XLP2
MCID: LYM114
MIFTS: 52

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 56 52 73 13 71
Xlp2 56 12 52 58 73
Xiap Deficiency 56 12 52 73
X-Linked Lymphoproliferative Syndrome 2 12 52 15
Lymphoproliferative Syndrome 2, X-Linked 29 6
X-Linked Lymphoproliferative Disease Due to Xiap Deficiency 58
Xiap-Related Lymphoproliferative Disease, X-Linked 52
Lymphoproliferative Syndrome, X-Linked, Type 2 39
X-Linked Lymphoproliferative Syndrome Type 2 58
Xiap Deficiency Syndrome 58

Characteristics:

OMIM:

56
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 56 300635
OMIM Phenotypic Series 56 PS308240
MeSH 43 D008232
ICD10 32 D82.3
Orphanet 58 ORPHA538934
MedGen 41 C1845076
UMLS 71 C1845076

Summaries for Lymphoproliferative Syndrome, X-Linked, 2

OMIM : 56 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 xlp2, is related to dysgammaglobulinemia and lymphoproliferative syndrome, x-linked, 1. 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 Cytokine Signaling in Immune system. The drugs Pharmaceutical Solutions and polysaccharide-K 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 : 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 54)
# Related Disease Score Top Affiliating Genes
1 dysgammaglobulinemia 30.3 XIAP SLAMF1 SH2D1A
2 lymphoproliferative syndrome, x-linked, 1 29.6 XIAP UNC13D STXBP2 STX11 SLAMF1 SH2D1A
3 macrophage activation syndrome 29.5 UNC13D RAB27A PRF1
4 pfeiffer syndrome 29.4 SLAMF1 SH2D1A PRF1
5 lymphoproliferative syndrome 29.4 XIAP UNC13D SLAMF1 SH2D1A PRF1 ITK
6 immune deficiency disease 29.3 XIAP SLAMF1 SH2D1A RAB27A
7 crohn's disease 29.1 NOD2 NOD1 IL10RB IL10RA
8 hemophagocytic lymphohistiocytosis, familial, 1 29.0 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
9 colitis 28.6 NOD2 NOD1 IL10RB IL10RA
10 inflammatory bowel disease 28.5 TTC7A RIPK2 NOD2 NOD1 IL10RB IL10RA
11 hemophagocytic lymphohistiocytosis 28.2 XIAP UNC13D STXBP2 STX11 SH2D1A RAB27A
12 hemophagocytic lymphohistiocytosis, familial, 5 10.3 STXBP2 STX11
13 splenomegaly 10.3
14 hermansky-pudlak syndrome 2 10.1 STXBP2 LYST AP3B1
15 coronin-1a deficiency 10.0 SH2D1A ITK
16 selective immunoglobulin deficiency disease 10.0 XIAP STXBP2 SLAMF1 SH2D1A
17 hermansky-pudlak syndrome 1 10.0 LYST AP3B1
18 common variable immunodeficiency 9.9 XIAP TTC7A SH2D1A NOD2
19 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 9.9 SH2D1A ITK
20 acute hemorrhagic encephalitis 9.9 XIAP UNC13D STXBP2 STX11 SH2D1A
21 hemophagocytic lymphohistiocytosis, familial, 3 9.9 UNC13D STX11 SH2D1A RAB27A
22 autoimmune disease 9.9
23 enterocolitis 9.9
24 familial mediterranean fever 9.9
25 niemann-pick disease, type c1 9.9
26 graft-versus-host disease 9.9
27 juvenile arthritis 9.9
28 exanthema subitum 9.9
29 lymphoma 9.9
30 ileitis 9.9
31 crohn's colitis 9.9
32 brucellosis 9.9
33 neutropenia 9.9
34 uveitis 9.9
35 niemann-pick disease 9.9
36 histiocytosis 9.9
37 juvenile rheumatoid arthritis 9.9
38 duodenitis 9.9
39 blau syndrome 9.9 RIPK2 NOD2 NOD1
40 inflammatory bowel disease 1 9.8 RIPK2 NOD2 NOD1
41 inflammatory bowel disease 25, autosomal recessive 9.7 IL10RB IL10RA
42 piebald trait 9.7 UNC13D STXBP2 STX11 RAB27A LYST
43 hemophagocytic lymphohistiocytosis, familial, 2 9.6 UNC13D STXBP2 STX11 SH2D1A PRF1
44 primary hemophagocytic lymphohistiocytosis 9.5 UNC13D STXBP2 STX11 RAB27A PRF1
45 hermansky-pudlak syndrome 9.5 UNC13D STXBP2 STX11 RAB27A LYST AP3B1
46 gastrointestinal defects and immunodeficiency syndrome 9.5 XIAP TTC7A IL10RB IL10RA
47 lymphoproliferative syndrome 2 9.5 XIAP STXBP2 SLAMF1 SH2D1A ITK AP3B1
48 hemophagocytic lymphohistiocytosis, familial, 4 9.2 UNC13D STXBP2 STX11 RAB27A PRF1 LYST
49 lymphoproliferative syndrome 1 9.1 XIAP UNC13D STXBP2 STX11 SH2D1A PRF1
50 myeloma, multiple 9.0 XIAP SLAMF1 PRF1 BIRC2

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 increased serum ferritin 31 very rare (1%) HP:0003281
6 hemophagocytosis 31 very rare (1%) HP:0012156
7 aplastic anemia 31 very rare (1%) HP:0001915
8 hypofibrinogenemia 31 very rare (1%) HP:0011900
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:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.11 AP3B1 BIRC2 IL10RA IL10RB ITK LYST
2 cellular MP:0005384 10.03 AP3B1 BIRC2 IL10RA IL10RB ITK LYST
3 homeostasis/metabolism MP:0005376 9.77 AP3B1 BIRC2 IL10RA IL10RB LYST NOD2
4 immune system MP:0005387 9.58 AP3B1 BIRC2 IL10RA IL10RB ITK LYST

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
3 Study of Gut Microbiota in Primary Immune Deficiencies, Possibly Associated With Inflammatory Bowel Disease (Chronic Granulomatous Disease, XIAP Gene Deficiency, or TTC7A Gene Deficiency) Completed NCT02909244
4 Screening for Immunodeficiency Diseases in Patients With Severe Epstein-Barr Virus Infection Recruiting NCT03374566

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, Skin, Monocytes, B Cells

Publications for Lymphoproliferative Syndrome, X-Linked, 2

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

(show all 19)
# Title Authors PMID Year
1
Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency. 56 61 6
25943627 2015
2
Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation. 56 6
26182687 2015
3
Clinical and genetic characteristics of XIAP deficiency in Japan. 6 56
22228567 2012
4
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. 6 56
21173700 2011
5
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. 56 6
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. 61 56
25744037 2015
7
Lymphoproliferative Disease, X-Linked 61 6
20301580 2004
8
XIAP deficiency syndrome in humans. 56
25666262 2015
9
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). 56
21119115 2011
10
A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly. 56
20015872 2010
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

Variations for Lymphoproliferative Syndrome, X-Linked, 2

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

6 (show top 50) (show all 142) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 XIAP NM_001167.3(XIAP):c.1021_1022del (p.Asn341fs)deletion Pathogenic 446508 rs1556406033 X:123025131-123025132 X:123891281-123891282
2 XIAP NM_001167.3(XIAP):c.651del (p.Trp217fs)deletion Pathogenic 446509 rs1556404673 X:123020162-123020162 X:123886312-123886312
3 XIAP NM_001167.3(XIAP):c.672dup (p.Pro225fs)duplication Pathogenic 446510 rs1556404697 X:123020181-123020182 X:123886331-123886332
4 XIAP NM_001167.3(XIAP):c.108del (p.Pro37fs)deletion Pathogenic 503904 rs1556404455 X:123019617-123019617 X:123885767-123885767
5 XIAP NM_001167.3(XIAP):c.1141C>T (p.Arg381Ter)SNV Pathogenic 523420 rs1556408009 X:123034384-123034384 X:123900534-123900534
6 XIAP NM_001167.3(XIAP):c.664C>T (p.Arg222Ter)SNV Pathogenic 533655 rs1556404684 X:123020176-123020176 X:123886326-123886326
7 XIAP NM_001167.3(XIAP):c.712C>T (p.Arg238Ter)SNV Pathogenic 568305 rs111978474 X:123020224-123020224 X:123886374-123886374
8 XIAP NC_000023.11:g.(?_123891218)_(123892793_?)deldeletion Pathogenic 583839 X:123025068-123026643 X:123891218-123892793
9 XIAP NC_000023.11:g.(?_123885637)_(123892793_?)deldeletion Pathogenic 584339 X:123019487-123026643 X:123885637-123892793
10 XIAP NM_001167.3(XIAP):c.389_392del (p.Asp130fs)deletion Pathogenic 533654 rs1556404575 X:123019899-123019902 X:123886049-123886052
11 XIAP NM_001167.3(XIAP):c.566T>C (p.Leu189Pro)SNV Pathogenic 624588 rs1569477871 X:123020078-123020078 X:123886228-123886228
12 XIAP GRCh37/hg19 Xq25(chrX:122970459-123034511)copy number loss Pathogenic 625799 X:122970459-123034511
13 XIAP NM_001167.4(XIAP):c.421_422del (p.Leu141fs)deletion Pathogenic 855569 X:123019931-123019932 X:123886081-123886082
14 XIAP NM_001167.3(XIAP):c.955C>T (p.Gln319Ter)SNV Pathogenic 640819 X:123022546-123022546 X:123888696-123888696
15 XIAP NM_001167.3(XIAP):c.609dup (p.Gly204fs)duplication Pathogenic 804082 X:123020120-123020121 X:123886270-123886271
16 XIAP NM_001167.3(XIAP):c.1458del (p.Val487fs)deletion Pathogenic 804083 X:123040995-123040995 X:123907145-123907145
17 XIAP NC_000023.11:g.(?_123885637)_(123888738_?)deldeletion Pathogenic 831093 X:123019487-123022588
18 XIAP NC_000023.11:g.(?_123885637)_(123907201_?)deldeletion Pathogenic 831298 X:123019487-123041051
19 XIAP NM_001167.4(XIAP):c.210_213AGAT[3] (p.Trp73Ter)short repeat Pathogenic 859737 X:123019720-123019721 X:123885870-123885871
20 XIAP NM_001167.3(XIAP):c.292del (p.Glu99fs)deletion Pathogenic 11645 rs1556404534 X:123019804-123019804 X:123885954-123885954
21 XIAP NM_001167.3(XIAP):c.352G>T (p.Glu118Ter)SNV Pathogenic 11646 rs104894764 X:123019864-123019864 X:123886014-123886014
22 XIAP XIAP, 2606-BP DELdeletion Pathogenic 11647
23 XIAP NM_001167.3(XIAP):c.608G>A (p.Cys203Tyr)SNV Pathogenic 37244 rs387907301 X:123020120-123020120 X:123886270-123886270
24 XIAP NC_000023.11:g.(?_123888599)_(123888738_?)dupduplication Likely pathogenic 833322 X:123022449-123022588
25 XIAP NM_001167.4(XIAP):c.1045_1047GAG[1] (p.Glu350del)short repeat Conflicting interpretations of pathogenicity 225518 rs199683465 X:123025155-123025157 X:123891305-123891307
26 XIAP NM_001167.4(XIAP):c.*4336T>GSNV Uncertain significance 914743 X:123045367-123045367 X:123911517-123911517
27 XIAP NM_001167.3(XIAP):c.844G>A (p.Glu282Lys)SNV Uncertain significance 287381 rs777303823 X:123020356-123020356 X:123886506-123886506
28 XIAP NM_001167.4(XIAP):c.*4691G>ASNV Uncertain significance 912791 X:123045722-123045722 X:123911872-123911872
29 XIAP NM_001167.4(XIAP):c.*5986G>ASNV Uncertain significance 914292 X:123047017-123047017 X:123913167-123913167
30 XIAP NM_001167.4(XIAP):c.*6009C>TSNV Uncertain significance 914293 X:123047040-123047040 X:123913190-123913190
31 XIAP NM_001167.4(XIAP):c.*6010G>ASNV Uncertain significance 914294 X:123047041-123047041 X:123913191-123913191
32 XIAP NM_001167.4(XIAP):c.*6256T>CSNV Uncertain significance 914795 X:123047287-123047287 X:123913437-123913437
33 XIAP NM_001167.4(XIAP):c.416A>G (p.Tyr139Cys)SNV Uncertain significance 864155 X:123019928-123019928 X:123886078-123886078
34 XIAP NC_000023.11:g.(?_123885637)_(123907201_?)dupduplication Uncertain significance 830411 X:123019487-123041051
35 XIAP NM_001167.4(XIAP):c.*3589A>CSNV Uncertain significance 913107 X:123044620-123044620 X:123910770-123910770
36 XIAP NM_001167.4(XIAP):c.*3673C>TSNV Uncertain significance 914251 X:123044704-123044704 X:123910854-123910854
37 XIAP NM_001167.4(XIAP):c.*3845A>GSNV Uncertain significance 914252 X:123044876-123044876 X:123911026-123911026
38 XIAP NC_000023.11:g.(?_123885637)_(123886559_?)dupduplication Uncertain significance 831026 X:123019487-123020409
39 XIAP NM_001167.3(XIAP):c.978-10_978-4deldeletion Uncertain significance 665105 X:123025076-123025082 X:123891226-123891232
40 XIAP NM_001167.3(XIAP):c.978-9A>GSNV Uncertain significance 639642 X:123025079-123025079 X:123891229-123891229
41 XIAP NM_001167.4(XIAP):c.482A>G (p.Tyr161Cys)SNV Uncertain significance 853520 X:123019994-123019994 X:123886144-123886144
42 XIAP NM_001167.4(XIAP):c.632A>G (p.Glu211Gly)SNV Uncertain significance 860876 X:123020144-123020144 X:123886294-123886294
43 XIAP NM_001167.4(XIAP):c.838A>C (p.Asn280His)SNV Uncertain significance 846617 X:123020350-123020350 X:123886500-123886500
44 XIAP NM_001167.4(XIAP):c.840C>G (p.Asn280Lys)SNV Uncertain significance 835445 X:123020352-123020352 X:123886502-123886502
45 XIAP NM_001167.4(XIAP):c.844G>C (p.Glu282Gln)SNV Uncertain significance 856103 X:123020356-123020356 X:123886506-123886506
46 XIAP NM_001167.4(XIAP):c.919C>A (p.Leu307Ile)SNV Uncertain significance 853239 X:123022510-123022510 X:123888660-123888660
47 XIAP NM_001167.4(XIAP):c.1048G>A (p.Glu350Lys)SNV Uncertain significance 850105 X:123025158-123025158 X:123891308-123891308
48 XIAP NM_001167.4(XIAP):c.1058T>C (p.Val353Ala)SNV Uncertain significance 839413 X:123026582-123026582 X:123892732-123892732
49 XIAP NM_001167.4(XIAP):c.1154G>A (p.Ser385Asn)SNV Uncertain significance 859597 X:123034397-123034397 X:123900547-123900547
50 XIAP NM_001167.4(XIAP):c.1327C>T (p.Arg443Cys)SNV Uncertain significance 852724 X:123040864-123040864 X:123907014-123907014

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 UNC13D SH2D1A RIPK2 RAB27A NOD2 NOD1
2
Show member pathways
13.13 RIPK2 NOD2 NOD1 IL10RB IL10RA BIRC2
3 12.34 SH2D1A RIPK2 NOD1 ITK
4
Show member pathways
12.03 XIAP IL10RB IL10RA BIRC2
5 12 XIAP RIPK2 NOD1 BIRC2
6 11.96 RIPK2 NOD2 IL10RB IL10RA
7
Show member pathways
11.88 XIAP RIPK2 PRF1 BIRC2
8
Show member pathways
11.62 RIPK2 NOD2 NOD1 BIRC2
9 11.61 XIAP RIPK2 NOD2 NOD1 BIRC2
10
Show member pathways
11.57 XIAP PRF1 BIRC2
11 11.11 RIPK2 NOD2 NOD1
12 10.71 UNC13D RAB27A
13 10.69 RIPK2 NOD2 BIRC2
14 10.57 UNC13D RAB27A
15 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 9.93 XIAP UNC13D STXBP2 SH2D1A RIPK2 RAB27A
2 exocytic vesicle GO:0070382 9.26 UNC13D RAB27A
3 cytolytic granule GO:0044194 8.96 STXBP2 PRF1
4 Weibel-Palade body GO:0033093 8.62 UNC13D RAB27A

