XPID
MCID: IPX001
MIFTS: 45

Ipex Syndrome (XPID) malady

Categories: Genetic diseases, Gastrointestinal diseases, Immune diseases

Aliases & Classifications for Ipex Syndrome

Aliases & Descriptions for Ipex Syndrome:

Name: Ipex Syndrome 23 24
Immunodeficiency 23 29 52
Polyendocrinopathy,enteropathy X-Linked Syndrome; X-Linked Autoimmunity-Allergic Dysregulation Syndrome 23
Immunodeficiency, Polyendocrinopathy, and Enteropathy, X-Linked Syndrome 24
X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction and Diarrhea 24
Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome 69
X-Linked Autoimmunity-Allergic Dysregulation Syndrome 24
Autoimmunity-Immunodeficiency Syndrome, X-Linked 24
; X-Linked Syndrome of Polyendocrinopathy 23
Immunologic Deficiency Syndromes 69
Immune Dysfunction,diarrhea 23
Xlaad 23
Xpid 23

Classifications:



Summaries for Ipex Syndrome

MalaCards based summary : Ipex Syndrome, also known as immunodeficiency, is related to common variable immunodeficiency and acquired immunodeficiency syndrome, and has symptoms including diarrhea An important gene associated with Ipex Syndrome is FOXP3 (Forkhead Box P3), and among its related pathways/superpathways are NF-kappaB Signaling and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Melphalan and Hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone and bone marrow, and related phenotypes are digestive/alimentary and hematopoietic system

GeneReviews: NBK1118

Related Diseases for Ipex Syndrome

Diseases related to Ipex Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 187)
id Related Disease Score Top Affiliating Genes
1 common variable immunodeficiency 12.2
2 acquired immunodeficiency syndrome 12.1
3 severe combined immunodeficiency, x-linked 12.1
4 severe combined immunodeficiency 12.1
5 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 12.1
6 immunodeficiency 18 12.1
7 severe combined immunodeficiency, athabascan type 12.1
8 primary immunodeficiency disease 12.1
9 immunodeficiency, x-linked, with hyper-igm 12.1
10 immunodeficiency with hyper-igm, type 3 12.0
11 immunodeficiency with hyper-igm, type 2 12.0
12 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia 12.0
13 immunodeficiency with hyper igm, type 5 12.0
14 immunodeficiency 17, cd3 gamma deficient 12.0
15 immunodeficiency, common variable, 10 12.0
16 severe combined immunodeficiency, b cell-negative 12.0
17 severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive 12.0
18 immunodeficiency, primary, autosomal recessive, il21r-related 12.0
19 hepatic venoocclusive disease with immunodeficiency 12.0
20 immunodeficiency 16 12.0
21 t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations 12.0
22 immunodeficiency 11 12.0
23 immunodeficiency 38 12.0
24 immunodeficiency 21 12.0
25 neutrophil immunodeficiency syndrome 12.0
26 immunodeficiency 24 12.0
27 immunodeficiency 15 12.0
28 immunodeficiency 20 12.0
29 immunodeficiency 22 12.0
30 immunodeficiency 26, with or without neurologic abnormalities 12.0
31 adult-onset immunodeficiency with anti-interferon-gamma autoantibodies 12.0
32 immunodeficiency due to defect in mapbp-interacting protein 12.0
33 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.0
34 severe combined immunodeficiency due to ada deficiency 12.0
35 immunodeficiency due to purine nucleoside phosphorylase deficiency 12.0
36 combined t cell and b cell immunodeficiency 12.0
37 immunodeficiency 12 12.0
38 immunodeficiency, common variable, 8, with autoimmunity 12.0
39 immunodeficiency 32a, mycobacteriosis, autosomal dominant 12.0
40 immunodeficiency 8 11.9
41 growth hormone insensitivity with immunodeficiency 11.9
42 immunodeficiency due to ficolin 3 deficiency 11.9
43 immunodeficiency 28, mycobacteriosis 11.9
44 immunodeficiency with hyper-igm, type 4 11.9
45 zap70-related severe combined immunodeficiency 11.9
46 immunodeficiency 27b, mycobacteriosis, ad 11.9
47 immunodeficiency 31a, mycobacteriosis, autosomal dominant 11.9
48 immunodeficiency 29, mycobacteriosis 11.9
49 immunodeficiency 33 11.9
50 immunodeficiency, isolated 11.9

Graphical network of the top 20 diseases related to Ipex Syndrome:



Diseases related to Ipex Syndrome

Symptoms & Phenotypes for Ipex Syndrome

UMLS symptoms related to Ipex Syndrome:


diarrhea

MGI Mouse Phenotypes related to Ipex Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.7 BTK CCR5 CD4 CXCR4 FOXP3 IFNG
2 hematopoietic system MP:0005397 9.65 BTK CCR5 CD4 CD9 CXCR4 FOXP3
3 neoplasm MP:0002006 9.17 CXCR4 IFNG ITIH4 KAT5 RAG2 BTK

