XPID
MCID: IPX001
MIFTS: 37

Ipex Syndrome (XPID) malady

Genetic diseases (common), Gastrointestinal diseases, Immune diseases categories
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Summaries for Ipex Syndrome

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19GeneReviews, 33MalaCards
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MalaCards: Ipex Syndrome, also known as immunodeficiency, is related to immunodysregulation, polyendocrinopathy and enteropathy x-linked and omenn syndrome. An important gene associated with Ipex Syndrome is FOXP3 (forkhead box P3). The drugs cytomegalovirus immune globulin and immunoglobulins and the compound cyclosporin a 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, 45Novoseek, 62UMLS
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Classifications:



Aliases & Descriptions:

ipex syndrome 19 20
immunodeficiency 19 45
x-linked syndrome; x-linked autoimmunity-allergic dysregulation syndrome 19
; x-linked syndrome of polyendocrinopathy 19
immunologic deficiency syndromes 62
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

Symptoms for Ipex Syndrome

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Drugs & Therapeutics for Ipex Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Ipex Syndrome

Search NIH Clinical Center for Ipex Syndrome

Inferred drug relations via UMLS62/NDF-RT41:

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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33MalaCards
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MalaCards organs/tissues related to Ipex Syndrome:

33
T cells, Bone marrow, Bone

Animal Models for Ipex Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Ipex Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1FOXP3, IGHE

Publications for Ipex Syndrome

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52PubMed
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Articles related to Ipex Syndrome:

(show all 29)
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
The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. (22581967)
2012
7
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome. (21400500)
2011
8
A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. (21979562)
2011
9
Autoimmune hepatitis type 2 in a child with IPEX syndrome. (21629128)
2011
10
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. (20650610)
2010
11
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome. (20842625)
2010
12
Reduced FOXP3 expression causes IPEX syndrome onset: An implication from an IPEX patient and his disease-free twin brother. (20709600)
2010
13
Selective engraftment of donor CD4+25high FOXP3-positive T cells in IPEX syndrome after nonmyeloablative hematopoietic stem cell transplantation. (19478054)
2009
14
Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. (18795917)
2009
15
FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome. (19846862)
2009
16
FOXP3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. (19471859)
2009
17
Severe gastritis in an insulin-dependent child with an IPEX syndrome. (19633572)
2009
18
Digestive histopathological presentation of IPEX syndrome. (18820676)
2009
19
Epstein Barr virus induced lymphoma in a child with IPEX syndrome. (17828748)
2008
20
Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. (16990602)
2007
21
A potential screening tool for IPEX syndrome. (17378693)
2007
22
Norwegian scabies mimicking onychomycosis and scalp dermatitis in a child with IPEX syndrome. (17224384)
2007
23
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene. (17484868)
2007
24
Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome. (17115064)
2007
25
Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy. (17629750)
2007
26
Clinical and molecular findings in IPEX syndrome. (16371377)
2006
27
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. (12161590)
2002
28
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome. (11685453)
2001
29
IPEX Syndrome (20301297)
1993

Variations for Ipex Syndrome

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Expression for genes affiliated with Ipex Syndrome

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2BioGPS, 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:
45Novoseek, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Ipex Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclosporin a45 29 6111.1FOXP3, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet