Journal of Clinical Immunology

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