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):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 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 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
J Clin Immunol. 2025 Feb 13;45(1):75. doi: 10.1007/s10875-025-01858-2. ABSTRACT Human inborn errors of immunity (IEI) represent a diverse group of genetic disorders affecting the innate and/or adaptive immune system. Some IEI entities comprise defects in DNA repair factors, resulting in (severe) combined immunodeficiencies, bone marrow failure, predisposition to malignancies, and potentially resulting in radiosensitivity (RS). … Read more
J Clin Immunol. 2025 Feb 11;45(1):74. doi: 10.1007/s10875-025-01863-5. ABSTRACT Reticular dysgenesis (RD) is a rare inborn error of immune cell formation defined by severe combined immunodeficiency, agranulocytosis and sensorineural deafness. We report a case of successful haploidentical maternal hematopoietic stem cell transplantation (HSCT) in a boy with RD detected by TREC newborn screening. The patient … Read more
J Clin Immunol. 2025 Feb 10;45(1):73. doi: 10.1007/s10875-025-01867-1. ABSTRACT Signal transducer and activator of transcription 3 (STAT3) plays a key role in leukocytic and non-leukocytic cells. Germ line mutations in STAT3, which are mainly found in the SH2, DNA binding and transactivation domains, can be loss- or gain-of-function (LOF and GOF). STAT3 N-terminal domain (NTD) … Read more
J Clin Immunol. 2025 Jan 24;45(1):67. doi: 10.1007/s10875-025-01857-3. ABSTRACT BACKGROUND: Ataxia telangiectasia mutated (ATM) kinase plays a critical role in DNA double-strand break (DSB) repair. Ataxia telangiectasia (A-T) patients exhibit abnormalities in immunoglobulin isotype expression and class switch recombination (CSR). This study investigates the role of residual ATM kinase expression and activity in the severity … Read more
J Clin Immunol. 2025 Jan 15;45(1):66. doi: 10.1007/s10875-024-01849-9. ABSTRACT Reduced function or hypomorphic variants in recombination-activating genes (RAG) 1 or 2 result in a broad clinical phenotype including common variable immunodeficiency (CVID) and even adult-onset disease. Milder RAG variants are less characterized. Here we describe the longitudinal course of a milder combined RAG deficiency in … Read more
J Clin Immunol. 2025 Jan 6;45(1):64. doi: 10.1007/s10875-024-01854-y. ABSTRACT Allogeneic haematopoietic stem cell transplantation (alloHSCT) is safe and effective for adolescents and adults with inborn errors of immunity (IEI) with severe disease manifestations of their disease. The haematopoietic cell transplantation comorbidity index (HCT-CI) score predicts transplant survival in non-malignant diseases, including IEIs. We hypothesised that … Read more
J Clin Immunol. 2025 Jan 6;45(1):65. doi: 10.1007/s10875-024-01850-2. ABSTRACT Receptor Interacting Serine/Threonine Kinase 1 (RIPK1) is widely expressed and integral to inflammatory and cell death responses. Autosomal recessive RIPK1-deficiency, due to biallelic loss of function mutations in RIPK1, is a rare inborn error of immunity (IEI) resulting in uncontrolled necroptosis, apoptosis and inflammation. Although hematopoietic … Read more
J Clin Immunol. 2025 Jan 3;45(1):63. doi: 10.1007/s10875-024-01856-w. ABSTRACT Major histocompatibility complex class I deficiency results from deleterious biallelic variants in TAP1, TAP2, TAPBP, and B2M genes. Only a few patients with variant-curated TAP1 deficiency (TAP1D) have been reported in the literature and the clinical phenotype has been variable with an emphasis on autoimmune and … Read more
J Clin Immunol. 2025 Jan 2;45(1):61. doi: 10.1007/s10875-024-01855-x. ABSTRACT PURPOSE: Patients with inborn errors of immunity (IEI) have lifelong health complications including severe infections and physical impairments. Previous studies show that a patient’s perception of their health is an important predictor of health outcomes. The purpose of this study was to understand factors related to … Read more
J Clin Immunol. 2024 Dec 27;45(1):59. doi: 10.1007/s10875-024-01853-z. ABSTRACT Inborn errors of immunity (IEI) are a heterogenous group of rare monogenic disorders that affect innate or adaptive immunity, resulting in susceptibility to life-threatening infections and autoimmunity. Allogeneic hematopoietic cell transplantation (HCT) is a valuable curative option for children with IEI. We conducted a retrospective single-center … Read more
J Clin Immunol. 2024 Dec 23;45(1):58. doi: 10.1007/s10875-024-01835-1. ABSTRACT BACKGROUND: Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an inborn error of immunity due to upregulation of the PI3K pathway, leads to recurrent infections and immune dysregulation (lymphoproliferation and autoimmunity). METHODS: Clinical and genetic data of 28 APDS patients from 25 unrelated families were collected from … Read more
J Clin Immunol. 2024 Dec 17;45(1):56. doi: 10.1007/s10875-024-01848-w. ABSTRACT PURPOSE: Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder characterized by distinctive features including microthrombocytopenia, eczema and recurrent infections. In the present study we report clinical, immunological and molecular spectrum of 41 WAS patients diagnosed over last five years. METHODS: Clinical and family history was collected … Read more
J Clin Immunol. 2024 Dec 17;45(1):57. doi: 10.1007/s10875-024-01838-y. ABSTRACT PURPOSE: Significant improvements in the prognosis for young patients with Primary Immunodeficiency Diseases (PID) and Autoinflammatory Disorders (AID), which together make up the majority of Inborn Errors of Immunity (IEI), have resulted in the need for optimisation of transition and transfer of care to adult services. … Read more
J Clin Immunol. 2024 Dec 14;45(1):55. doi: 10.1007/s10875-024-01847-x. ABSTRACT Anterior gradient 2 (AGR2) is a protein disulfide isomerase that is important for protein processing in the endoplasmic reticulum and is essential for mucin production in the digestive and respiratory tracts. Bi-allelic AGR2 variants were recently found to cause recurrent respiratory infections and failure to thrive … Read more
J Clin Immunol. 2024 Dec 13;45(1):54. doi: 10.1007/s10875-024-01846-y. ABSTRACT TREX1 mutations underlie a variety of human diseases, including retinal vasculopathy with cerebral leukoencephalopathy (RVCL or RVCL-S), a catastrophic adult-onset vasculopathy that is often confused with multiple sclerosis, systemic vasculitis, or systemic lupus erythematosus. Patients with RVCL develop brain, retinal, liver, and kidney disease around age … Read more
J Clin Immunol. 2024 Dec 4;45(1):53. doi: 10.1007/s10875-024-01836-0. ABSTRACT G6PC3 deficiency is a monogenic immunometabolic disorder that causes severe congenital neutropenia type 4. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis. Here, we investigated the origin and functional consequence of the G6PC3 c.210delC variant found in patients of Mexican descent. Based on the shared … Read more
J Clin Immunol. 2024 Dec 2;45(1):52. doi: 10.1007/s10875-024-01844-0. ABSTRACT Hereditary pulmonary alveolar proteinosis (hPAP) is a rare lung-related primary immunodeficiency. In hPAP, variants of genes encoding the heterodimeric GM-CSF receptor alpha or beta-chains (CSF2Rα, CSF2Rβ) lead to perturbations in GM-CSF signalling. These perturbations impair the scavenging function of pulmonary alveolar macrophages leading to accumulation of … Read more
J Clin Immunol. 2024 Nov 30;45(1):51. doi: 10.1007/s10875-024-01845-z. ABSTRACT BACKGROUND: Multisystem inflammatory syndrome in children (MIS-C) presents some clinical overlap with Kawasaki disease (KD). Although KD is common in Japan, the clinical characteristics of MIS-C in Japan remain unknown. Therefore, we aimed to determine the epidemiological and clinical features of MIS-C in Japan. METHODS: Using … Read more
J Clin Immunol. 2024 Nov 28;45(1):50. doi: 10.1007/s10875-024-01842-2. ABSTRACT Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility to haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. We completed a literature review and analysis of clinical data of 149 patients with GS2 including 8 new patients.We identified three … Read more
J Clin Immunol. 2024 Nov 25;45(1):49. doi: 10.1007/s10875-024-01840-4. ABSTRACT Multisystem inflammatory syndrome in children (MIS-C) has been reported in patients with inborn errors of immunity (IEI), providing insights into disease pathogenesis. Here, we present the first case of MIS-C in a child affected by Wiskott-Aldrich syndrome (WAS) gene mutation, elucidating underlying predisposing factors and the … Read more
J Clin Immunol. 2024 Nov 23;45(1):48. doi: 10.1007/s10875-024-01843-1. ABSTRACT We studied a family with three male individuals across two generations affected by common variable immune deficiency (CVID). We identified a novel missense heterozygous variant (c.2602T>A:p.Y868N) of NFKB2 in all patients and not in healthy relatives. Functional studies of the mutant allele in an overexpression system … Read more
J Clin Immunol. 2024 Nov 23;45(1):47. doi: 10.1007/s10875-024-01833-3. ABSTRACT TRAF3, a versatile adaptor protein within the TRAF family, participates in various signaling pathways involving the tumor necrosis factor receptor, toll-like receptor, and retinoic acid-inducible gene I-like receptor families. In 2010, autosomal dominant TRAF3 deficiency was reported in a patient with herpes simplex virus-1 encephalitis, consistent … Read more
J Clin Immunol. 2024 Nov 23;45(1):46. doi: 10.1007/s10875-024-01831-5. ABSTRACT PURPOSE: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune and lymphoproliferation-mediated features with incomplete penetrance. It has been identified in hundreds of patients but copy … Read more
J Clin Immunol. 2024 Nov 20;45(1):45. doi: 10.1007/s10875-024-01839-x. ABSTRACT PURPOSE: The pathogenesis of life-threatening coronavirus disease 2019 (COVID-19) pneumonia in ICU patients can involve pre-existing auto-antibodies (auto-Abs) neutralizing type I interferons (IFNs). The impact of these auto-Abs on SARS-CoV-2 clearance in the lower respiratory tract (LRT) is unclear. METHODS: We performed a retrospective study in … Read more
J Clin Immunol. 2024 Nov 15;45(1):42. doi: 10.1007/s10875-024-01837-z. ABSTRACT PURPOSE: Netherton syndrome (NS) is a rare inborn error of immunity (IEI) with an incidence of approximately 1:200,000 and the phenotypic triad of trichorrhexis invaginate (bamboo hair), congenital ichthyosiform erythroderma, and multiple atopic manifestations. Treatment options especially in infants are scarce and generally not licensed. METHODS: … Read more
J Clin Immunol. 2024 Nov 14;45(1):40. doi: 10.1007/s10875-024-01829-z. ABSTRACT BACKGROUND: X-linked agammaglobulinaemia (XLA), caused by mutations in BTK, is characterised by low or absent peripheral CD19 + B lymphocytes and agammaglobulinaemia. The mainstay of treatment consists of immunoglobulin replacement therapy (IgRT). As this cannot fully compensate for the immune defects in XLA, patients may therefore … Read more
J Clin Immunol. 2024 Nov 5;45(1):38. doi: 10.1007/s10875-024-01816-4. ABSTRACT Chronic neutropenia causes involve nutritional deficiencies and inborn errors of immunity(IEI), such as severe congenital neutropenia. To classify common chronic neutropenia causes in a pediatric immunology unit. We enrolled 109 chronic neutropenia patients admitted to a pediatric immunology department between 2002-2022. We recorded clinical/laboratory features and … Read more
J Clin Immunol. 2024 Nov 5;45(1):37. doi: 10.1007/s10875-024-01827-1. ABSTRACT Endophilin A2, the sole endophilin A family member expressed in hematopoietic cells, regulates various aspects of membrane dynamics, including autophagy and endocytosis. Recent studies in rodents highlight the essential role of endophilin A2 in modulating immune responses. Here we report a homozygous frameshift variant in the … Read more
J Clin Immunol. 2024 Oct 30;45(1):36. doi: 10.1007/s10875-024-01828-0. ABSTRACT BACKGROUND: Netherton syndrome (NS) is a rare, severe genetic skin disorder, currently classified as an inborn error of immunity (IEI) due to previously reported immune dysregulation. We recently reported the results of an immunological evaluation showing no evidence for a relevant B- and/or T-cell mediated immunodeficiency, … Read more
J Clin Immunol. 2024 Oct 29;45(1):35. doi: 10.1007/s10875-024-01819-1. ABSTRACT C1q deficiency is a rare inborn error of immunity characterized by increased susceptibility to infections and autoimmune manifestations mimicking SLE, with an associated morbidity and mortality. Because C1q is synthesized by monocytes, to date, four patients treated with allogeneic HSCT have been reported, with a positive … Read more
J Clin Immunol. 2024 Oct 28;45(1):34. doi: 10.1007/s10875-024-01810-w. ABSTRACT BACKGROUND: Patients with inborn errors of immunity (IEI) are susceptible to developing cancer due to defects in the immune system. The prevalence of cancer is higher in IEI patients compared to the immunocompetent population and cancers are considered as an important and common cause of death … Read more
