XLP2
MCID: LYM114
MIFTS: 54

Lymphoproliferative Syndrome, X-Linked, 2 (XLP2)

Categories: Blood diseases, Cancer diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Lymphoproliferative Syndrome, X-Linked, 2

MalaCards integrated aliases for Lymphoproliferative Syndrome, X-Linked, 2:

Name: Lymphoproliferative Syndrome, X-Linked, 2 57 19 73 12 71
Xlp2 57 11 19 58 73
Xiap Deficiency 57 11 19 73
X-Linked Lymphoproliferative Disease Due to Xiap Deficiency 58 28 5
X-Linked Lymphoproliferative Syndrome 2 11 19 14
Xiap-Related Lymphoproliferative Disease, X-Linked 19
X-Linked Lymphoproliferative Syndrome Type 2 58
Xiap Deficiency Syndrome 58

Characteristics:


Inheritance:

Lymphoproliferative Syndrome, X-Linked, 2: X-linked recessive 57
X-Linked Lymphoproliferative Disease Due to Xiap Deficiency: X-linked recessive 58

Prevelance:

X-Linked Lymphoproliferative Disease Due to Xiap Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

X-Linked Lymphoproliferative Disease Due to Xiap Deficiency: Adolescent,Adult,Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
highly variable phenotype
onset in first decades of life, usually early childhood
later onset can occur
death can occur
males are more severely affected
some female carries may have milder manifestations
the incidence of mutation in xiap leading to xlp2 is estimated to be 1 to 2 cases per million live births


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare immunological diseases


External Ids:

Disease Ontology 11 DOID:0060706
OMIM® 57 300635
OMIM Phenotypic Series 57 PS308240
MeSH 43 D008232
ICD10 31 D82.3
ICD10 via Orphanet 32 D82.3
Orphanet 58 ORPHA538934
MedGen 40 C1845076
UMLS 71 C1845076

Summaries for Lymphoproliferative Syndrome, X-Linked, 2

OMIM®: 57 XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. Laboratory abnormalities are variable, but can include hypogammaglobulinemia, cytopenias, and low levels of a particular subset of T cells known as NKT (or iNKT) cells. Functional studies show increased sensitivity of T cells to apoptosis (activation-induced cell death, AICD), impaired cytokine production, including of TNF-alpha (TNFA; 191160), and general dysregulation of the immune pathway, such as increased levels of IL18 (600953). However, circulating levels of lymphocytes and NK cells are usually normal. Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. Female mutation carriers are usually asymptomatic, although some female carriers may have less severe manifestations, which appears to depend on X-inactivation patterns (summary by Yang et al., 2012; review by Latour and Aguilar, 2015). Latour and Aguilar (2015) provided a detailed review of XIAP deficiency, including clinical features, molecular genetics, and pathophysiology. For a general phenotypic description and a discussion of genetic heterogeneity of X-linked lymphoproliferative syndrome, see XLP1 (308240). (300635) (Updated 08-Dec-2022)

MalaCards based summary: Lymphoproliferative Syndrome, X-Linked, 2, also known as xlp2, is related to hemophagocytic lymphohistiocytosis, familial, 1 and enterocolitis. An important gene associated with Lymphoproliferative Syndrome, X-Linked, 2 is XIAP (X-Linked Inhibitor Of Apoptosis), and among its related pathways/superpathways are Innate Immune System and NF-kappaB Signaling. The drugs polysaccharide-K and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are splenomegaly and fever

GARD: 19 X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.

Orphanet: 58 A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked XIAP gene, resulting in B cell lymphoproliferation and manifestating with various phenotypes which include EBV-driven hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, recurrent splenomegaly, hepatitis, colitis, and intestinal bowel disease with features of Crohn's disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare and lymphoma is never observed. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells.

Disease Ontology: 11 A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has material basis in mutation in the XIAP gene on chromosome Xq25.

UniProtKB/Swiss-Prot: 73 A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma.

Related Diseases for Lymphoproliferative Syndrome, X-Linked, 2

Diseases in the Lymphoproliferative Syndrome, X-Linked, 1 family:

Lymphoproliferative Syndrome, X-Linked, 2

Diseases related to Lymphoproliferative Syndrome, X-Linked, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 1 30.4 UNC13D STXBP2 STX11 SH2D1A RAB27A FHL2
2 enterocolitis 29.8 NOD2 NLRC4
3 lymphoproliferative syndrome, x-linked, 1 29.8 XIAP UNC13D STXBP2 STX11 SLAMF1 SH2D1A
4 macrophage activation syndrome 29.8 UNC13D RAB27A NLRC4
5 agammaglobulinemia 29.7 STX11 SH2D1A ITK
6 inflammatory bowel disease 1 29.6 RIPK2 NOD2 NOD1
7 lymphoproliferative syndrome 29.6 XIAP UNC13D SLAMF1 SH2D1A LRBA ITK
8 dysgammaglobulinemia 29.3 XIAP STXBP2 SLAMF1 SH2D1A MAGT1 LRBA
9 inflammatory bowel disease 29.1 TTC7A RIPK2 NOD2 NOD1 LRBA IL10RA
10 lymphoproliferative syndrome 2 28.7 XIAP UNC13D STXBP2 STX11 SLAMF1 SH2D1A
11 hemophagocytic lymphohistiocytosis 28.3 XIAP UNC13D STXBP2 STX11 SLAMF1 SH2D1A
12 immune deficiency disease 10.3
13 splenomegaly 10.3
14 turner syndrome 10.3
15 systemic epstein-barr virus positive t-cell lymphoma of childhood 10.2 STXBP2 SH2D1A
16 graft-versus-host disease 10.2
17 bowel dysfunction 10.2
18 psoriasis 15 10.1 UNC13D STXBP2 RAB27A
19 crohn's disease 10.1
20 acute graft versus host disease 10.1
21 acute hemorrhagic encephalitis 10.1 UNC13D STXBP2 STX11 SH2D1A
22 immunodeficiency 20 10.0 UNC13D MAGT1
23 hermansky-pudlak syndrome 2 10.0 STXBP2 STX11 LYST AP3B1
24 pfeiffer syndrome 10.0
25 familial mediterranean fever 10.0
26 agammaglobulinemia, x-linked 10.0
27 lymphoma 10.0
28 uveitis 10.0
29 primary agammaglobulinemia 10.0
30 autoinflammation, panniculitis, and dermatosis syndrome 10.0 RIPK2 NOD2
31 immunodeficiency 60 9.9 MAGT1 LRBA
32 hemophagocytic lymphohistiocytosis, familial, 3 9.9 UNC13D STXBP2 STX11 SH2D1A RAB27A
33 immunodeficiency 14 9.9 SH2D1A MAGT1 LRBA
34 hemophagocytic lymphohistiocytosis, familial, 2 9.9 UNC13D STXBP2 STX11 SH2D1A FHL2
35 ras-associated autoimmune leukoproliferative disorder 9.9 SH2D1A MAGT1 LRBA
36 hepatic venoocclusive disease with immunodeficiency 9.9 TTC7A LYST
37 piebald trait 9.9 UNC13D STXBP2 STX11 RAB27A LYST
38 autoimmune disease 9.8
39 pick disease of brain 9.8
40 niemann-pick disease, type c1 9.8
41 deficiency anemia 9.8
42 exanthema subitum 9.8
43 colitis 9.8
44 ileitis 9.8
45 hepatic veno-occlusive disease 9.8
46 erythema nodosum 9.8
47 brucellosis 9.8
48 neutropenia 9.8
49 niemann-pick disease 9.8
50 histiocytosis 9.8

Graphical network of the top 20 diseases related to Lymphoproliferative Syndrome, X-Linked, 2:



Diseases related to Lymphoproliferative Syndrome, X-Linked, 2

Symptoms & Phenotypes for Lymphoproliferative Syndrome, X-Linked, 2

Human phenotypes related to Lymphoproliferative Syndrome, X-Linked, 2:

