Lymphoproliferative disease (LPD) is a comprehensive concept covering diseases ranging from transient lymphadenopathy to lymphoma. LPD is frequently associated with Epstein-Barr virus (EBV) infections and tends to occur in patients with inborn errors of immunity (IEI) and in patients after organ transplantation. Most patients with severe combined immunodeficiency or X-linked lymphoproliferative disease develop LPD. Autoimmune lymphoproliferative syndrome (ALPS), a typical LPD disease, is caused by germline mutations in FAS, FASL, CASP10, CASP8 and FADD, which are involved in the apoptosis pathway. ALPS patients develop autoimmune diseases and LPDs such as hepatosplenomegaly and lymphadenopathy. On the other hand, RAS-associated ALPS-like syndrome and CTLA4 haploinsufficiency also belong to ALPS-associated diseases. EBV-associated LPD is a clinical condition that should be noted in patients with IEI. Patients with genetic defects in SH2D1A, XIAP, CD27, CD70, CD137, ITK, CTPS, RASGRP1, and MAGT1 are prone to EBV-associated LPD.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.11406/rinketsu.61.1365 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Chromosome aberrations and autoimmunity: Immune-mediated diseases associated with 18p deletion and other chromosomal aberrations.
Autoimmun Rev
January 2025
Division of Rheumatology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil; Fleury Medicine and Health, Fleury Group, São Paulo, SP, Brazil. Electronic address:
Recent advances in genomic methodologies have significantly enhanced our understanding of immune-mediated rheumatic diseases. Specific structural variants (SVs), such as substantial DNA deletions or insertions, including chromosomal aberrations, have been implicated in diseases of immune dysregulation. Regrettably, SVs are frequently overlooked in next-generation sequencing (NGS) targeted-gene panels, whole exome sequencing (WES) and whole genome sequencing (WGS).
View Article and Find Full Text PDFEEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Am J Hum Genet
January 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.
View Article and Find Full Text PDF[DiGeorge syndrome with 22q11.2 deletion in a patient of Rarámuri ethnicity].
Rev Alerg Mex
December 2024
Departamento de Inmunología, Hospital Infantil de Especialidades de Chihuahua; Facultad de Medicina y Ciencias Biomédicas, Universidad Autónoma de Chihuahua.
Background: 22q11 deletion syndrome consists of a variable grouping of phenotypic features and immunological defects secondary to the loss of genetic material located in the 22q11.2 band. The 22q11 deletion spectrum encompasses different syndromes related to the same etiology and with overlapping anomalies, including DiGeorge syndrome, velocardiofacial syndrome, among others.
View Article and Find Full Text PDF[Prevalence of bronchiectasis in patients with inborn errors of immunity].
Rev Alerg Mex
December 2024
Pediatra con subespecialidad en Alergia e Inmunología Clínica; jefe del servicio y profesor titular de la especialidad de Alergia e Inmunología Clínica, Unidad Médica de Alta Especialidad, Hospital de Especialidades, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco.
Objective: To establish the prevalence of bronchiectasis, correlate the IgG IV or SC immunoglobulin dose and serum IgG levels with the total Bhalla score and the severity of bronchiectasis and associate serum IgG levels with the development of pulmonary infectious processes in patients with diagnosis of innate errors of immunity.
Methods: A descriptive, observational, cross-sectional study with patients over 18 years of age diagnosed with IBD. Clinical records and computed axial tomography were reviewed.
Bone Disease Associated with Inactivating Aromatase Mutations and its Management.
Calcif Tissue Int
January 2025
Department of Medicine, Surgery and Neurosciences, University of Siena, Policlinico Santa Maria Alle Scotte, Siena, Italy.
Aromatase deficiency (ORPHA:91; OMIM: 613,546) is a rare, autosomal recessive disorder due to loss of function mutations in the CYP19A1 gene, described in both genders with an estimated incidence below 1/1000000. While in female the clinical manifestations generally occur at birth or in early infancy, and mainly involve sexual characteristics, in men clinical signs of aromatase deficiency mostly occur in puberty and especially in late puberty, so that diagnosis is generally established after the second decade due to tall stature, unfused epiphyses and reduced bone mass. Here we review the available information concerning the skeletal and extraskeletal phenotype and the clinical management of bone health in patients with aromatase CYP19A1 gene mutations.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!