XPID
MCID: IPX001
MIFTS: 36

Ipex Syndrome (XPID) malady

Genetic diseases (common), Gastrointestinal diseases, Immune diseases categories

Summaries for Ipex Syndrome

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MalaCards based summary: 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 immunoglobulins and cytomegalovirus immune globulin 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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Sources:
20GeneReviews, 21GeneTests, 44Novoseek, 61UMLS
See all sources

Ipex Syndrome, Aliases & Descriptions:

Name: Ipex Syndrome 20 21 61
Immunodeficiency 20 44
Xlaad 20 61
Xpid 20 61
X-Linked Syndrome; X-Linked Autoimmunity-Allergic Dysregulation Syndrome 20
 
; X-Linked Syndrome of Polyendocrinopathy 20
Immunologic Deficiency Syndromes 61
Polyendocrinopathy,enteropathy 20
Immune Dysfunction,diarrhea 20


Classifications:



Related Diseases for Ipex Syndrome

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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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Drug clinical trials:

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Search NIH Clinical Center for Ipex Syndrome

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Ipex Syndrome

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Genetic tests related to Ipex Syndrome:

id Genetic test Affiliating Genes
1 Ipex Syndrome21 FOXP3

Anatomical Context for Ipex Syndrome

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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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MGI Mouse Phenotypes related to Ipex Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1FOXP3, IGHE

Publications for Ipex Syndrome

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Articles related to Ipex Syndrome:

(show all 33)
idTitleAuthorsYear
1
Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3. (25187107)
2014
2
Differences in FOXP3 and CD127 expression in Treg-like cells in patients with IPEX syndrome. (24727448)
2014
3
Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells? (24628744)
2014
4
Clinical Case of Immune Dysregulation, Polyendocrinopaty, Enteropathy, X-Linked (IPEX) Syndrome with Severe Immune Deficiency and Late Onset of Endocrinopathy and Enteropathy. (24982679)
2014
5
Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome. (24224516)
2014
6
Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome. (24250806)
2013
7
Intestinal dysfunction in APECED syndrome could mimic IPEX syndrome. (23287803)
2013
8
IPEX syndrome with membrano-proliferative nephrotic syndrome. (23549728)
2013
9
Proteomics plus genomics approaches in primary immunodeficiency: the case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. (22132891)
2012
10
The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. (22581967)
2012
11
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome. (21400500)
2011
12
A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. (21979562)
2011
13
Autoimmune hepatitis type 2 in a child with IPEX syndrome. (21629128)
2011
14
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. (20650610)
2010
15
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome. (20842625)
2010
16
Reduced FOXP3 expression causes IPEX syndrome onset: An implication from an IPEX patient and his disease-free twin brother. (20709600)
2010
17
Selective engraftment of donor CD4+25high FOXP3-positive T cells in IPEX syndrome after nonmyeloablative hematopoietic stem cell transplantation. (19478054)
2009
18
Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. (18795917)
2009
19
FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome. (19846862)
2009
20
FOXP3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. (19471859)
2009
21
Severe gastritis in an insulin-dependent child with an IPEX syndrome. (19633572)
2009
22
Digestive histopathological presentation of IPEX syndrome. (18820676)
2009
23
Epstein Barr virus induced lymphoma in a child with IPEX syndrome. (17828748)
2008
24
Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. (16990602)
2007
25
A potential screening tool for IPEX syndrome. (17378693)
2007
26
Norwegian scabies mimicking onychomycosis and scalp dermatitis in a child with IPEX syndrome. (17224384)
2007
27
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene. (17484868)
2007
28
Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome. (17115064)
2007
29
Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy. (17629750)
2007
30
Clinical and molecular findings in IPEX syndrome. (16371377)
2006
31
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. (12161590)
2002
32
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome. (11685453)
2001
33
IPEX Syndrome (20301297)
1993

Variations for Ipex Syndrome

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Expression for genes affiliated with Ipex Syndrome

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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, 29IUPHAR, 60Tocris Bioscience
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Compounds related to Ipex Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclosporin a44 29 6011.1FOXP3, 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
  • Proteins
  • Kits and Assays

Sources for Ipex Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet