 2 to … Read more
J Clin Immunol. 2025 Feb 25;45(1):78. doi: 10.1007/s10875-025-01872-4. ABSTRACT PURPOSE: B-cell expansion with nuclear factor kappa B and T-cell anergy (BENTA) is an inborn error of immunity characterized by congenital polyclonal B-cell lymphocyte expansion. In this report, we present a case of a girl diagnosed with BENTA carrying a novel CARD11 germline mutation, aiming to … Read more
J Clin Immunol. 2025 Feb 20;45(1):77. doi: 10.1007/s10875-025-01871-5. ABSTRACT PURPOSE: GATA2 deficiency, a rare inborn error of immunity, presents with highly variable phenotypes. Bone marrow (BM) changes such as hypocellularity and myelodysplastic syndrome (MDS) are common, with hematopoietic stem cell transplantation being the only curative option due to the risk of progression to acute myeloid … Read more
J Clin Immunol. 2025 Feb 20;45(1):76. doi: 10.1007/s10875-025-01866-2. ABSTRACT Deficiency in ELF4, X-linked (DEX) is a newly identified monogenic autoinflammatory disease. Most reported cases are male, leading to the recognition of DEX being primarily limited to male patients. Here we described 3 pediatric female patients with DEX from 3 unrelated families, who are all heterozygous … Read more