30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 30 Very rare (1%) HP:0001744
2 fever 30 Very rare (1%) HP:0001945
3 hypertriglyceridemia 30 Very rare (1%) HP:0002155
4 hepatitis 30 Very rare (1%) HP:0012115
5 hemophagocytosis 30 Very rare (1%) HP:0012156
6 hypofibrinogenemia 30 Very rare (1%) HP:0011900
7 aplastic anemia 30 Very rare (1%) HP:0001915
8 increased circulating ferritin concentration 30 Very rare (1%) HP:0003281
9 hepatomegaly 30 HP:0002240
10 recurrent respiratory infections 30 HP:0002205
11 immunodeficiency 30 HP:0002721
12 acne 30 HP:0001061
13 recurrent fever 30 HP:0001954
14 recurrent skin infections 30 HP:0001581
15 colitis 30 HP:0002583
16 erythema nodosum 30 HP:0012219
17 folliculitis 30 HP:0025084
18 decreased circulating antibody level 30 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Spleen:
splenomegaly

Respiratory:
recurrent respiratory infections

Immunology:
recurrent infections
recurrent fever
hypogammaglobulinemia (in some patients)
primary immunodeficiency
hemophagocytic lymphohistiocytosis (hlh)
more
Hematology:
pancytopenia (in some patients)
aplastic anemia (rare)

Abdomen Liver:
hepatomegaly

Skin Nails Hair Skin:
acne
erythema nodosum
folliculitis
skin infections

Abdomen Gastrointestinal:
colitis
inflammatory bowel disease

Clinical features from OMIM®:

300635 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Lymphoproliferative Syndrome, X-Linked, 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.91 AP3B1 IL10RA ITK LRBA LYST MAGT1
2 hematopoietic system MP:0005397 9.58 AP3B1 IL10RA ITK LRBA LYST MAGT1

Drugs & Therapeutics for Lymphoproliferative Syndrome, X-Linked, 2

Drugs for Lymphoproliferative Syndrome, X-Linked, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 polysaccharide-K Phase 3
2 Pharmaceutical Solutions Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multicenter, Double-blind, Placebo-controlled, Randomized Withdrawal Trial With Tadekinig Alfa (r-hIL-18BP) in Patients With IL-18 Driven Monogenic Autoinflammatory Conditions: NLRC4 Mutation and XIAP Deficiency Recruiting NCT03113760 Phase 3 Tadekinig alfa
2 Open-label Extension Study With Tadekinig Alfa (r-hIL-18BP) to Monitor Safety and Tolerability in Patients With IL-18 Driven Monogenic Autoinflammatory Conditions: NLRC4 Mutation and XIAP Deficiency Recruiting NCT03512314 Phase 3 Tadekinig alfa

Search NIH Clinical Center for Lymphoproliferative Syndrome, X-Linked, 2

Genetic Tests for Lymphoproliferative Syndrome, X-Linked, 2

Genetic tests related to Lymphoproliferative Syndrome, X-Linked, 2:

# Genetic test Affiliating Genes
1 X-Linked Lymphoproliferative Disease Due to Xiap Deficiency 28 XIAP

Anatomical Context for Lymphoproliferative Syndrome, X-Linked, 2

Organs/tissues related to Lymphoproliferative Syndrome, X-Linked, 2:

MalaCards : T Cells, B Cells, Nk Cells, Skin, Monocytes, Bone Marrow, Bone
ODiseA: Blood And Bone Marrow

Publications for Lymphoproliferative Syndrome, X-Linked, 2

Articles related to Lymphoproliferative Syndrome, X-Linked, 2:

(show top 50) (show all 107)
# Title Authors PMID Year
1
Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency. 62 57 5
25943627 2015
2
XIAP deficiency syndrome in humans. 62 57 5
25666262 2015
3
Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation. 62 57 5
26182687 2015
4
Clinical and genetic characteristics of XIAP deficiency in Japan. 62 57 5
22228567 2012
5
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). 62 57 5
21119115 2011
6
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. 62 57 5
17080092 2006
7
Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan. 62 5
27815752 2017
8
A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report. 62 5
26581487 2015
9
A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele. 62 57
25744037 2015
10
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. 62 5
23973892 2013
11
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP. 5
29665027 2018
12
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. 5
29312354 2017
13
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
14
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. 57
21173700 2011
15
A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly. 57
20015872 2010
16
Screening of semen donors. 5
1543760 1992
17
Lentiviral Gene Transfer Corrects Immune Abnormalities in XIAP Deficiency. 62
36329240 2022
18
Maternal Gonosomal Mosaicism Causes XIAP Deficiency. 62
36441290 2022
19
Post-SARS-CoV-2 Atypical Inflammatory Syndrome in a Toddler with X-Linked Inhibitor of Apoptosis Deficiency After Stem Cell Transplant. 62
35821452 2022
20
Epstein Barr virus-mediated transformation of B cells from XIAP-deficient patients leads to increased expression of the tumor suppressor CADM1. 62
36270981 2022
21
When to suspect inborn errors of immunity in Epstein-Barr virus-related lymphoproliferative disorders. 62
36209991 2022
22
Does shining a spotlight on XIAP deficiency bring the role of allogeneic HCT into better focus? 62
35716950 2022
23
Quercetin ameliorates XIAP deficiency-associated hyperinflammation. 62
35687753 2022
24
An efficient diagnosis: A patient with X-linked inhibitor of apoptosis protein (XIAP) deficiency in the setting of infantile hemophagocytic lymphohistiocytosis was diagnosed using high serum interleukin-18 combined with common laboratory parameters. 62
35187790 2022
25
Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency. 62
34920033 2022
26
A Case of XIAP Deficiency Successfully Managed with Tadekinig Alfa (rhIL-18BP). 62
35304666 2022
27
Endoscopic balloon dilations for strictures of rectum, ileocecal valve and duodenum in a patient with X-linked inhibitor of apoptosis deficiency: a case report. 62
35124956 2022
28
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence. 62
35000057 2022
29
Intestinal outcome of bone marrow transplantation for monogenic inflammatory bowel disease. 62
33884705 2022
30
Absent X-linked inhibitor of apoptosis protein expression in T cell blasts and causal mutations including non-coding deletion. 62
34145698 2022
31
Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18. 62
35958573 2022
32
Reduced-Intensity/Reduced-Toxicity Conditioning Approaches Are Tolerated in XIAP Deficiency but Patients Fare Poorly with Acute GVHD. 62
34586554 2022
33
XIAP restrains TNF-driven intestinal inflammation and dysbiosis by promoting innate immune responses of Paneth and dendritic cells. 62
34739338 2021
34
Paneth cell dysfunction and the intestinal microbiome in XIAP deficiency. 62
34739344 2021
35
Late-Onset Progressive Multifocal Leukoencephalopathy (PML) and Lymphoma in a 65-Year-Old Patient with XIAP Deficiency. 62
34580798 2021
36
Hematopoietic Cell Transplantation Rescues Inflammatory Bowel Disease and Dysbiosis of Gut Microbiota in XIAP Deficiency. 62
34246792 2021
37
Infection-induced inflammation from specific inborn errors of immunity to COVID-19. 62
33971084 2021
38
Interpretation of XIAP Variants of Uncertain Significance in Paediatric Patients with Refractory Crohn's Disease. 62
33460440 2021
39
Hemophagocytic lymphohistiocytosis secondary to X-linked lymphoproliferative syndrome type 2. 62
32819764 2021
40
Expanding clinical spectrum of female X-linked lymphoproliferative syndrome 2. 62
32686289 2021
41
Evolution of Our Understanding of XIAP Deficiency. 62
34222142 2021
42
Inherited chromosomally integrated human herpesvirus-6 in a patient with XIAP deficiency. 62
32424944 2020
43
Epstein-Barr virus-related hemophagocytic lymphohistiocytosis complicated with coronary artery dilation and acute renal injury in a boy with a novel X-linked inhibitor of apoptosis protein (XIAP) variant: a case report. 62
33008347 2020
44
Haploidentical Hematopoietic Stem Cell Transplantation for XIAP Deficiency: a Single-Center Report. 62
32627096 2020
45
X-linked inhibitor of apoptosis protein deficiency complicated with Crohn's disease-like enterocolitis and Takayasu arteritis: A case report. 62
32540394 2020
46
Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease. 62
32514016 2020
47
Eosinophilic colitis in a boy with a novel XIAP mutation: a case report. 62
32305064 2020
48
X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic. 62
31754776 2020
49
Interplay between Caspase 9 and X-linked Inhibitor of Apoptosis Protein (XIAP) in the oocyte elimination during fetal mouse development. 62
31624230 2019
50
Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review. 62
31232887 2019

