SH2D1A, SH2 domain containing 1A, 4068

N. diseases: 160; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE HSCT is the only curative therapy for XLP and this therapy should be urgently considered.What is Known:• SAP and XIAP deficiencies share common clinical feature, HLH, whereas they also have their own specific manifestations.• IBD affects 25-30% of XIAP-deficient patients, which has been reported in other countries especially in European country and Japan.What is New:• This is the largest patient cohort study of XLP in China.• We firstly summarized the clinical features and outcomes of Chinese XIAP-deficient patients and found only 1 in 22 patients developed IBD and diet background may contribute to it; Asian SAP-deficient patients carrying SH2D1A R55X mutation were more prone to HLH. 31754776 2020
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE X-linked lymphoproliferative disease 1 (XLP1) is a monogenic disorder caused by mutations in SH2D1A, resulting in the absence/dysfunction of the signaling lymphocyte activation molecule (SLAM)-associated protein (SAP). 30391652 2019
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE In human patients with X-linked lymphoproliferative (XLP) disease, which is caused by SAP mutations, SFRs alternatively bind other inhibitory SH2 domain-containing molecules to suppress immune cell activation and development. 30911116 2019
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE The family of EBV (Epstein Barr Virus)-sensitive primary immune deficiencies is one such group and in this paper we describe three families: two with X-linked lymphoproliferative disease type-1 (XLP-1) and one with deficiency of Interleukin-2 Inducible T-cell Kinase (ITK). 30572125 2019
X-Linked Lymphoproliferative Disorder
1.000 Biomarker disease BEFREE Furthermore, SAP deficiency causes X-linked lymphoproliferative disease with multiple immune defects including a lack of circulating NKT cells. 31293596 2019
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE Pathogenic hemizygous variants in the SH2D1A gene cause X-linked lymphoproliferative (XLP) syndrome, a rare primary immunodeficiency usually associated with fatal Epstein-Barr virus infection. 30990878 2019
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE Defective signaling via 2B4 due to mutations in signaling adaptor SAP contributes to X-linked lymphoproliferative Disease (XLP). 30347240 2019
X-Linked Lymphoproliferative Disorder
1.000 Biomarker disease BEFREE T cells from patients with X-linked lymphoproliferative disease (XLP), who lack functional SAP, were hyperresponsive to PD-1 signaling, confirming its inhibitory role downstream of PD-1. 29282323 2018
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE This is exemplified in patients with X-linked lymphoproliferative (XLP) disease, where SAP undergoes a loss of function mutation. 29729453 2018
X-Linked Lymphoproliferative Disorder
1.000 Biomarker disease BEFREE These data demonstrate that autologous T-cell gene therapy corrects SAP-dependent defects and might offer an alternative therapeutic option for patients with X-linked lymphoproliferative disease 1. 29705247 2018
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report. 29649976 2018
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE Signaling lymphocytic activation molecule (SLAM)-associated protein (SAP) mutations in X-linked lymphoproliferative disease (XLP) lead to defective NKT cell development and impaired humoral immunity. 28049627 2017
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma. 28267077 2017
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE X-linked lymphoproliferative disease 1 (XLP1) is an inherited immunodeficiency, caused by mutations in SH2D1A encoding Signaling Lymphocyte Activation Molecule (SLAM)-associated protein (SAP). 28386908 2017
X-Linked Lymphoproliferative Disorder
1.000 GermlineCausalMutation disease ORPHANET Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH. 28196537 2017
X-Linked Lymphoproliferative Disorder
1.000 Biomarker disease BEFREE Mutations in <i>SH2D1A</i> gene that encodes SAP (SLAM-associated protein) result in X-linked lymphoproliferative disease (XLP), a rare primary immunodeficiency disease defined by exquisite sensitivity to the B-lymphotropic Epstein-Barr virus (EBV) and B cell lymphomas. 28344876 2017
X-Linked Lymphoproliferative Disorder
1.000 CausalMutation disease CLINVAR Comparison of Th1/Th2 cytokine profiles between primary and secondary haemophagocytic lymphohistiocytosis. 27209435 2016
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE These data suggest that the novel c.137 + 5G > A mutation results in loss of function of SAP protein and leads to typical X-linked lymphoproliferative disease phenotype. 25491288 2015
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE Maternal onset de novo SH2D1A mutation and lymphocytic choriomeningitis virus infection in a patient with X‑linked lymphoproliferative disease type 1: a case report. 25572984 2015
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE X-linked lymphoproliferative disease 1 (XLP1) is a rare congenital immunodeficiency caused by SH2D1A (Xq25) mutations resulting in lack or dysfunction of SLAM-associated protein adaptor molecule. 24496997 2014
X-Linked Lymphoproliferative Disorder
1.000 Biomarker disease BEFREE Reduced-intensity conditioning hematopoietic cell transplantation is an effective treatment for patients with SLAM-associated protein deficiency/X-linked lymphoproliferative disease type 1. 24923536 2014
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE XLP type 1 is caused by mutations in SH2D1A, whereas X-linked inhibitor of apoptosis (XIAP) encoded by XIAP/BIRC4 is mutated in XLP type 2. 24084330 2014
X-Linked Lymphoproliferative Disorder
1.000 CausalMutation disease CLINVAR Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis. 24985396 2014
X-Linked Lymphoproliferative Disorder
1.000 Biomarker disease BEFREE We tested the reactivity of antibodies isolated from single B cells from SAP-deficient patients with X-linked lymphoproliferative disease (XLP). 24373350 2014
X-Linked Lymphoproliferative Disorder
1.000 GeneticVariation disease BEFREE XLP: clinical features and molecular etiology due to mutations in SH2D1A encoding SAP. 25085526 2014