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 apoptotic process GO:0006915 10.06 XIAP RIPK2 PRF1 NOD1 BIRC2
2 innate immune response GO:0045087 10.06 SLAMF1 SH2D1A RIPK2 NOD2 NOD1
3 immune system process GO:0002376 10.06 SLAMF1 SH2D1A RIPK2 NOD2 NOD1 ITK
4 inflammatory response GO:0006954 9.99 RIPK2 NOD1 IL10RB AP3B1
5 intracellular protein transport GO:0006886 9.97 STXBP2 STX11 RAB27A AP3B1
6 vesicle-mediated transport GO:0016192 9.95 STXBP2 STX11 RAB27A AP3B1
7 regulation of apoptotic process GO:0042981 9.94 RIPK2 NOD2 NOD1 BIRC2
8 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.92 SLAMF1 RIPK2 NOD2 NOD1
9 defense response to virus GO:0051607 9.89 UNC13D PRF1 LYST IL10RB
10 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.86 RIPK2 NOD2 NOD1 BIRC2
11 activation of MAPK activity GO:0000187 9.85 RIPK2 NOD2 NOD1
12 interleukin-1-mediated signaling pathway GO:0070498 9.83 RIPK2 NOD2 NOD1
13 regulation of inflammatory response GO:0050727 9.82 XIAP NOD2 BIRC2
14 positive regulation of protein ubiquitination GO:0031398 9.8 XIAP RIPK2 BIRC2
15 positive regulation of interleukin-6 production GO:0032755 9.72 RIPK2 NOD2 NOD1
16 positive regulation of tumor necrosis factor production GO:0032760 9.71 RIPK2 NOD2 NOD1
17 cellular defense response GO:0006968 9.7 SH2D1A PRF1 ITK
18 JNK cascade GO:0007254 9.69 RIPK2 NOD2 NOD1
19 positive regulation of exocytosis GO:0045921 9.68 UNC13D RAB27A
20 regulation of innate immune response GO:0045088 9.68 XIAP BIRC2
21 melanosome organization GO:0032438 9.68 LYST AP3B1
22 positive regulation of interleukin-1 beta production GO:0032731 9.66 NOD2 NOD1
23 detection of bacterium GO:0016045 9.64 NOD2 NOD1
24 regulation of mast cell degranulation GO:0043304 9.63 UNC13D STXBP2
25 inhibition of cysteine-type endopeptidase activity involved in apoptotic process GO:1990001 9.62 XIAP BIRC2
26 exocytosis GO:0006887 9.62 UNC13D STXBP2 STX11 RAB27A
27 cellular response to peptidoglycan GO:0071224 9.61 RIPK2 NOD2
28 nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070431 9.61 RIPK2 NOD2
29 pigmentation GO:0043473 9.61 RAB27A LYST AP3B1
30 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.6 NOD2 NOD1
31 positive regulation of xenophagy GO:1904417 9.58 RIPK2 NOD1
32 natural killer cell degranulation GO:0043320 9.57 UNC13D RAB27A
33 positive regulation of regulated secretory pathway GO:1903307 9.49 UNC13D RAB27A
34 positive regulation of protein K63-linked ubiquitination GO:1902523 9.48 NOD2 BIRC2
35 pattern recognition receptor signaling pathway GO:0002221 9.46 NOD2 NOD1
36 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.43 RIPK2 NOD2 NOD1
37 regulation of nucleotide-binding oligomerization domain containing signaling pathway GO:0070424 9.4 XIAP BIRC2
38 detection of biotic stimulus GO:0009595 9.37 NOD2 NOD1
39 positive regulation of stress-activated MAPK cascade GO:0032874 9.33 RIPK2 NOD2 NOD1
40 positive regulation of JNK cascade GO:0046330 9.26 SLAMF1 RIPK2 NOD2 NOD1
41 cellular response to muramyl dipeptide GO:0071225 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 10.09 XIAP UNC13D TTC7A STXBP2 STX11 SLAMF1
2 cysteine-type endopeptidase inhibitor activity involved in apoptotic process GO:0043027 9.37 XIAP BIRC2
3 peptidoglycan binding GO:0042834 9.32 NOD2 NOD1
4 pattern recognition receptor activity GO:0038187 9.26 NOD2 NOD1
5 interleukin-10 receptor activity GO:0004920 8.96 IL10RB IL10RA
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....