Variations for Lymphoproliferative Syndrome, X-Linked, 2

ClinVar genetic disease variations for Lymphoproliferative Syndrome, X-Linked, 2:

5 (show top 50) (show all 244)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 XIAP NM_001167.4(XIAP):c.292del (p.Glu99fs) DEL Pathogenic
11645 rs1556404534 GRCh37: X:123019804-123019804
GRCh38: X:123885954-123885954
2 XIAP NM_001167.4(XIAP):c.352G>T (p.Glu118Ter) SNV Pathogenic
11646 rs104894764 GRCh37: X:123019864-123019864
GRCh38: X:123886014-123886014
3 XIAP XIAP, 2606-BP DEL DEL Pathogenic
11647 GRCh37:
GRCh38:
4 XIAP NM_001167.4(XIAP):c.608G>A (p.Cys203Tyr) SNV Pathogenic
37244 rs387907301 GRCh37: X:123020120-123020120
GRCh38: X:123886270-123886270
5 XIAP NM_001167.4(XIAP):c.672dup (p.Pro225fs) DUP Pathogenic
446510 rs1556404697 GRCh37: X:123020181-123020182
GRCh38: X:123886331-123886332
6 XIAP NM_001167.4(XIAP):c.1021_1022del (p.Asn341fs) DEL Pathogenic
446508 rs1556406033 GRCh37: X:123025131-123025132
GRCh38: X:123891281-123891282
7 XIAP NM_001167.4(XIAP):c.651del (p.Trp217fs) DEL Pathogenic
446509 rs1556404673 GRCh37: X:123020162-123020162
GRCh38: X:123886312-123886312
8 XIAP NM_001167.4(XIAP):c.566T>C (p.Leu189Pro) SNV Pathogenic
624588 rs1569477871 GRCh37: X:123020078-123020078
GRCh38: X:123886228-123886228
9 XIAP GRCh37/hg19 Xq25(chrX:122970459-123034511) CN LOSS Pathogenic
625799 GRCh37: X:122970459-123034511
GRCh38:
10 XIAP NM_001167.4(XIAP):c.955C>T (p.Gln319Ter) SNV Pathogenic
640819 rs1602546782 GRCh37: X:123022546-123022546
GRCh38: X:123888696-123888696
11 XIAP NM_001167.4(XIAP):c.609dup (p.Gly204fs) DUP Pathogenic
804082 rs1602544507 GRCh37: X:123020120-123020121
GRCh38: X:123886270-123886271
12 XIAP NM_001167.4(XIAP):c.1458del (p.Val487fs) DEL Pathogenic
804083 rs1602562990 GRCh37: X:123040995-123040995
GRCh38: X:123907145-123907145
13 XIAP NC_000023.11:g.(?_123885637)_(123907201_?)del DEL Pathogenic
831298 GRCh37: X:123019487-123041051
GRCh38:
14 XIAP NM_001167.4(XIAP):c.225_226insA (p.Gly76fs) INSERT Pathogenic
936844 rs2053346343 GRCh37: X:123019737-123019738
GRCh38: X:123885887-123885888
15 XIAP NC_000023.10:g.(?_123010866)_123025086del DEL Pathogenic
1068873 GRCh37:
GRCh38:
16 XIAP NM_001167.4(XIAP):c.755dup (p.Asn252fs) DUP Pathogenic
1375770 GRCh37: X:123020264-123020265
GRCh38: X:123886414-123886415
17 XIAP NM_001167.4(XIAP):c.1315G>T (p.Glu439Ter) SNV Pathogenic
1418323 GRCh37: X:123040852-123040852
GRCh38: X:123907002-123907002
18 XIAP NM_001167.4(XIAP):c.1048G>T (p.Glu350Ter) SNV Pathogenic
1456269 GRCh37: X:123025158-123025158
GRCh38: X:123891308-123891308
19 XIAP NM_001167.4(XIAP):c.108del (p.Pro37fs) DEL Pathogenic
503904 rs1556404455 GRCh37: X:123019617-123019617
GRCh38: X:123885767-123885767
20 XIAP NM_001167.4(XIAP):c.421_422del (p.Leu141fs) DEL Pathogenic
855569 rs2053348573 GRCh37: X:123019931-123019932
GRCh38: X:123886081-123886082
21 XIAP NM_001167.4(XIAP):c.214_217dup (p.Trp73Ter) MICROSAT Pathogenic
859737 rs2053346219 GRCh37: X:123019720-123019721
GRCh38: X:123885870-123885871
22 XIAP NM_001167.4(XIAP):c.446dup (p.Ser150fs) DUP Pathogenic
957820 rs2053348979 GRCh37: X:123019957-123019958
GRCh38: X:123886107-123886108
23 XIAP NM_001167.4(XIAP):c.1012dup (p.Tyr338fs) DUP Pathogenic
1071347 GRCh37: X:123025121-123025122
GRCh38: X:123891271-123891272
24 XIAP NM_001167.4(XIAP):c.60del (p.Glu21fs) DEL Pathogenic
1073250 GRCh37: X:123019571-123019571
GRCh38: X:123885721-123885721
25 XIAP NM_001167.4(XIAP):c.921_924del (p.Thr308fs) DEL Pathogenic
1452964 GRCh37: X:123022510-123022513
GRCh38: X:123888660-123888663
26 XIAP NC_000023.11:g.(?_123885637)_(123892793_?)del DEL Pathogenic
584339 GRCh37: X:123019487-123026643
GRCh38: X:123885637-123892793
27 XIAP NM_001167.4(XIAP):c.389_392del (p.Asp130fs) DEL Pathogenic
533654 rs1556404575 GRCh37: X:123019899-123019902
GRCh38: X:123886049-123886052
28 XIAP NM_001167.4(XIAP):c.664C>T (p.Arg222Ter) SNV Pathogenic
533655 rs1556404684 GRCh37: X:123020176-123020176
GRCh38: X:123886326-123886326
29 XIAP NM_001167.4(XIAP):c.712C>T (p.Arg238Ter) SNV Pathogenic
568305 rs111978474 GRCh37: X:123020224-123020224
GRCh38: X:123886374-123886374
30 XIAP NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter) SNV Pathogenic
523420 rs1556408009 GRCh37: X:123034384-123034384
GRCh38: X:123900534-123900534
31 XIAP NC_000023.11:g.(?_123885637)_(123888738_?)del DEL Pathogenic
831093 GRCh37: X:123019487-123022588
GRCh38:
32 XIAP NM_001167.4(XIAP):c.978-2A>G SNV Pathogenic
1072889 GRCh37: X:123025086-123025086
GRCh38: X:123891236-123891236
33 XIAP NM_001167.4(XIAP):c.595C>T (p.Gln199Ter) SNV Pathogenic
978532 rs2053350325 GRCh37: X:123020107-123020107
GRCh38: X:123886257-123886257
34 XIAP NM_001167.4(XIAP):c.894_898del (p.Lys299fs) MICROSAT Pathogenic
1162913 GRCh37: X:123022479-123022483
GRCh38: X:123888629-123888633
35 XIAP NC_000023.11:g.(?_123891218)_(123892793_?)del DEL Pathogenic
583839 GRCh37: X:123025068-123026643
GRCh38: X:123891218-123892793
36 overlap with 5 genes NC_000023.10:g.(?_122318388)_(123505241_?)del DEL Pathogenic
1455382 GRCh37: X:122318388-123505241
GRCh38:
37 XIAP NM_001167.4(XIAP):c.1317_1318delinsAT (p.Gln440Ter) INDEL Likely Pathogenic
1487097 GRCh37: X:123040854-123040855
GRCh38: X:123907004-123907005
38 XIAP NM_001167.4(XIAP):c.1099+2T>C SNV Likely Pathogenic
1066189 GRCh37: X:123026625-123026625
GRCh38: X:123892775-123892775
39 XIAP NC_000023.11:g.(?_123888599)_(123888738_?)dup DUP Likely Pathogenic
833322 GRCh37: X:123022449-123022588
GRCh38:
40 XIAP NM_001167.4(XIAP):c.-32-5232_878-647del DEL Likely Pathogenic
1684656 GRCh37: X:123014249-123021822
GRCh38: X:123880399-123887972
41 XIAP NM_001167.4(XIAP):c.238_253del (p.Val80fs) DEL Likely Pathogenic
1325365 GRCh37: X:123019749-123019764
GRCh38: X:123885899-123885914
42 XIAP NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) MICROSAT Conflicting Interpretations Of Pathogenicity
225518 rs199683465 GRCh37: X:123025155-123025157
GRCh38: X:123891305-123891307
43 XIAP NM_001167.4(XIAP):c.840C>G (p.Asn280Lys) SNV Uncertain Significance
835445 rs2053353262 GRCh37: X:123020352-123020352
GRCh38: X:123886502-123886502
44 XIAP NM_001167.4(XIAP):c.838A>C (p.Asn280His) SNV Uncertain Significance
846617 rs758057572 GRCh37: X:123020350-123020350
GRCh38: X:123886500-123886500
45 XIAP NM_001167.4(XIAP):c.482A>G (p.Tyr161Cys) SNV Uncertain Significance
853520 rs2053349276 GRCh37: X:123019994-123019994
GRCh38: X:123886144-123886144
46 XIAP NM_001167.4(XIAP):c.562G>A (p.Gly188Arg) SNV Uncertain Significance
664245 rs1602544454 GRCh37: X:123020074-123020074
GRCh38: X:123886224-123886224
47 XIAP NM_001167.4(XIAP):c.716G>A (p.Ser239Asn) SNV Uncertain Significance
1347931 GRCh37: X:123020228-123020228
GRCh38: X:123886378-123886378
48 XIAP NM_001167.4(XIAP):c.1058T>C (p.Val353Ala) SNV Uncertain Significance
839413 rs148080493 GRCh37: X:123026582-123026582
GRCh38: X:123892732-123892732
49 XIAP NM_001167.4(XIAP):c.1327C>T (p.Arg443Cys) SNV Uncertain Significance
852724 rs1489246570 GRCh37: X:123040864-123040864
GRCh38: X:123907014-123907014
50 XIAP NM_001167.4(XIAP):c.919C>A (p.Leu307Ile) SNV Uncertain Significance
853239 rs1280883217 GRCh37: X:123022510-123022510
GRCh38: X:123888660-123888660

Expression for Lymphoproliferative Syndrome, X-Linked, 2

Search GEO for disease gene expression data for Lymphoproliferative Syndrome, X-Linked, 2.

Pathways for Lymphoproliferative Syndrome, X-Linked, 2

Pathways related to Lymphoproliferative Syndrome, X-Linked, 2 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 IL10RA ITK MAGT1 NLRC4 NOD1 NOD2
2 12.27 SH2D1A RIPK2 NOD1 ITK
3
Show member pathways
12.17 RIPK2 NOD2 NOD1 NLRC4
4
Show member pathways
11.85 RIPK2 NOD2 NOD1
5
Show member pathways
11.23 RIPK2 NOD2 NOD1 NLRC4
6
Show member pathways
11.17 RIPK2 NOD2 NOD1
7 10.92 RIPK2 NOD2 NOD1
8 10.86 RIPK2 NOD2
9 10.64 UNC13D RAB27A
10 10.63 XIAP RIPK2 NOD2 NOD1 NLRC4
11 10.48 UNC13D RAB27A

GO Terms for Lymphoproliferative Syndrome, X-Linked, 2

Cellular components related to Lymphoproliferative Syndrome, X-Linked, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phagocytic vesicle GO:0045335 9.43 SLAMF1 NOD2 NOD1
2 Weibel-Palade body GO:0033093 8.92 UNC13D RAB27A

Biological processes related to Lymphoproliferative Syndrome, X-Linked, 2 according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 10.38 NLRC4 NOD1 NOD2 RIPK2 SH2D1A SLAMF1
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.25 SLAMF1 RIPK2 NOD2 NOD1
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 10.21 RIPK2 NOD2 NOD1 NLRC4
4 I-kappaB kinase/NF-kappaB signaling GO:0007249 10.11 RIPK2 NOD2 NOD1
5 JNK cascade GO:0007254 10.1 NOD1 NOD2 RIPK2
6 regulation of apoptotic process GO:0042981 10.1 NLRC4 NOD1 NOD2 RIPK2 XIAP
7 phagocytosis GO:0006909 10.1 LYST NOD2 SLAMF1 UNC13D
8 ERK1 and ERK2 cascade GO:0070371 10.09 RIPK2 NOD2 NOD1
9 positive regulation of interleukin-1 beta production GO:0032731 10.06 RIPK2 NOD2 NOD1 NLRC4
10 positive regulation of protein ubiquitination GO:0031398 10.04 XIAP RIPK2 NOD2
11 exocytosis GO:0006887 10.04 UNC13D STXBP2 STX11 RAB27A
12 positive regulation of macrophage cytokine production GO:0060907 10 RIPK2 NOD2 NOD1
13 immune system process GO:0002376 9.98 ITK NLRC4 NOD1 NOD2 RIPK2 SH2D1A
14 regulation of mast cell degranulation GO:0043304 9.94 UNC13D STXBP2
15 nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070431 9.93 RIPK2 NOD2
16 natural killer cell degranulation GO:0043320 9.91 UNC13D RAB27A
17 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.9 NOD1 NOD2
18 cellular response to peptidoglycan GO:0071224 9.89 RIPK2 NOD2
19 toll-like receptor 2 signaling pathway GO:0034134 9.88 RIPK2 NOD2
20 positive regulation of regulated secretory pathway GO:1903307 9.88 UNC13D RAB27A
21 pattern recognition receptor signaling pathway GO:0002221 9.88 NOD2 NOD1 NLRC4
22 pigmentation GO:0043473 9.85 RAB27A LYST AP3B1
23 detection of bacterium GO:0016045 9.85 NOD2 NOD1 NLRC4
24 detection of biotic stimulus GO:0009595 9.84 NOD2 NOD1
25 positive regulation of stress-activated MAPK cascade GO:0032874 9.78 RIPK2 NOD2 NOD1
26 cellular response to muramyl dipeptide GO:0071225 9.73 NOD1 NOD2 RIPK2
27 stress-activated MAPK cascade GO:0051403 9.69 RIPK2 NOD2 NOD1
28 xenophagy GO:0098792 9.63 NOD1 NOD2 RIPK2
29 regulation of response to stimulus GO:0048583 9.5 NOD2 NOD1 NLRC4
30 positive regulation of xenophagy GO:1904417 9.43 RIPK2 NOD2 NOD1
31 positive regulation of JNK cascade GO:0046330 9.32 XIAP SLAMF1 RIPK2 NOD2 NOD1

Molecular functions related to Lymphoproliferative Syndrome, X-Linked, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 caspase binding GO:0089720 9.26 RIPK2 NLRC4
2 CARD domain binding GO:0050700 9.1 RIPK2 NOD2 NOD1

Sources for Lymphoproliferative Syndrome, X-Linked, 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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