|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
X-linked lymphoproliferative syndrome (XLP) is a rare primary immunodeficiency disease that can be divided into two types: SAP deficiency (XLP1) and XIAP deficiency (XLP2), caused by mutations in the SH2D1A and XIAP genes, respectively.
|
31754776 |
2020 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, CASP9 and its downstream effector Caspase 3 were counteracted by endogenous X-linked Inhibitor of Apoptosis (XIAP) to regulate the oocyte population; while XIAP overexpression mimicked CASP9 deficiency, XIAP deficiency accelerated oocyte loss.
|
31624230 |
2019 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
Biomarker
|
disease |
BEFREE |
IAP inhibition or loss of both cIAP2 and XIAP resulted in a strong blockage in autophagic flux and mitophagy, suggesting that XIAP deficiency may also drive Crohn's Disease due to defects in autophagy.
|
29743550 |
2018 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
CausalMutation
|
disease |
CLINVAR |
Novel X-Linked Inhibitor of Apoptosis Mutation in Very Early-Onset Inflammatory Bowel Disease Child Successfully Treated with HLA-Haploidentical Hemapoietic Stem Cells Transplant after Removal of αβ+ T and B Cells.
|
29312354 |
2017 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.
|
27537055 |
2016 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.
|
27537055 |
2016 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
The BIRC4 nonsense mutation p.P225SfsX226 was identified as the genetic cause of XIAP deficiency in our family.
|
25943627 |
2015 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
CausalMutation
|
disease |
CLINVAR |
Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency.
|
24084330 |
2014 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
Biomarker
|
disease |
BEFREE |
Based on recent evidence that XIAP is essential for nucleotide-binding and oligomerization domains (NOD)1/2 signalling, we evaluated the use of a simple flow cytometric assay assessing tumour necrosis factor (TNF) production of monocytes in response to NOD2 stimulation by muramyl dipeptides (L18-MDP) for the functional diagnosis of XIAP deficiency.
|
24611904 |
2014 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
CausalMutation
|
disease |
CLINVAR |
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes.
|
23131490 |
2013 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Seven out of eight patients showed decreased XIAP protein expression. iNKT cells from patients with XIAP deficiency were significantly decreased as compared with age-matched healthy controls.
|
22228567 |
2012 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
AlteredExpression
|
disease |
BEFREE |
Seven out of eight patients showed decreased XIAP protein expression. iNKT cells from patients with XIAP deficiency were significantly decreased as compared with age-matched healthy controls.
|
22228567 |
2012 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
Biomarker
|
disease |
BEFREE |
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).
|
21119115 |
2011 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
CausalMutation
|
disease |
CLINVAR |
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).
|
21119115 |
2011 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
CausalMutation
|
disease |
CLINVAR |
Two new families with X-linked inhibitor of apoptosis deficiency and a review of all 26 published cases.
|
21281876 |
2011 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
The mechanism of action in the newest X-linked disorder associated with HLH, XIAP deficiency (also termed XLP 2), is currently unknown.
|
21971331 |
2011 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
Biomarker
|
disease |
BEFREE |
Flow cytometric analysis of intracellular XIAP provides a rapid screening test for XLP due to XIAP deficiency.
|
19288545 |
2009 |
|
Lymphoproliferative Syndrome, X-Linked, 2
|
0.690 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Inflammatory Bowel Diseases
|
0.400 |
GeneticVariation
|
group |
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 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.400 |
Biomarker
|
disease |
BEFREE |
One XIAP- and three SAP-deficient patients died, while 3/7(42.9%) and 4/13(30.8%), respectively, developed hemophagocytic lymphohistiocytosis (HLH).
|
31754776 |
2020 |
|
X-Linked Lymphoproliferative Disorder
|
0.400 |
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 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.400 |
Biomarker
|
disease |
BEFREE |
The pediatric immune deficiency X-linked proliferative disease-2 (XLP-2) is a unique disease, with patients presenting with either hemophagocytic lymphohistiocytosis (HLH) or intestinal bowel disease (IBD).
|
31541082 |
2019 |
|
X-Linked Lymphoproliferative Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
Patients with X-linked lymphoproliferative syndrome type 2 (XLP-2) (BIRC4 deficiency) suffer from hyperinflammation often observed during the conditioning regimen prior to allogeneic bone marrow transplant.
|
30585320 |
2019 |
|
Inflammatory Bowel Diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
We performed direct gene sequencing looking for 94 variations in NOD2, ATG16L1, IL23R, IL10R, IL10 and XIAP genes previously shown as correlated with IBD both in multifactorial and in Mendelian models.
|
29248579 |
2018 |
|
Inflammatory Bowel Diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
This potential redundancy is critically important, given that genetic loss of XIAP causes both very early onset inflammatory bowel disease and X-linked lymphoproliferative syndrome 2 (XLP-2) and that the overexpression of cIAP1 and cIAP2 is linked to both carcinogenesis and chemotherapeutic resistance.
|
30018081 |
2018 |