Journal of Clinical Immunology – Page 8

Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond

13 de February de 2025 by

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

Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening

11 de February de 2025 by

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

Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation

10 de February de 2025 by

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

Correction to: Dissecting Secondary Immunodeficiency: Identification of Primary Immunodeficiency within B-Cell Lymphoproliferative Disorders

7 de February de 2025 by

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

Interstitial Lung Disease in a Girl with Prolidase Deficiency

4 de February de 2025 by

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

Correction to: Anifrolumab in Monogenic Lupus caused by TREX1 Mutation

3 de February de 2025 by

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

Correction to: Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity

29 de January de 2025 by

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

Hematopoietic Stem Cell Transplantation Corrects IL-2Rβ Deficiency

27 de January de 2025 by

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

ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects

24 de January de 2025 by

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

Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells

15 de January de 2025 by

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