Drugs & Therapeutics for Ipex Syndrome

Drugs for Ipex Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 53)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Melphalan Approved Phase 2,Phase 1 148-82-3 4053 460612
2
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
3
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
4
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
5
Thiotepa Approved Phase 2,Phase 1 52-24-4 5453
6
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
7
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
8
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
9
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
10
Mycophenolic acid Approved Phase 2 24280-93-1 446541
11
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
12
Acetaminophen Approved Phase 2 103-90-2 1983
13
Vidarabine Approved Phase 2 24356-66-9 32326 21704
14
Busulfan Approved, Investigational Phase 2 55-98-1 2478
15
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
16
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
17
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
18
Promethazine Approved Phase 2 60-87-7 4927
19
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
20
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
21
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
23 Prednisolone acetate Phase 2
24 Alkylating Agents Phase 2
25 Folic Acid Antagonists Phase 2
26 Nucleic Acid Synthesis Inhibitors Phase 2
27 Dermatologic Agents Phase 2
28
Treosulfan Phase 2 299-75-2 9296
29 Vidarabine Phosphate Phase 2
30 Vitamin B Complex Phase 2
31 Epinephryl borate Phase 2
32 Anti-Bacterial Agents Phase 2
33 Prednisolone hemisuccinate Phase 2
34 Prednisolone phosphate Phase 2
35 Anti-Infective Agents Phase 2
36 Immunosuppressive Agents Phase 2
37 Antifungal Agents Phase 2
38 Antilymphocyte Serum Phase 2
39 Racepinephrine Phase 2
40 Antimetabolites Phase 2
41 Antibiotics, Antitubercular Phase 2
42 Antimetabolites, Antineoplastic Phase 2
43 Methylprednisolone acetate Phase 2
44 Methylprednisolone Hemisuccinate Phase 2
45 Antirheumatic Agents Phase 2
46 Antineoplastic Agents, Alkylating Phase 2
47 Calcineurin Inhibitors Phase 2
48 Antiviral Agents Phase 2
49 Immunoglobulins Phase 2
50 Antibodies, Monoclonal Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2
2 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
3 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2
4 Alemtuzumab, Fludarabine Phosphate, and Total-Body Irradiation Followed by a Donor Stem Cell Transplant in Treating Patients With Immunodeficiency or Other Nonmalignant Inherited Disorders Active, not recruiting NCT00553098 Phase 2
5 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Active, not recruiting NCT01998633 Phase 2
6 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1

Search NIH Clinical Center for Ipex Syndrome

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Ipex Syndrome

Genetic tests related to Ipex Syndrome:

id Genetic test Affiliating Genes
1 Immunodeficiency 29
2 Ipex Syndrome 24 FOXP3

Anatomical Context for Ipex Syndrome

MalaCards organs/tissues related to Ipex Syndrome:

39
T Cells, Bone, Bone Marrow

Publications for Ipex Syndrome

Articles related to Ipex Syndrome:

(show all 42)
id Title Authors Year
1
From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation. ( 26918796 )
2016
2
Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome. ( 26748374 )
2016
3
Long-term disease course in a patient with severe neonatal IPEX syndrome. ( 25977242 )
2015
4
Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops-Expanding the phenotype of IPEX syndrome. ( 26395338 )
2015
5
Familial IPEX syndrome: Different glomerulopathy in two siblings. ( 25712815 )
2015
6
Disease specificity of anti-tryptophan hydroxylase-1 and anti-AIE-75 autoantibodies in APECED and IPEX syndrome. ( 25463430 )
2015
7
A challenging undertaking: Stem cell transplantation for immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. ( 26559324 )
2015
8
Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells? ( 24628744 )
2014
9
Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3. ( 25187107 )
2014
10
Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome. ( 24224516 )
2014
11
Clinical Case of Immune Dysregulation, Polyendocrinopaty, Enteropathy, X-Linked (IPEX) Syndrome with Severe Immune Deficiency and Late Onset of Endocrinopathy and Enteropathy. ( 24982679 )
2014
12
Differences in FOXP3 and CD127 expression in Treg-like cells in patients with IPEX syndrome. ( 24727448 )
2014
13
Intestinal dysfunction in APECED syndrome could mimic IPEX syndrome. ( 23287803 )
2013
14
IPEX Syndrome, FOXP3 and Cancer. ( 25844400 )
2013
15
IPEX syndrome with membrano-proliferative nephrotic syndrome. ( 23549728 )
2013
16
Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome. ( 24250806 )
2013
17
[Girl with IPEX syndrome with low expression of Foxp3]. ( 23291488 )
2012
18
Proteomics plus genomics approaches in primary immunodeficiency: the case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. ( 22132891 )
2012
19
The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. ( 22581967 )
2012
20
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome. ( 21400500 )
2011
21
A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. ( 21979562 )
2011
22
Autoimmune hepatitis type 2 in a child with IPEX syndrome. ( 21629128 )
2011
23
Reduced FOXP3 expression causes IPEX syndrome onset: An implication from an IPEX patient and his disease-free twin brother. ( 20709600 )
2010
24
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome. ( 20842625 )
2010
25
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. ( 20650610 )
2010
26
Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. ( 18795917 )
2009
27
Severe gastritis in an insulin-dependent child with an IPEX syndrome. ( 19633572 )
2009
28
Digestive histopathological presentation of IPEX syndrome. ( 18820676 )
2009
29
FOXP3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. ( 19471859 )
2009
30
FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome. ( 19846862 )
2009
31
Selective engraftment of donor CD4+25high FOXP3-positive T cells in IPEX syndrome after nonmyeloablative hematopoietic stem cell transplantation. ( 19478054 )
2009
32
Epstein Barr virus induced lymphoma in a child with IPEX syndrome. ( 17828748 )
2008
33
Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy. ( 17629750 )
2007
34
Norwegian scabies mimicking onychomycosis and scalp dermatitis in a child with IPEX syndrome. ( 17224384 )
2007
35
Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome. ( 17115064 )
2007
36
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene. ( 17484868 )
2007
37
A potential screening tool for IPEX syndrome. ( 17378693 )
2007
38
Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. ( 16990602 )
2007
39
Clinical and molecular findings in IPEX syndrome. ( 16371377 )
2006
40
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. ( 12161590 )
2002
41
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome. ( 11685453 )
2001
42
IPEX Syndrome ( 20301297 )
1993

