Journal of Clinical Immunology – Page 19

Successful Treatment with Sirolimus of a Patient with a Novel CARD11 Germline Mutation in B-Cell Expansion with Nuclear Factor Kappa B and T-Cell Anergy: Case Report and Literature Review

25 de February de 2025 by

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

Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report

20 de February de 2025 by

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

X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation

20 de February de 2025 by

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

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