Journal of Clinical Immunology

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 Mar 11;45(1):80. doi: 10.1007/s10875-025-01870-6. NO ABSTRACT PMID:40067421 | DOI:10.1007/s10875-025-01870-6

J Clin Immunol. 2025 Feb 27;45(1):79. doi: 10.1007/s10875-025-01868-0. NO ABSTRACT PMID:40014213 | DOI:10.1007/s10875-025-01868-0

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 Feb 7;45(1):72. doi: 10.1007/s10875-025-01865-3. NO ABSTRACT PMID:39918595 | DOI:10.1007/s10875-025-01865-3

J Clin Immunol. 2025 Feb 4;45(1):71. doi: 10.1007/s10875-025-01861-7. NO ABSTRACT PMID:39903395 | DOI:10.1007/s10875-025-01861-7

J Clin Immunol. 2025 Feb 3;45(1):70. doi: 10.1007/s10875-025-01864-4. NO ABSTRACT PMID:39899156 | DOI:10.1007/s10875-025-01864-4

J Clin Immunol. 2025 Jan 29;45(1):69. doi: 10.1007/s10875-025-01859-1. NO ABSTRACT PMID:39878870 | DOI:10.1007/s10875-025-01859-1

J Clin Immunol. 2025 Jan 27;45(1):68. doi: 10.1007/s10875-025-01860-8. NO ABSTRACT PMID:39869247 | DOI:10.1007/s10875-025-01860-8

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 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. 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):62. doi: 10.1007/s10875-024-01852-0. NO ABSTRACT PMID:39746888 | DOI:10.1007/s10875-024-01852-0

J Clin Immunol. 2024 Dec 30;45(1):60. doi: 10.1007/s10875-024-01851-1. NO ABSTRACT PMID:39738734 | DOI:10.1007/s10875-024-01851-1

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 18;45(1):44. doi: 10.1007/s10875-024-01830-6. NO ABSTRACT PMID:39556125 | DOI:10.1007/s10875-024-01830-6

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 16;45(1):43. doi: 10.1007/s10875-024-01832-4. NO ABSTRACT PMID:39547966 | DOI:10.1007/s10875-024-01832-4

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 14;45(1):41. doi: 10.1007/s10875-024-01841-3. NO ABSTRACT PMID:39540960 | DOI:10.1007/s10875-024-01841-3

J Clin Immunol. 2024 Nov 13;45(1):39. doi: 10.1007/s10875-024-01834-2. NO ABSTRACT PMID:39535697 | DOI:10.1007/s10875-024-01834-2

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):29. doi: 10.1007/s10875-024-01820-8. NO ABSTRACT PMID:39436495 | DOI:10.1007/s10875-024-01820-8

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):27. doi: 10.1007/s10875-024-01824-4. NO ABSTRACT PMID:39433707 | DOI:10.1007/s10875-024-01824-4

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

J Clin Immunol. 2024 Oct 2;45(1):20. doi: 10.1007/s10875-024-01813-7. NO ABSTRACT PMID:39356338 | DOI:10.1007/s10875-024-01813-7

J Clin Immunol. 2024 Sep 30;45(1):19. doi: 10.1007/s10875-024-01808-4. NO ABSTRACT PMID:39348076 | DOI:10.1007/s10875-024-01808-4

J Clin Immunol. 2024 Sep 27;45(1):18. doi: 10.1007/s10875-024-01809-3. ABSTRACT INTRODUCTION: This study investigates the frequency of hospital attendances, emergency care attendances and geographical influences on service interaction in cohorts of patients with primary and secondary antibody deficiency, to inform future service planning and delivery. METHODS: The COVID-19 in Antibody Deficiency (COV-AD) study was a United … Read more

J Clin Immunol. 2024 Sep 26;45(1):17. doi: 10.1007/s10875-024-01798-3. ABSTRACT BACKGROUND: Talaromyces marneffei (T. marneffei) is an opportunistic pathogen that causes endemic mycoses, which could lead to multiple organ damage. Talaromycosis is frequently disregarded as an early cautionary sign of immune system disorders in non-HIV-infected children. OBJECTIVE: We conduct a comprehensive review of the genotypes and … Read more

J Clin Immunol. 2024 Sep 25;45(1):16. doi: 10.1007/s10875-024-01807-5. ABSTRACT Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF), is a rare disease with autosomal recessive inheritance. ICF syndrome. It has been reported that ICF syndrome is caused by mutations in the DNMT3B (ICF1), ZBTB24 (ICF2), CDCA7 (ICF3), and HELLS (ICF4) genes. As a result of literature … Read more

