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
- 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 - PURPOSE: The inborn errors of immunity (IEIs) are a group of heterogeneous disorders. Although autoimmunity frequently coexists with IEIs, the manifestations vary greatly across different disorders. Most cases are recognized only after clinical symptoms emerge, impacting outcomes. However, limited research has been reported on how to achieve early identification. In this study, we aim to identify early or subclinical autoimmune reactivity and associated immunological patterns in patients with IEIs, and to explore differences among various IEI genotypes. METHODS: The clinical records and laboratory data of 26 patients were reviewed. Immunophenotypes were evaluated by multiparametric flow cytometry. Genetic findings were confirmed by whole-exome sequencing (WES). Autoantibodies were detected via antigen microarray analysis. RESULTS: We focused on several types of inborn errors of immunity that are prone to autoimmune diseases including 5 CD40LG mutations, 4 RAG1/2 mutations, 1 IL2RG mutation, 1 DOCK8 mutation, 1 SH2D1A mutation, 1 FAS mutation, 1 FOXP3 mutation, 1 TNFAIP3 mutation, 6 STAT3 gain-of-function (GOF) mutations, 3 STAT3 loss-of-function (LOF) mutations, and 2 CTLA4 mutations. Approximately 31% had clinical autoimmune manifestations, while several asymptomatic patients showed elevated autoantibodies. Some patients exhibited broad IgG and/or IgM autoantibody profiles targeting nuclear, cell membrane, and organ-specific antigens, which were associated with certain clinical features or immune subsets, such as increased double-negative T (DNT) cells and marginal zone B (MZB) cells. CONCLUSION: Antigen microarrays may enable early identification of autoimmune risk in IEI patients even before symptoms arise. Patients with genotypes such as STAT3 GOF were more likely to develop autoimmunity. The breadth of IgM autoantibodies correlated positively with MZB cell frequency, and higher DNT cell levels were significantly associated with clinical autoimmunity, suggesting potential utility for early risk stratification. - Source: PubMed
Publication date: 2026/04/21
Zhang WenjunSun BijunWang WenjieZhu KeWu QiLiu LuyaoWang ChenghaoXiao FeifanZhou QinhuaWang XiaochuanSun Jinqiao