XPID
MCID: IPX001
MIFTS: 39

Ipex Syndrome (XPID) malady

Gastrointestinal diseases, Immune diseases categories

Summaries for Ipex Syndrome

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19GeneReviews, 32MalaCards
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MalaCards: Ipex Syndrome, also known as immunodeficiency, is related to immunodysregulation, polyendocrinopathy and enteropathy x-linked and arthritis. An important gene associated with Ipex Syndrome is FOXP3 (forkhead box P3). The drugs cytomegalovirus immune globulin and immunoglobulins and the compounds protamine and hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone marrow and bone, and related mouse phenotype no phenotypic analysis.

GeneReviews summary for ipex

Aliases & Classifications for Ipex Syndrome

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19GeneReviews, 20GeneTests, 44Novoseek, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Gastrointestinal diseases, Immune diseases


Aliases & Descriptions:

ipex syndrome 19 20
immunodeficiency 19 44
x-linked syndrome; x-linked autoimmunity-allergic dysregulation syndrome 19
; x-linked syndrome of polyendocrinopathy 19
immunologic deficiency syndromes 60
polyendocrinopathy,enteropathy 19
immune dysfunction,diarrhea 19
xlaad 19
xpid 19


Related Diseases for Ipex Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Ipex Syndrome:



Diseases related to ipex syndrome

Clinical Features for Ipex Syndrome

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Drugs & Therapeutics for Ipex Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Ipex Syndrome

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Ipex Syndrome

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20GeneTests
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Genetic tests related to Ipex Syndrome:

id Genetic test Affiliating Genes
1 Ipex Syndrome20 FOXP3

Anatomical Context for Ipex Syndrome

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32MalaCards
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MalaCards organs/tissues related to Ipex Syndrome:

32
T cells, Bone marrow, Bone

Animal Models for Ipex Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Ipex Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.5INS, IGHE, FOXP3

Publications for Ipex Syndrome

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50PubMed
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Articles related to Ipex Syndrome:

(show all 36)
idTitleAuthorsYear
1
Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome. (24224516)
2014
2
Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome. (24250806)
2013
3
Intestinal dysfunction in APECED syndrome could mimic IPEX syndrome. (23287803)
2013
4
IPEX syndrome with membrano-proliferative nephrotic syndrome. (23549728)
2013
5
Proteomics plus genomics approaches in primary immunodeficiency: the case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. (22132891)
2012
6
Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome. (22264504)
2012
7
The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. (22581967)
2012
8
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome. (21400500)
2011
9
A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. (21979562)
2011
10
Autoimmune hepatitis type 2 in a child with IPEX syndrome. (21629128)
2011
11
Autoantibodies to villin occur frequently in IPEX, a severe immune dysregulation, syndrome caused by mutation of FOXP3. (21741320)
2011
12
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. (20650610)
2010
13
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome. (20842625)
2010
14
Reduced FOXP3 expression causes IPEX syndrome onset: An implication from an IPEX patient and his disease-free twin brother. (20709600)
2010
15
Selective engraftment of donor CD4+25high FOXP3-positive T cells in IPEX syndrome after nonmyeloablative hematopoietic stem cell transplantation. (19478054)
2009
16
Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. (18795917)
2009
17
FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome. (19846862)
2009
18
FOXP3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. (19471859)
2009
19
Severe gastritis in an insulin-dependent child with an IPEX syndrome. (19633572)
2009
20
From autoimmune enteropathy to the IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome. (19912978)
2009
21
Digestive histopathological presentation of IPEX syndrome. (18820676)
2009
22
Epstein Barr virus induced lymphoma in a child with IPEX syndrome. (17828748)
2008
23
Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. (16990602)
2007
24
A potential screening tool for IPEX syndrome. (17378693)
2007
25
Norwegian scabies mimicking onychomycosis and scalp dermatitis in a child with IPEX syndrome. (17224384)
2007
26
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene. (17484868)
2007
27
Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome. (17115064)
2007
28
Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy. (17629750)
2007
29
Clinical and molecular findings in IPEX syndrome. (16371377)
2006
30
Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. (12819471)
2003
31
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. (12161590)
2002
32
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. (11137993)
2001
33
IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena. (11753102)
2001
34
Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX). (11768393)
2001
35
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome. (11685453)
2001
36
IPEX Syndrome (20301297)
1993

Genetic Variations for Ipex Syndrome

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Expression for genes affiliated with Ipex Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ipex Syndrome

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Pathways for genes affiliated with Ipex Syndrome

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Compounds for genes affiliated with Ipex Syndrome

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Sources:
44Novoseek, 2BitterDB, 59Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Ipex Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1protamine449.2INS, IGHE
2hydrocortisone44 2 59 1112.2INS, IGHE
3carbohydrates449.1INS, IGHE
4epinephrine44 11 2411.1INS, IGHE
5thyroxine44 2410.0IGHE, INS
6glycerol44 11 2410.8INS, IGHE

GO Terms for genes affiliated with Ipex Syndrome

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Products for genes affiliated with Ipex Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ipex Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet