XLP2
MCID: LYM114
MIFTS: 50

Lymphoproliferative Syndrome, X-Linked, 2 (XLP2)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare 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 20 73 13 71
Xlp2 57 12 20 58 73
Xiap Deficiency 57 12 20 73
X-Linked Lymphoproliferative Syndrome 2 12 20 15
Lymphoproliferative Syndrome 2, X-Linked 29 6
X-Linked Lymphoproliferative Disease Due to Xiap Deficiency 58
Xiap-Related Lymphoproliferative Disease, X-Linked 20
Lymphoproliferative Syndrome, X-Linked, Type 2 39
X-Linked Lymphoproliferative Syndrome Type 2 58
Xiap Deficiency Syndrome 58

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
lymphoproliferative syndrome, x-linked, 2:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060706
OMIM® 57 300635
OMIM Phenotypic Series 57 PS308240
MeSH 44 D008232
ICD10 32 D82.3
Orphanet 58 ORPHA538934
MedGen 41 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 05-Mar-2021)

MalaCards based summary : Lymphoproliferative Syndrome, X-Linked, 2, also known as xlp2, is related to dysgammaglobulinemia 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 NF-kappaB Signaling and Apoptosis and Autophagy. The drugs Pharmaceutical Solutions and polysaccharide-K have been mentioned in the context of this disorder. Affiliated tissues include t cells, nk cells and monocytes, 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 : 73 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

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 62)
# Related Disease Score Top Affiliating Genes
1 dysgammaglobulinemia 30.0 XIAP STXBP2 SLAMF1 SH2D1A
2 lymphoproliferative syndrome 29.5 XIAP UNC13D SLAMF1 SH2D1A PRF1 ITK
3 macrophage activation syndrome 29.4 UNC13D RAB27A PRF1
4 pfeiffer syndrome 29.3 SLAMF1 SH2D1A PRF1
5 lymphoproliferative syndrome, x-linked, 1 29.3 XIAP UNC13D STXBP2 STX11 SLAMF1 SH2D1A
6 lymphoproliferative syndrome 2 29.1 XIAP STXBP2 STX11 SLAMF1 SH2D1A LYST
7 hemophagocytic lymphohistiocytosis, familial, 1 28.6 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
8 hemophagocytic lymphohistiocytosis 28.3 XIAP UNC13D STXBP2 STX11 SH2D1A RAB27A
9 splenomegaly 10.3
10 hemophagocytic lymphohistiocytosis, familial, 5 10.2 UNC13D STXBP2 STX11
11 inflammatory bowel disease 10.1
12 radial nerve lesion 10.1 RIPK2 NOD2
13 hermansky-pudlak syndrome 2 10.1 LYST AP3B1
14 trichohepatoenteric syndrome 1 10.1 UNC13D TTC7A STXBP2
15 hemophagocytic lymphohistiocytosis, familial, 3 10.1 UNC13D STX11 RAB27A
16 ulnar nerve lesion 10.1 RIPK2 NOD2
17 gastrointestinal defects and immunodeficiency syndrome 10.0 XIAP TTC7A IL10RA
18 immune deficiency disease 10.0
19 graft-versus-host disease 10.0
20 lymphoma 10.0
21 crohn's disease 10.0
22 common variable immunodeficiency 10.0 XIAP TTC7A SH2D1A NOD2
23 acute hemorrhagic encephalitis 10.0 XIAP UNC13D STXBP2 STX11 SH2D1A
24 congenital diarrhea 9.9 TTC7A STXBP2
25 blau syndrome 9.9 RIPK2 NOD2 NOD1
26 inflammatory bowel disease 1 9.9 RIPK2 NOD2 NOD1
27 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 9.9 SH2D1A ITK
28 leprosy 3 9.9 RIPK2 NOD2 NOD1
29 selective immunoglobulin deficiency disease 9.9 XIAP UNC13D STXBP2 SLAMF1 SH2D1A
30 enterocolitis 9.8
31 familial mediterranean fever 9.8
32 niemann-pick disease, type c1 9.8
33 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
34 exanthema subitum 9.8
35 colitis 9.8
36 ileitis 9.8
37 crohn's colitis 9.8
38 hepatic veno-occlusive disease 9.8
39 erythema nodosum 9.8
40 brucellosis 9.8
41 neutropenia 9.8
42 uveitis 9.8
43 niemann-pick disease 9.8
44 agammaglobulinemia 9.8
45 histiocytosis 9.8
46 juvenile rheumatoid arthritis 9.8
47 arthritis 9.8
48 duodenitis 9.8
49 acute graft versus host disease 9.8
50 systemic onset juvenile idiopathic arthritis 9.8 RAB27A PRF1

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:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 very rare (1%) HP:0001744
2 fever 31 very rare (1%) HP:0001945
3 hypertriglyceridemia 31 very rare (1%) HP:0002155
4 hepatitis 31 very rare (1%) HP:0012115
5 hemophagocytosis 31 very rare (1%) HP:0012156
6 aplastic anemia 31 very rare (1%) HP:0001915
7 hypofibrinogenemia 31 very rare (1%) HP:0011900
8 increased circulating ferritin concentration 31 very rare (1%) HP:0003281
9 hepatomegaly 31 HP:0002240
10 recurrent respiratory infections 31 HP:0002205
11 immunodeficiency 31 HP:0002721
12 acne 31 HP:0001061
13 recurrent fever 31 HP:0001954
14 recurrent skin infections 31 HP:0001581
15 colitis 31 HP:0002583
16 erythema nodosum 31 HP:0012219
17 folliculitis 31 HP:0025084
18 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.09 AP3B1 BIRC2 IL10RA ITK LYST NOD1
2 cellular MP:0005384 10 AP3B1 BIRC2 IL10RA ITK LYST NOD2
3 homeostasis/metabolism MP:0005376 9.73 AP3B1 BIRC2 IL10RA LYST NOD2 PRF1
4 immune system MP:0005387 9.55 AP3B1 BIRC2 IL10RA ITK LYST NOD1

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 Pharmaceutical Solutions Phase 3
2 polysaccharide-K Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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

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:

40
T Cells, Nk Cells, Monocytes, B Cells

Publications for Lymphoproliferative Syndrome, X-Linked, 2

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

(show all 20)
# Title Authors PMID Year
1
Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency. 6 57 61
25943627 2015
2
Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation. 6 57
26182687 2015
3
Clinical and genetic characteristics of XIAP deficiency in Japan. 57 6
22228567 2012
4
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. 57 6
21173700 2011
5
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. 6 57
17080092 2006
6
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. 57 61
25744037 2015
7
XIAP deficiency syndrome in humans. 57
25666262 2015
8
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). 57
21119115 2011
9
A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly. 57
20015872 2010
10
Haploidentical Hematopoietic Stem Cell Transplantation for XIAP Deficiency: a Single-Center Report. 61
32627096 2020
11
X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic. 61
31754776 2020
12
Successful allogeneic hematopoietic stem cell transplantation in a boy with X-linked inhibitor of apoptosis deficiency presenting with hemophagocytic lymphohistiocytosis: A case report. 61
27602064 2016
13
A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report. 61
26581487 2015
14
XIAP variants in male Crohn's disease. 61
24572142 2015
15
Inhibitors of apoptosis (IAPs) regulate intestinal immunity and inflammatory bowel disease (IBD) inflammation. 61
25282548 2014
16
Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations. 61
24616127 2014
17
Clinical Flow Cytometric Screening of SAP and XIAP Expression Accurately Identifies Patients with SH2D1A and XIAP/BIRC4 Mutations. 61
26305518 2014
18
Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling. 61
23818254 2013
19
X-linked lymphoproliferative syndromes: brothers or distant cousins? 61
20660790 2010
20
Lymphoproliferative Disease, X-Linked 61
20301580 2004

Variations for Lymphoproliferative Syndrome, X-Linked, 2

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

6 (show top 50) (show all 158)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 XIAP NM_001167.3(XIAP):c.292del (p.Glu99fs) Deletion Pathogenic 11645 rs1556404534 X:123019804-123019804 X:123885954-123885954
2 XIAP NM_001167.3(XIAP):c.352G>T (p.Glu118Ter) SNV Pathogenic 11646 rs104894764 X:123019864-123019864 X:123886014-123886014
3 XIAP XIAP, 2606-BP DEL Deletion Pathogenic 11647
4 XIAP NM_001167.3(XIAP):c.608G>A (p.Cys203Tyr) SNV Pathogenic 37244 rs387907301 X:123020120-123020120 X:123886270-123886270
5 XIAP NM_001167.3(XIAP):c.1021_1022del (p.Asn341fs) Deletion Pathogenic 446508 rs1556406033 X:123025131-123025132 X:123891281-123891282
6 XIAP NM_001167.3(XIAP):c.651del (p.Trp217fs) Deletion Pathogenic 446509 rs1556404673 X:123020162-123020162 X:123886312-123886312
7 XIAP NM_001167.3(XIAP):c.664C>T (p.Arg222Ter) SNV Pathogenic 533655 rs1556404684 X:123020176-123020176 X:123886326-123886326
8 XIAP NM_001167.3(XIAP):c.566T>C (p.Leu189Pro) SNV Pathogenic 624588 rs1569477871 X:123020078-123020078 X:123886228-123886228
9 XIAP NC_000023.11:g.(?_123885637)_(123888738_?)del Deletion Pathogenic 831093 X:123019487-123022588
10 XIAP NC_000023.11:g.(?_123885637)_(123907201_?)del Deletion Pathogenic 831298 X:123019487-123041051
11 XIAP NM_001167.4(XIAP):c.421_422del (p.Leu141fs) Deletion Pathogenic 855569 X:123019931-123019932 X:123886081-123886082
12 XIAP NM_001167.3(XIAP):c.1458del (p.Val487fs) Deletion Pathogenic 804083 rs1602562990 X:123040995-123040995 X:123907145-123907145
13 XIAP NM_001167.3(XIAP):c.712C>T (p.Arg238Ter) SNV Pathogenic 568305 rs111978474 X:123020224-123020224 X:123886374-123886374
14 XIAP NM_001167.3(XIAP):c.108del (p.Pro37fs) Deletion Pathogenic 503904 rs1556404455 X:123019617-123019617 X:123885767-123885767
15 XIAP NM_001167.3(XIAP):c.672dup (p.Pro225fs) Duplication Pathogenic 446510 rs1556404697 X:123020181-123020182 X:123886331-123886332
16 XIAP NM_001167.3(XIAP):c.609dup (p.Gly204fs) Duplication Pathogenic 804082 rs1602544507 X:123020120-123020121 X:123886270-123886271
17 XIAP NM_001167.4(XIAP):c.210_213AGAT[3] (p.Trp73Ter) Microsatellite Pathogenic 859737 X:123019720-123019721 X:123885870-123885871
18 XIAP NM_001167.4(XIAP):c.225_226insA (p.Gly76fs) Insertion Pathogenic 936844 X:123019737-123019738 X:123885887-123885888
19 XIAP NM_001167.4(XIAP):c.446dup (p.Ser150fs) Duplication Pathogenic 957820 X:123019957-123019958 X:123886107-123886108
20 XIAP NM_001167.3(XIAP):c.955C>T (p.Gln319Ter) SNV Pathogenic 640819 rs1602546782 X:123022546-123022546 X:123888696-123888696
21 XIAP NM_001167.3(XIAP):c.595C>T (p.Gln199Ter) SNV Pathogenic 978532 X:123020107-123020107 X:123886257-123886257
22 XIAP NM_001167.3(XIAP):c.389_392del (p.Asp130fs) Deletion Pathogenic 533654 rs1556404575 X:123019899-123019902 X:123886049-123886052
23 XIAP NM_001167.3(XIAP):c.1141C>T (p.Arg381Ter) SNV Pathogenic 523420 rs1556408009 X:123034384-123034384 X:123900534-123900534
24 XIAP NC_000023.11:g.(?_123891218)_(123892793_?)del Deletion Pathogenic 583839 X:123025068-123026643 X:123891218-123892793
25 XIAP NC_000023.11:g.(?_123885637)_(123892793_?)del Deletion Pathogenic 584339 X:123019487-123026643 X:123885637-123892793
26 XIAP GRCh37/hg19 Xq25(chrX:122970459-123034511) copy number loss Pathogenic 625799 X:122970459-123034511
27 XIAP NC_000023.11:g.(?_123888599)_(123888738_?)dup Duplication Likely pathogenic 833322 X:123022449-123022588
28 XIAP NM_001167.4(XIAP):c.1045_1047GAG[1] (p.Glu350del) Microsatellite Conflicting interpretations of pathogenicity 225518 rs199683465 X:123025155-123025157 X:123891305-123891307
29 XIAP NM_001167.3(XIAP):c.*2521A>G SNV Uncertain significance 367811 rs746553843 X:123043552-123043552 X:123909702-123909702
30 XIAP NM_001167.3(XIAP):c.*3201A>G SNV Uncertain significance 367820 rs1057515752 X:123044232-123044232 X:123910382-123910382
31 XIAP NM_001167.4(XIAP):c.844G>C (p.Glu282Gln) SNV Uncertain significance 856103 X:123020356-123020356 X:123886506-123886506
32 XIAP NM_001167.4(XIAP):c.1154G>A (p.Ser385Asn) SNV Uncertain significance 859597 X:123034397-123034397 X:123900547-123900547
33 XIAP NM_001167.4(XIAP):c.632A>G (p.Glu211Gly) SNV Uncertain significance 860876 X:123020144-123020144 X:123886294-123886294
34 XIAP NM_001167.4(XIAP):c.416A>G (p.Tyr139Cys) SNV Uncertain significance 864155 X:123019928-123019928 X:123886078-123886078
35 XIAP NM_001167.4(XIAP):c.840C>G (p.Asn280Lys) SNV Uncertain significance 835445 X:123020352-123020352 X:123886502-123886502
36 XIAP NM_001167.4(XIAP):c.1058T>C (p.Val353Ala) SNV Uncertain significance 839413 X:123026582-123026582 X:123892732-123892732
37 XIAP NM_001167.4(XIAP):c.838A>C (p.Asn280His) SNV Uncertain significance 846617 X:123020350-123020350 X:123886500-123886500
38 XIAP NM_001167.4(XIAP):c.1048G>A (p.Glu350Lys) SNV Uncertain significance 850105 X:123025158-123025158 X:123891308-123891308
39 XIAP NM_001167.4(XIAP):c.1327C>T (p.Arg443Cys) SNV Uncertain significance 852724 X:123040864-123040864 X:123907014-123907014
40 XIAP NM_001167.4(XIAP):c.919C>A (p.Leu307Ile) SNV Uncertain significance 853239 X:123022510-123022510 X:123888660-123888660
41 XIAP NM_001167.4(XIAP):c.482A>G (p.Tyr161Cys) SNV Uncertain significance 853520 X:123019994-123019994 X:123886144-123886144
42 XIAP NC_000023.11:g.(?_123885637)_(123907201_?)dup Duplication Uncertain significance 830411 X:123019487-123041051
43 XIAP NC_000023.11:g.(?_123885637)_(123886559_?)dup Duplication Uncertain significance 831026 X:123019487-123020409
44 XIAP NM_001167.3(XIAP):c.435G>T (p.Gln145His) SNV Uncertain significance 533656 rs759909620 X:123019947-123019947 X:123886097-123886097
45 XIAP NM_001167.3(XIAP):c.683T>G (p.Phe228Cys) SNV Uncertain significance 571391 rs140973844 X:123020195-123020195 X:123886345-123886345
46 XIAP NM_001167.3(XIAP):c.171A>G (p.Glu57=) SNV Uncertain significance 465072 rs1556404487 X:123019683-123019683 X:123885833-123885833
47 XIAP NM_001167.3(XIAP):c.*3573G>A SNV Uncertain significance 367823 rs1037858715 X:123044604-123044604 X:123910754-123910754
48 XIAP NM_001167.3(XIAP):c.*6221G>A SNV Uncertain significance 367860 rs757596272 X:123047252-123047252 X:123913402-123913402
49 XIAP NM_001167.3(XIAP):c.*6211C>T SNV Uncertain significance 367857 rs1022688672 X:123047242-123047242 X:123913392-123913392
50 XIAP NM_001167.3(XIAP):c.*3205T>C SNV Uncertain significance 367821 rs777738703 X:123044236-123044236 X:123910386-123910386

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 12.31 SH2D1A RIPK2 NOD1 ITK
2 11.97 XIAP RIPK2 NOD1 BIRC2
3
Show member pathways
11.88 XIAP RIPK2 PRF1 BIRC2
4
Show member pathways
11.62 RIPK2 NOD2 NOD1 BIRC2
5 11.61 XIAP RIPK2 NOD2 NOD1 BIRC2
6
Show member pathways
11.53 XIAP PRF1 BIRC2
7 11.11 RIPK2 NOD2 NOD1
8 10.69 RIPK2 NOD2 BIRC2
9 10.68 UNC13D RAB27A
10 10.54 UNC13D RAB27A
11 10.54 XIAP RIPK2 NOD2 NOD1

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 9.44 XIAP UNC13D STXBP2 SH2D1A RIPK2 RAB27A
2 exocytic vesicle GO:0070382 9.26 UNC13D RAB27A
3 Weibel-Palade body GO:0033093 9.16 UNC13D RAB27A
4 cytolytic granule GO:0044194 8.96 STXBP2 PRF1

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

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10.08 SLAMF1 SH2D1A RIPK2 NOD2 NOD1 ITK
2 apoptotic process GO:0006915 10.07 XIAP RIPK2 PRF1 NOD1 BIRC2
3 innate immune response GO:0045087 10.06 SLAMF1 SH2D1A RIPK2 NOD2 NOD1
4 vesicle-mediated transport GO:0016192 9.96 STXBP2 STX11 RAB27A AP3B1
5 regulation of apoptotic process GO:0042981 9.93 RIPK2 NOD2 NOD1 BIRC2
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.91 SLAMF1 RIPK2 NOD2 NOD1
7 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.86 RIPK2 NOD2 NOD1 BIRC2
8 activation of MAPK activity GO:0000187 9.85 RIPK2 NOD2 NOD1
9 defense response to Gram-positive bacterium GO:0050830 9.84 RIPK2 NOD2 NOD1
10 interleukin-1-mediated signaling pathway GO:0070498 9.83 RIPK2 NOD2 NOD1
11 regulation of inflammatory response GO:0050727 9.83 XIAP NOD2 BIRC2
12 positive regulation of interleukin-6 production GO:0032755 9.82 RIPK2 NOD2 NOD1
13 positive regulation of tumor necrosis factor production GO:0032760 9.81 RIPK2 NOD2 NOD1
14 phagocytosis GO:0006909 9.8 UNC13D SLAMF1 LYST
15 positive regulation of interleukin-1 beta production GO:0032731 9.74 RIPK2 NOD2 NOD1
16 JNK cascade GO:0007254 9.72 RIPK2 NOD2 NOD1
17 cellular defense response GO:0006968 9.71 SH2D1A PRF1 ITK
18 exocytosis GO:0006887 9.71 UNC13D STXBP2 STX11 RAB27A
19 positive regulation of exocytosis GO:0045921 9.68 UNC13D RAB27A
20 melanosome organization GO:0032438 9.68 LYST AP3B1
21 regulation of innate immune response GO:0045088 9.68 XIAP BIRC2
22 negative regulation of interleukin-12 production GO:0032695 9.67 SLAMF1 NOD2
23 detection of bacterium GO:0016045 9.64 NOD2 NOD1
24 regulation of mast cell degranulation GO:0043304 9.63 UNC13D STXBP2
25 pigmentation GO:0043473 9.63 RAB27A LYST AP3B1
26 nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070431 9.62 RIPK2 NOD2
27 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.6 NOD2 NOD1
28 inhibition of cysteine-type endopeptidase activity involved in apoptotic process GO:1990001 9.59 XIAP BIRC2
29 cellular response to peptidoglycan GO:0071224 9.58 RIPK2 NOD2
30 natural killer cell degranulation GO:0043320 9.58 UNC13D RAB27A
31 positive regulation of JNK cascade GO:0046330 9.56 SLAMF1 RIPK2 NOD2 NOD1
32 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.54 RIPK2 NOD2 NOD1
33 positive regulation of regulated secretory pathway GO:1903307 9.52 UNC13D RAB27A
34 regulation of nucleotide-binding oligomerization domain containing signaling pathway GO:0070424 9.51 XIAP BIRC2
35 positive regulation of stress-activated MAPK cascade GO:0032874 9.5 RIPK2 NOD2 NOD1
36 pattern recognition receptor signaling pathway GO:0002221 9.49 NOD2 NOD1
37 positive regulation of protein K63-linked ubiquitination GO:1902523 9.48 NOD2 BIRC2
38 positive regulation of protein ubiquitination GO:0031398 9.46 XIAP RIPK2 NOD2 BIRC2
39 detection of biotic stimulus GO:0009595 9.43 NOD2 NOD1
40 cellular response to muramyl dipeptide GO:0071225 9.13 RIPK2 NOD2 NOD1
41 positive regulation of xenophagy GO:1904417 8.8 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 protein binding GO:0005515 9.91 XIAP UNC13D TTC7A STXBP2 STX11 SLAMF1
2 identical protein binding GO:0042802 9.8 XIAP SLAMF1 RIPK2 PRF1 NOD1 FHL2
3 cysteine-type endopeptidase inhibitor activity involved in apoptotic process GO:0043027 9.37 XIAP BIRC2
4 peptidoglycan binding GO:0042834 9.32 NOD2 NOD1
5 pattern recognition receptor activity GO:0038187 9.16 NOD2 NOD1
6 CARD domain binding GO:0050700 8.8 RIPK2 NOD2 NOD1

Sources for Lymphoproliferative Syndrome, X-Linked, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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