Ask about this productRelated genes to: SH2D1A Blocking Peptide
- Gene:
- SH2D1A NIH gene
- Name:
- SH2 domain containing 1A
- Previous symbol:
- IMD5, LYP
- Synonyms:
- XLP, MTCP1, DSHP, XLPD, EBVS, SAP
- Chromosome:
- Xq25
- Locus Type:
- gene with protein product
- Date approved:
- 1989-06-30
- Date modifiied:
- 2019-04-23
Related products to: SH2D1A Blocking Peptide
Related articles to: SH2D1A Blocking Peptide
- Identifying genetic cause(s) is a key step for management and treatment of patients with inborn errors of immunity (IEI). Here, in an observational cross-sectional genomic study, we analyzed whole-genome sequencing (WGS) data of 72 IEI patients from Saint Petersburg and Northwestern Russia: 42 patients with common variable immunodeficiency (CVID)-like phenotypes, 6 patients with clinically diagnosed X-linked agammaglobulinemia (XLA or Bruton's disease), and 24 patients with other forms of IEI. Causative pathogenic and likely pathogenic variants in , , , , , , , and genes were identified in 14 (19%) patients. Variants of uncertain significance that could be linked to observed clinical phenotypes were detected in 6 patients. These included a variant in a patient with Bruton's disease, variants in , , and in patients with CVID, and variants in and in patients with other forms of IEI. Additional rare variants that were mostly unique to individual patients were found in multiple IEI genes from the International Union of Immunological Societies (IUIS) Expert Committee 2024 list. In the CVID-like subcohort, pathway-level analysis of these rare variants revealed patterns associated with clinical manifestations. Taken together, our results expand the genetic characterization of an understudied regional IEI cohort, particularly of patients with CVID-like phenotypes, and identify genetic factors that are implicated in or may contribute to the disease. - Source: PubMed
Publication date: 2026/09/05
Petrusenko YunnaSavin TikhonSedykh AnnaChekanov NikolayKlimuk EvgenyOstankova YuliaKuznetsova RaisaChernyshova AnnaMilichkina AnzhelikaTotolian AregSeverinov Konstantin - Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition that results from a severe inflammation caused by an exaggerated immune response. HLH may have a genetic cause affecting the proper function of cytotoxic immune cells or it canbe linked to other pathological settings including inborn errors of immunity, malignancies, autoinflammatory and autoimmune syndromes, metabolic diseases, or acquired immunodeficiencies. HLH due to a genetic error remains difficult to diagnose because anormal Natural Killer (NK) or cytotoxic T lymphocyte (CTL) function does not necessarily exclude a familial form of HLH affecting immune cells other than cytotoxic lymphocytes, or because patients with autoimmune or autoinflammatory syndromes can also fulfill the HLH criteria. In consequence, sensitive functional assays and assessment of the expression of proteins involved in lytic-granules exocytosis may be useful approaches for discriminating between familial forms of HLH from those where a genetic cause is not affecting cytotoxic cell function, or from acquired forms of HLH. - Source: PubMed
Publication date: 2026/07/03
Gutiérrez-Guerrero ArturoLugo-Reyes Saul OLópez-Rivera Daniela OliviaSánchez-Herrera JacquelineValenzuela-Vázquez LuceroEstevez-Mieres MercyNuñez Nuñez Maria EnriquetaBayardo-Gutiérrez BeatrizLona-Reyes Juan CarlosCruz-Osorio Rosa MargaritaSoto-Chavez VeronicaBedolla-Barajas MartínGutierrez-Hernández José AlonsoBarragan-Arevalo TaniaHidalgo-Martinez Maria FernandaGomez-Cardenas LilianaSierra-Muñoz DiegoPerea Alvarez SamanthaVenegas-Montoya EdnaStaines-Boone Aide TamaraZarate-Hernández Maria Del CarmenMiranda-Saavedra Vania MariaArce-Estrada Gabriel EmmanuelScheffler-Mendoza SelmaBustamante-Ogando Juan CarlosLlamas-Guillén Beatriz AdrianaRuiz-Fernández MiguelReynoso-Arenas Perla VeronicaFlores-Munguía Martín EduardoTorres-Lozano CarlosBonal-Pérez Miguel AngelMamani-Velásquez Estefany GracielaMartínez-Barricarte RubénRamírez-Uribe Rosa María NideshdaPastor NinaMartinez-Duncker IvanGaytan PaulYañez Jorge AYamazaki-Nakashimada Marco AntonioLenoir ChristelleLatour SylvainEspinosa Sara ElvaCruz-Munoz Mario Ernesto - Neonates are highly susceptible to infection, a major cause of neonatal death, given their immature immune system. Comprehensive studies examining multiple immune-response-related proteins in relation to neonatal infection are scarce. We conducted a nested case-control study within the Shenzhen Baoan Birth and Twin (SZBBTwin) cohort, measuring 92 immune-response-related proteins in cord plasma of 149 twins (including 34 discordant twin pairs) with proximity extension assay. All twins were followed for clinical diagnoses of infection from birth until 27 days of age. Wilcoxon rank-sum test was used to determine differentially abundant proteins (DAPs) between infected and noninfected neonates, the predictive performance of which was evaluated by receiver operating characteristic curves, and their functions and pathways were annotated through enrichment analysis. Logistic regression was used to assess the associations between levels of proteins and risk of neonatal infection. Finally, five DAPs (ITGA11, FCRL6, DDX58, SH2D1A, and EDAR) were identified for neonatal infection, and the area under the curve of the five DAPs achieved 0.835 for infection prediction. Enrichment analysis indicated that five DAPs were mainly involved in immune function and cell binding, and they were mainly enriched in the nuclear factor kappa-B pathway. A higher level of ITGA11 was associated with an increased risk of neonatal infection in all twins ( 3.00; 95% CI [1.33, 6.78]) and discordant twin pairs ( 5.50; 95% CI [1.20, 25.23]). In conclusion, multiple immune-response-related proteins in cord plasma, particularly ITGA11, are associated with the risk of neonatal infection in twins. - Source: PubMed
Publication date: 2026/07/10
Chen RuoqingTan WeiriZheng YeqiWu FengYe XiaominLiang HuiChen YoumeiLiu XianZhang RuiZhang QuanfuChen Xu - Small cell lung cancer (SCLC) is a highly aggressive neuroendocrine malignancy with an immunosuppressive tumor microenvironment, and current immunotherapy provides limited benefit. This highlights the need to identify microenvironmental features enabling effective immune responses. High endothelial venules (HEVs) are critical for lymphocyte recruitment and antitumor immunity, yet their roles in SCLC remain poorly understood. To investigate HEV-related features among SCLC patients, five bulk RNA-seq datasets comprising 583 tumor samples were integrated. HEV-related signatures stratified SCLC patients into two subtypes, C1 and C2, associated with HEV-high and HEV-low states, respectively. C1 showed a more immune-active microenvironment and superior prognosis. Consistently, using single-cell RNA-seq data and validating the findings by immunofluorescence staining in an independent cohort of 80 patients with SCLC, we confirmed that the presence of HEV structures was associated with a favorable prognosis. We further established a prognostic model and identified five genes, PDCD1, CXCL9, ITK, ITGAL, and SH2D1A, as key favorable prognostic factors. A nomogram incorporating age, tumor stage, and the prognostic model was also developed and exhibited satisfactory performance. Additionally, we explored the translational potential of promoting HEV formation as a therapeutic strategy in SCLC. In murine SCLC models, radiotherapy combined with immunotherapy promoted HEV formation and enhanced antitumor efficacy. HEVs appeared to serve as a critical link underlying the therapeutic synergy between radiotherapy and immunotherapy. Collectively, these findings highlight the biological and clinical relevance of HEVs in SCLC and suggest that combination strategies aimed at promoting HEV formation may help overcome the limited efficacy of immunotherapy. - Source: PubMed
Publication date: 2026/07/03
Fang JiatianWang ZilianWang HuiXue JianxinKang Kai - X-linked lymphoproliferative syndrome type 1 (XLP1) is an inborn error of immunity caused by pathogenic variants in and is frequently complicated by Epstein-Barr virus (EBV)-associated lymphoproliferative disorders (LPDs). However, cases of LPD without EBV infection have been reported and remain poorly understood. We investigated tumorigenesis mechanisms through transcriptomic profiling and somatic variant analysis in tumor samples from six patients with XLP1. Pathogenic variants were identified in two: one developed two distinct LPDs harboring / and variants, while the other carried , , , and variants. Transcriptome analysis of three tumors, compared with diffuse large B cell lymphoma from patients without an underlying immune defect, revealed a distinct expression profile. Gene Ontology analysis showed upregulation of adaptive immune response genes, including various and genes, suggesting polyclonal lymphocyte proliferation. Overall, LPD associated with XLP1 may originate from polyclonal lymphocyte expansion, either in the presence or absence of EBV infection, and subsequently progress to malignancy through somatic variants. - Source: PubMed
Publication date: 2026/03/12
Tomomasa DanNishimura AkiraYoshida KenichiNamikawa YuiKim Doo RiSakata NaokiSakamoto KenichiTaga TakashiSakai YutaIkawa YasuhiroIshida ToshiakiShin AreumYoo Keon HeeKim Yae-JeanOgawa SeishiHoshino AkihiroMorio TomohiroTakagi MasatoshiKanegane Hirokazu