XLP2
MCID: LYM114
MIFTS: 50

Lymphoproliferative Syndrome, X-Linked, 2 (XLP2)

Categories: Blood diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lymphoproliferative Syndrome, X-Linked, 2

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

Name: Lymphoproliferative Syndrome, X-Linked, 2 57 53 75 13 73
Xiap Deficiency 57 12 53 75
Xlp2 57 12 53 75
X-Linked Lymphoproliferative Syndrome 2 12 53 15
Lymphoproliferative Syndrome 2, X-Linked 29 6
Xiap-Related Lymphoproliferative Disease, X-Linked 53
Lymphoproliferative Syndrome, X-Linked, Type 2 40

Characteristics:

OMIM:

57
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

Inheritance:
x-linked recessive


HPO:

32
lymphoproliferative syndrome, x-linked, 2:
Onset and clinical course phenotypic variability
Inheritance x-linked inheritance


Classifications:



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)

MalaCards based summary : Lymphoproliferative Syndrome, X-Linked, 2, also known as xiap deficiency, is related to lymphoproliferative syndrome, x-linked, 1 and lymphoproliferative syndrome. An important gene associated with Lymphoproliferative Syndrome, X-Linked, 2 is XIAP (X-Linked Inhibitor Of Apoptosis), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and Deubiquitination. The drugs Krestin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include t cells, nk cells and skin, and related phenotypes are splenomegaly and fever

Disease Ontology : 12 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 : 75 Lymphoproliferative syndrome, X-linked, 2: 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

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Abdomen Liver:
hepatomegaly

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

Respiratory:
recurrent respiratory infections

Skin Nails Hair Skin:
acne
erythema nodosum
folliculitis
skin infections

Abdomen Gastrointestinal:
colitis
inflammatory bowel disease


Clinical features from OMIM:

300635

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 very rare (1%) HP:0001744
2 fever 32 very rare (1%) HP:0001945
3 hypertriglyceridemia 32 very rare (1%) HP:0002155
4 immunodeficiency 32 HP:0002721
5 hepatitis 32 very rare (1%) HP:0012115
6 aplastic anemia 32 very rare (1%) HP:0001915
7 acne 32 HP:0001061
8 decreased antibody level in blood 32 HP:0004313
9 recurrent infections 32 HP:0002719
10 recurrent skin infections 32 HP:0001581
11 increased serum ferritin 32 very rare (1%) HP:0003281
12 erythema nodosum 32 HP:0012219
13 colitis 32 HP:0002583
14 hemophagocytosis 32 very rare (1%) HP:0012156
15 hypofibrinogenemia 32 very rare (1%) HP:0011900
16 folliculitis 32 HP:0025084

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.53 NOD1 NOD2 RIPK2 XIAP
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 NOD1 NOD2 RIPK2 XIAP

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 NOD1 NOD2 RIPK2 SH2D1A STXBP2 XIAP
2 immune system MP:0005387 9.1 NOD1 NOD2 RIPK2 SH2D1A STXBP2 XIAP

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 Krestin Phase 3
2 Pharmaceutical Solutions Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency as Open Label Extension Recruiting NCT03512314 Phase 3 Tadekinig alfa
2 Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency Recruiting NCT03113760 Phase 3 Tadekinig alfa
3 Study of Gut Microbiota in Primary Immune Deficiency, Possibly Associated With Inflammatory Bowel Disease Completed NCT02909244

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 Lymphoproliferative Syndrome 2, X-Linked 29 XIAP

Anatomical Context for Lymphoproliferative Syndrome, X-Linked, 2

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

41
T Cells, Nk Cells, Skin, B Cells, Monocytes, Testes

Publications for Lymphoproliferative Syndrome, X-Linked, 2

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

(show all 27)
# Title Authors Year
1
Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease. ( 29894681 )
2018
2
Monozygotic Twin Cases of XIAP Deficiency Syndrome. ( 28141680 )
2018
3
How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease. ( 27416006 )
2017
4
Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan. ( 27815752 )
2017
5
XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome. ( 27681353 )
2016
6
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. ( 26953272 )
2016
7
Successful Allogeneic Hematopoietic Stem Cell Transplantation in XIAP Deficiency Using Reduced-Intensity Conditioning. ( 26398727 )
2016
8
Intact Regulatory T-Cell Function but Defective Generation of IL-17A-Producing CD4+ T Cells in XIAP Deficiency. ( 26825770 )
2016
9
XIAP deficiency syndrome in humans. ( 25666262 )
2015
10
Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency. ( 25943627 )
2015
11
The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency. ( 26671016 )
2015
12
Complications of Reduced Intensity Conditioning HSCT for XIAP Deficiency (Alloimmune Cytopenias and HLH) Successfully Managed With Donor Lymphocyte Infusion. ( 24942029 )
2015
13
Successful treatment of idiopathic colitis related to XIAP deficiency with allo-HSCT using reduced-intensity conditioning. ( 25412586 )
2015
14
Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency. ( 24084330 )
2014
15
XIAP deficiency is a mendelian cause of late-onset IBD. ( 24326742 )
2014
16
A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency. ( 24611904 )
2014
17
Successful stem cell transplant with antibody-based conditioning for XIAP deficiency with refractory hemophagocytic lymphohistiocytosis. ( 23766462 )
2013
18
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. ( 23973892 )
2013
19
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. ( 23131490 )
2013
20
SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis. ( 22672194 )
2012
21
Clinical and genetic characteristics of XIAP deficiency in Japan. ( 22228567 )
2012
22
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
23
XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. ( 20489057 )
2010
24
Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency. ( 20816973 )
2010
25
A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency. ( 19288545 )
2009
26
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. ( 17080092 )
2006
27
XIAP-deficiency leads to delayed lobuloalveolar development in the mammary gland. ( 15540113 )
2005

Variations for Lymphoproliferative Syndrome, X-Linked, 2

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

6 (show all 49)
# Gene Variation Type Significance SNP ID Assembly Location
1 XIAP NM_001167.3(XIAP): c.292delC (p.Glu99Lysfs) deletion Pathogenic GRCh37 Chromosome X, 123019804: 123019804
2 XIAP NM_001167.3(XIAP): c.292delC (p.Glu99Lysfs) deletion Pathogenic GRCh38 Chromosome X, 123885954: 123885954
3 XIAP NM_001167.3(XIAP): c.352G> T (p.Glu118Ter) single nucleotide variant Pathogenic rs104894764 GRCh37 Chromosome X, 123019864: 123019864
4 XIAP NM_001167.3(XIAP): c.352G> T (p.Glu118Ter) single nucleotide variant Pathogenic rs104894764 GRCh38 Chromosome X, 123886014: 123886014
5 XIAP XIAP, 2606-BP DEL deletion Pathogenic
6 XIAP NM_001167.3(XIAP): c.608G> A (p.Cys203Tyr) single nucleotide variant Pathogenic rs387907301 GRCh37 Chromosome X, 123020120: 123020120
7 XIAP NM_001167.3(XIAP): c.608G> A (p.Cys203Tyr) single nucleotide variant Pathogenic rs387907301 GRCh38 Chromosome X, 123886270: 123886270
8 XIAP NM_001167.3(XIAP): c.1048_1050delGAG (p.Glu350del) deletion Uncertain significance rs1085307106 GRCh37 Chromosome X, 123025158: 123025160
9 XIAP NM_001167.3(XIAP): c.1048_1050delGAG (p.Glu350del) deletion Uncertain significance rs1085307106 GRCh38 Chromosome X, 123891308: 123891310
10 XIAP NM_001167.3(XIAP): c.1268A> C (p.Gln423Pro) single nucleotide variant Benign rs5956583 GRCh37 Chromosome X, 123034511: 123034511
11 XIAP NM_001167.3(XIAP): c.1268A> C (p.Gln423Pro) single nucleotide variant Benign rs5956583 GRCh38 Chromosome X, 123900661: 123900661
12 XIAP NM_001167.3(XIAP): c.844G> A (p.Glu282Lys) single nucleotide variant Uncertain significance rs777303823 GRCh37 Chromosome X, 123020356: 123020356
13 XIAP NM_001167.3(XIAP): c.844G> A (p.Glu282Lys) single nucleotide variant Uncertain significance rs777303823 GRCh38 Chromosome X, 123886506: 123886506
14 XIAP NM_001167.3(XIAP): c.1021_1022delAA (p.Asn341Tyrfs) deletion Pathogenic GRCh37 Chromosome X, 123025131: 123025132
15 XIAP NM_001167.3(XIAP): c.1021_1022delAA (p.Asn341Tyrfs) deletion Pathogenic GRCh38 Chromosome X, 123891281: 123891282
16 XIAP NM_001167.3(XIAP): c.651delG (p.Trp217Cysfs) deletion Pathogenic GRCh37 Chromosome X, 123020163: 123020163
17 XIAP NM_001167.3(XIAP): c.651delG (p.Trp217Cysfs) deletion Pathogenic GRCh38 Chromosome X, 123886313: 123886313
18 XIAP NM_001167.3(XIAP): c.672dup (p.Pro225Serfs) duplication Pathogenic GRCh38 Chromosome X, 123886334: 123886334
19 XIAP NM_001167.3(XIAP): c.672dup (p.Pro225Serfs) duplication Pathogenic GRCh37 Chromosome X, 123020184: 123020184
20 XIAP NM_001167.3(XIAP): c.171A> G (p.Glu57=) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 123885833: 123885833
21 XIAP NM_001167.3(XIAP): c.171A> G (p.Glu57=) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 123019683: 123019683
22 XIAP NM_001167.3(XIAP): c.769C> G (p.Pro257Ala) single nucleotide variant Benign rs138783302 GRCh37 Chromosome X, 123020281: 123020281
23 XIAP NM_001167.3(XIAP): c.769C> G (p.Pro257Ala) single nucleotide variant Benign rs138783302 GRCh38 Chromosome X, 123886431: 123886431
24 XIAP NM_001167.3(XIAP): c.878-5C> T single nucleotide variant Benign rs367801081 GRCh38 Chromosome X, 123888614: 123888614
25 XIAP NM_001167.3(XIAP): c.878-5C> T single nucleotide variant Benign rs367801081 GRCh37 Chromosome X, 123022464: 123022464
26 XIAP NM_001167.3(XIAP): c.108delT (p.Pro37Glnfs) deletion Pathogenic GRCh37 Chromosome X, 123019620: 123019620
27 XIAP NM_001167.3(XIAP): c.108delT (p.Pro37Glnfs) deletion Pathogenic GRCh38 Chromosome X, 123885770: 123885770
28 XIAP NM_001167.3(XIAP): c.276T> C (p.Phe92=) single nucleotide variant Benign rs45575532 GRCh38 Chromosome X, 123885938: 123885938
29 XIAP NM_001167.3(XIAP): c.276T> C (p.Phe92=) single nucleotide variant Benign rs45575532 GRCh37 Chromosome X, 123019788: 123019788
30 XIAP NM_001167.3(XIAP): c.455C> G (p.Thr152Ser) single nucleotide variant Benign rs150317928 GRCh37 Chromosome X, 123019967: 123019967
31 XIAP NM_001167.3(XIAP): c.455C> G (p.Thr152Ser) single nucleotide variant Benign rs150317928 GRCh38 Chromosome X, 123886117: 123886117
32 XIAP NM_001167.3(XIAP): c.688G> A (p.Val230Ile) single nucleotide variant Likely benign rs144884904 GRCh37 Chromosome X, 123020200: 123020200
33 XIAP NM_001167.3(XIAP): c.688G> A (p.Val230Ile) single nucleotide variant Likely benign rs144884904 GRCh38 Chromosome X, 123886350: 123886350
34 XIAP NM_001167.3(XIAP): c.389_392delACAG (p.Asp130Glyfs) deletion Pathogenic GRCh37 Chromosome X, 123019901: 123019904
35 XIAP NM_001167.3(XIAP): c.389_392delACAG (p.Asp130Glyfs) deletion Pathogenic GRCh38 Chromosome X, 123886051: 123886054
36 XIAP NM_001167.3(XIAP): c.435G> T (p.Gln145His) single nucleotide variant Uncertain significance rs759909620 GRCh37 Chromosome X, 123019947: 123019947
37 XIAP NM_001167.3(XIAP): c.435G> T (p.Gln145His) single nucleotide variant Uncertain significance rs759909620 GRCh38 Chromosome X, 123886097: 123886097
38 XIAP NM_001167.3(XIAP): c.73G> C (p.Glu25Gln) single nucleotide variant Likely benign rs781204574 GRCh38 Chromosome X, 123885735: 123885735
39 XIAP NM_001167.3(XIAP): c.73G> C (p.Glu25Gln) single nucleotide variant Likely benign rs781204574 GRCh37 Chromosome X, 123019585: 123019585
40 XIAP NM_001167.3(XIAP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 123020176: 123020176
41 XIAP NM_001167.3(XIAP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 123886326: 123886326
42 XIAP NM_001167.3(XIAP): c.712C> T (p.Arg238Ter) single nucleotide variant Pathogenic rs111978474 GRCh38 Chromosome X, 123886374: 123886374
43 XIAP NM_001167.3(XIAP): c.712C> T (p.Arg238Ter) single nucleotide variant Pathogenic rs111978474 GRCh37 Chromosome X, 123020224: 123020224
44 XIAP NC_000023.11: g.(?_123891218)_(123892793_?)del deletion Pathogenic GRCh38 Chromosome X, 123891218: 123892793
45 XIAP NC_000023.11: g.(?_123891218)_(123892793_?)del deletion Pathogenic GRCh37 Chromosome X, 123025068: 123026643
46 XIAP NC_000023.11: g.(?_123885637)_(123892793_?)del deletion Pathogenic GRCh38 Chromosome X, 123885637: 123892793
47 XIAP NC_000023.11: g.(?_123885637)_(123892793_?)del deletion Pathogenic GRCh37 Chromosome X, 123019487: 123026643
48 XIAP NM_001167.3(XIAP): c.683T> G (p.Phe228Cys) single nucleotide variant Uncertain significance rs140973844 GRCh38 Chromosome X, 123886345: 123886345
49 XIAP NM_001167.3(XIAP): c.683T> G (p.Phe228Cys) single nucleotide variant Uncertain significance rs140973844 GRCh37 Chromosome X, 123020195: 123020195

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
12.52 NOD1 NOD2 RIPK2 XIAP
2
Show member pathways
12.39 NOD1 NOD2 RIPK2
3 12.17 NOD1 RIPK2 SH2D1A
4
Show member pathways
12.04 NOD1 NOD2 RIPK2
5
Show member pathways
11.89 NOD1 NOD2 RIPK2
6 11.76 NOD1 RIPK2 XIAP
7
Show member pathways
11.49 NOD1 NOD2 RIPK2
8 11.14 NOD1 NOD2 RIPK2
9 10.79 NOD2 RIPK2
10 10.7 NOD1 NOD2 RIPK2
11 10.54 NOD1 NOD2 RIPK2 XIAP

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 cytosol GO:0005829 9.1 NOD1 NOD2 RIPK2 SH2D1A STXBP2 XIAP

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.88 NOD1 NOD2 RIPK2 SH2D1A
2 innate immune response GO:0045087 9.87 NOD1 NOD2 RIPK2 SH2D1A
3 apoptotic process GO:0006915 9.82 NOD1 RIPK2 XIAP
4 regulation of apoptotic process GO:0042981 9.79 NOD1 NOD2 RIPK2
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.77 NOD1 NOD2 RIPK2
6 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.77 NOD1 NOD2 RIPK2
7 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.75 NOD1 NOD2 RIPK2
8 activation of MAPK activity GO:0000187 9.72 NOD1 NOD2 RIPK2
9 defense response to Gram-positive bacterium GO:0050830 9.64 NOD1 RIPK2
10 protein complex oligomerization GO:0051259 9.64 NOD1 NOD2
11 regulation of inflammatory response GO:0050727 9.63 NOD2 XIAP
12 positive regulation of protein ubiquitination GO:0031398 9.63 RIPK2 XIAP
13 positive regulation of JNK cascade GO:0046330 9.63 NOD1 NOD2 RIPK2
14 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.62 NOD1 NOD2
15 positive regulation of cell death GO:0010942 9.62 NOD1 RIPK2
16 positive regulation of interleukin-1 beta secretion GO:0050718 9.61 NOD2 RIPK2
17 positive regulation of interleukin-6 production GO:0032755 9.61 NOD1 NOD2 RIPK2
18 positive regulation of interleukin-1 beta production GO:0032731 9.56 NOD1 NOD2
19 detection of bacterium GO:0016045 9.54 NOD1 NOD2
20 positive regulation of tumor necrosis factor production GO:0032760 9.54 NOD1 NOD2 RIPK2
21 nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070431 9.52 NOD2 RIPK2
22 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.51 NOD1 NOD2
23 JNK cascade GO:0007254 9.5 NOD1 NOD2 RIPK2
24 cellular response to peptidoglycan GO:0071224 9.49 NOD2 RIPK2
25 positive regulation of xenophagy GO:1904417 9.48 NOD1 RIPK2
26 interleukin-1-mediated signaling pathway GO:0070498 9.43 NOD1 NOD2 RIPK2
27 detection of biotic stimulus GO:0009595 9.4 NOD1 NOD2
28 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.33 NOD1 NOD2 RIPK2
29 positive regulation of stress-activated MAPK cascade GO:0032874 9.13 NOD1 NOD2 RIPK2
30 cellular response to muramyl dipeptide GO:0071225 8.8 NOD1 NOD2 RIPK2

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

# Name GO ID Score Top Affiliating Genes
1 peptidoglycan binding GO:0042834 8.96 NOD1 NOD2
2 CARD domain binding GO:0050700 8.8 NOD1 NOD2 RIPK2

Sources for Lymphoproliferative Syndrome, X-Linked, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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