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 |