J Clin Immunol. 2024 Oct 25;45(1):33. doi: 10.1007/s10875-024-01821-7. ABSTRACT PURPOSE: Newborn screening using dried blood spot (DBS) samples for the targeted measurement of metabolites and nucleic acids has made a substantial contribution to public healthcare by facilitating the detection of neonates with genetic disorders. Here, we investigated the applicability of non-targeted quantitative proteomics analysis to … Read more
J Clin Immunol. 2024 Oct 23;45(1):32. doi: 10.1007/s10875-024-01818-2. ABSTRACT Distinguishing between primary (PID) and secondary (SID) immunodeficiencies, particularly in relation to hematological B-cell lymphoproliferative disorders (B-CLPD), poses a major clinical challenge. We aimed to analyze and define the clinical and laboratory variables in SID patients associated with B-CLPD, identifying overlaps with late-onset PIDs, which could … Read more
J Clin Immunol. 2024 Oct 23;45(1):31. doi: 10.1007/s10875-024-01826-2. ABSTRACT PURPOSE: A causal role of type-I interferons (IFN-I) in autoinflammatory type-I interferonopathies such as SAVI (STING-associated vasculopathy with onset in infancy) and CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures) is suggested by elevated expression of IFN-I stimulated genes (ISGs). Hitherto, the lack of … Read more
J Clin Immunol. 2024 Oct 22;45(1):28. doi: 10.1007/s10875-024-01822-6. ABSTRACT Purpose – The Latin American Society of Immunodeficiencies (LASID) Registry was established in 2009 to collect data on Inborn Errors of Immunity (IEI) patients in the region. Although several reports have been published regarding LASID data, this is the first report of the entire dataset. Methods … Read more
J Clin Immunol. 2024 Oct 22;45(1):30. doi: 10.1007/s10875-024-01814-6. ABSTRACT Receiving the measles vaccination is crucial for controlling the disease and preventing severe complications. However, adverse reactions can occur in individuals with inborn errors of immunity. This case report details a severe reaction to the measles vaccine in a ten-month-old female with a homozygous mutation in … Read more
J Clin Immunol. 2024 Oct 21;45(1):26. doi: 10.1007/s10875-024-01825-3. ABSTRACT Early diagnosis of inborn errors of immunity (IEIs) has been shown to reduce mortality, morbidity, and healthcare costs. The need for early diagnosis has led to the development of computational tools that trigger earlier clinical suspicion by physicians. Primary care professionals serve as the first line … Read more
J Clin Immunol. 2024 Oct 15;45(1):25. doi: 10.1007/s10875-024-01823-5. ABSTRACT Inborn errors of immunity (IEI) are a heterogeneous group of genetic diseases characterized by impaired immune system function. This prospective study aimed to determine the frequency, characteristics, and clinical course of IEI patients admitted to the pediatric intensive care unit (PICU) and identify mortality-related factors. Using … Read more
J Clin Immunol. 2024 Oct 15;45(1):24. doi: 10.1007/s10875-024-01815-5. ABSTRACT X-linked agammaglobulinemia (XLA) due to a mutation in Bruton’s tyrosine kinase (BTK), leads to the arrested development of B cells at the pro-B cell stage. This results in absent B cells and severe hypogammaglobulinemia. XLA patients usually present with recurrent sinopulmonary infection. Bacterial infections are the … Read more
J Clin Immunol. 2024 Oct 10;45(1):23. doi: 10.1007/s10875-024-01812-8. ABSTRACT OBJECTIVE: FAS gene defects lead to autoimmune lymphoproliferative syndrome (ALPS), which is often inherited in an autosomal dominant and rarely in an autosomal recessive manner. We report a case of a newborn girl with novel compound heterozygous variants in FAS and reveal the underlying mechanism. METHODS: … Read more
J Clin Immunol. 2024 Oct 7;45(1):22. doi: 10.1007/s10875-024-01817-3. ABSTRACT Granulomatous disease affects up to 20% of patients with Common Variable Immunodeficiency (CVID). Granulomas are comprised of highly activated immune cells, and emerge in response to antigenic triggers. In CVID granulomas however, the underlying pathophysiology is unclear and the specific trigger remains unknown. Granuloma formation in … Read more
J Clin Immunol. 2024 Oct 4;45(1):21. doi: 10.1007/s10875-024-01811-9. ABSTRACT BACKGROUND: ISG15 deficiency is a mixed syndrome of Mendelian susceptibility to mycobacterial infections (MSMD), a rare inherited condition characterized primarily by recurrent infections from low-virulence mycobacteria and monogenic type I interferonopathy. OBJECTIVE: To characterize the laboratory and molecular features of two patients from different families affected … Read more