J Clin Immunol. 2024 Sep 23;45(1):14. doi: 10.1007/s10875-024-01804-8. NO ABSTRACT PMID:39312089 | PMC:PMC11420255 | DOI:10.1007/s10875-024-01804-8

J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8. ABSTRACT PURPOSE: PI4KA-related disorder is a highly clinically variable condition characterized by neurological (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus) and gastrointestinal (inflammatory bowel disease and multiple intestinal atresia) manifestations. Although features consistent with immunodeficiency (autoimmunity/autoinflammation and recurrent infections) have been reported in a subset … Read more

J Clin Immunol. 2024 Sep 21;45(1):13. doi: 10.1007/s10875-024-01805-7. ABSTRACT Natural antibodies (NAbs) occurring in individuals without prior exposure to specific antigens, provide direct first barrier protection against pathogens, and exert immunoregulation thus actively contributing to the maintenance of immune homeostasis, controlling inflammatory processes and preventing autoimmunity. Common variable immunodeficiency (CVID) is a heterogeneous group of … Read more

J Clin Immunol. 2024 Sep 20;45(1):12. doi: 10.1007/s10875-024-01806-6. ABSTRACT BACKGROUND: Hemophagocytic Lymphohistiocytosis (HLH) carries a high mortality rate. Current existing risk-evaluation methodologies fall short and improved predictive methods are needed. This study aimed to forecast 30-day mortality in adult HLH patients using 11 distinct machine learning (ML) algorithms. METHODS: A retrospective analysis on 431 adult … Read more

J Clin Immunol. 2024 Sep 19;45(1):11. doi: 10.1007/s10875-024-01801-x. NO ABSTRACT PMID:39297999 | PMC:PMC11413082 | DOI:10.1007/s10875-024-01801-x

J Clin Immunol. 2024 Sep 18;45(1):10. doi: 10.1007/s10875-024-01803-9. ABSTRACT PURPOSE: Lipopolysaccharide-responsive beige-like anchor protein (LRBA) encodes a widely expressed cytosolic protein that participates in polarized vesicle trafficking. Homozygous loss-of-function LRBA mutations can lead to immune deficiency due to the lack of immune regulation, classified as a part of Tregopathies. We present a case of a … Read more

J Clin Immunol. 2024 Sep 16;45(1):9. doi: 10.1007/s10875-024-01791-w. ABSTRACT PURPOSE: Immunodysregulation, Polyendocrinopathy, Enteropathy, and X-linked syndrome (IPEX), caused by pathogenic FOXP3 variants, is a rare autoimmune disorder with diverse clinical features, including early-onset diabetes, eczema, and enteropathy. Atypical cases show milder symptoms and unique signs, requiring different treatments. Therefore, there are ambiguities in the accurate … Read more

J Clin Immunol. 2024 Sep 12;45(1):1. doi: 10.1007/s10875-024-01799-2. ABSTRACT PURPOSE: Genetic hypomorphic defects in X chromosomal IKBKG coding for the NF-κB essential modulator (NEMO) lead to ectodermal dysplasia and immunodeficiency in males and the skin disorder incontinentia pigmenti (IP) in females, respectively. NF-κB essential modulator (NEMO) Δ-exon 5-autoinflammatory syndrome (NEMO-NDAS) is a systemic autoinflammatory disease … Read more

J Clin Immunol. 2024 Sep 12;45(1):5. doi: 10.1007/s10875-024-01765-y. NO ABSTRACT PMID:39264509 | DOI:10.1007/s10875-024-01765-y

J Clin Immunol. 2024 Sep 12;45(1):6. doi: 10.1007/s10875-024-01795-6. ABSTRACT BACKGROUND: IL10RA (IL10 receptor subunit alpha) deficiency is an autosomal recessive disease that causes inflammatory bowel disease during early infancy. Its clinical course is often fatal and the only curative treatment is allogeneic hematopoietic cell transplantation (HCT). In Japan, only case reports are available, and there … Read more

J Clin Immunol. 2024 Sep 12;45(1):8. doi: 10.1007/s10875-024-01794-7. NO ABSTRACT PMID:39264481 | PMC:PMC11393103 | DOI:10.1007/s10875-024-01794-7

J Clin Immunol. 2024 Sep 12;45(1):4. doi: 10.1007/s10875-024-01797-4. ABSTRACT High ferritin is an important and sensitive biomarker for the various forms of hemophagocytic lymphohistiocytosis (HLH), a diverse and deadly group of cytokine storm syndromes. Early action to prevent immunopathology in HLH often includes empiric immunomodulation, which can complicate etiologic work-up and prevent collection of early/pre-treatment … Read more