Variations for Ipex Syndrome

ClinVar genetic disease variations for Ipex Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ATM NM_000051.3(ATM): c.687delA (p.Asn230Ilefs) deletion Pathogenic rs1057518965 GRCh37 Chromosome 11, 108115539: 108115539

Expression for Ipex Syndrome

Search GEO for disease gene expression data for Ipex Syndrome.

Pathways for Ipex Syndrome

GO Terms for Ipex Syndrome

Cellular components related to Ipex Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.55 CCR5 CD209 CD4 CD9 CXCR4
2 P-body GO:0000932 9.43 APOBEC3F APOBEC3G TRIM5
3 external side of plasma membrane GO:0009897 9.02 CCR5 CD209 CD4 CD9 IFNG
4 apolipoprotein B mRNA editing enzyme complex GO:0030895 8.96 APOBEC3F APOBEC3G

Biological processes related to Ipex Syndrome according to GeneCards Suite gene sharing:

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.87 CCR5 CD4 CD9 IFNG
2 adaptive immune response GO:0002250 9.8 BTK CD209 CD4 IFNG
3 innate immune response GO:0045087 9.8 APOBEC3F APOBEC3G BTK CD209 S100B TRIM5
4 response to virus GO:0009615 9.76 CXCR4 FOXP3 IFNG
5 defense response to virus GO:0051607 9.76 APOBEC3F APOBEC3G IFNG TRIM5
6 immune system process GO:0002376 9.73 APOBEC3F APOBEC3G BTK CD209 CD4 TRIM5
7 positive regulation of defense response to virus by host GO:0002230 9.59 APOBEC3F APOBEC3G
8 dendritic cell chemotaxis GO:0002407 9.58 CCR5 CXCR4
9 calcium-mediated signaling GO:0019722 9.58 BTK CCR5 CXCR4
10 negative regulation of transposition GO:0010529 9.56 APOBEC3F APOBEC3G
11 negative regulation of interleukin-17 production GO:0032700 9.55 FOXP3 IFNG
12 negative regulation of interleukin-2 production GO:0032703 9.54 FOXP3 KAT5
13 cytidine deamination GO:0009972 9.52 APOBEC3F APOBEC3G
14 negative regulation of single stranded viral RNA replication via double stranded DNA intermediate GO:0045869 9.51 APOBEC3F APOBEC3G
15 DNA cytosine deamination GO:0070383 9.48 APOBEC3F APOBEC3G
16 negative regulation of viral process GO:0048525 9.43 APOBEC3F APOBEC3G
17 base conversion or substitution editing GO:0016553 9.37 APOBEC3F APOBEC3G
18 fusion of virus membrane with host plasma membrane GO:0019064 9.33 CCR5 CD4 CXCR4
19 viral process GO:0016032 9.28 APOBEC3G CCNT1 CCR5 CD209 CD4 CXCR4
20 entry into host cell GO:0030260 9.13 CCR5 CD4 CXCR4

Molecular functions related to Ipex Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.87 APOBEC3F APOBEC3G CD4 ERVK-6 RAG2 S100B
2 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines GO:0016814 9.37 APOBEC3F APOBEC3G
3 C-C chemokine binding GO:0019957 9.26 CCR5 CXCR4
4 cytidine deaminase activity GO:0004126 9.16 APOBEC3F APOBEC3G
5 coreceptor activity GO:0015026 9.13 CCR5 CD4 CXCR4
6 virus receptor activity GO:0001618 8.92 CCR5 CD209 CD4 CXCR4

Sources for Ipex Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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