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IPEX
MCID: IMM106
MIFTS: 68

Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (IPEX)

Categories: Blood diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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MalaCards integrated aliases for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

Name: Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 56 12 13 39
Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked 56 12 52 25
Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome 25 29 6 71
X-Linked Autoimmunity-Allergic Dysregulation Syndrome 56 12 52 25
Ipex Syndrome 24 52 25 36
Xlaad 56 12 52 25
Ipex 56 12 58 73
Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea 56 12 25
Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy 56 52 25
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome 12 58 15
Autoimmunity-Immunodeficiency Syndrome, X-Linked 56 12 25
Iddm-Secretory Diarrhea Syndrome 56 12 25
Dmsd 56 12 52
Xpid 56 12 52
Immunodeficiency, Polyendocrinopathy, and Enteropathy, X-Linked 12 25
Polyendocrinopathy, Immune Dysfunction, and Diarrhea, X-Linked 56 25
Autoimmune Enteropathy Type 1 12 58
Immunodeficiency, Polyendocrinopathy, and Enteropathy, X-Linked, Formerly 56
X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea 29
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome 25
Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome 29
Polyendocrinopathy, Immune Dysfunction, and Diarrhea, X-Linked; Xpid 56
Immunodeficiency, Polyendocrinopathy, Enteropathy X-Linked Syndrome 24
Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome 73
Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked 52
X-Linked Autoimmunity-Allergic Dysregulation Syndrome; Xlaad 56
Polyendocrinopathy, Immune Dysfunction and Diarrhea X-Linked 52
Autoimmunity-Immunodeficiency Syndrome X-Linked 52
X-Linked Autoimmunity-Immunodeficiency Syndrome 73
Iddm-Secretory Diarrhea Syndrome; Dmsd 56
Iddm Secretory Diarrhea Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

56
Miscellaneous:
variable severity
death usually occurs in infancy or childhood if untreated

Inheritance:
x-linked recessive


HPO:

31
immunodysregulation, polyendocrinopathy, and enteropathy, x-linked:
Onset and clinical course variable expressivity
Inheritance x-linked recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Gastrointestinal diseases Endocrine diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare gastroenterological diseases
Rare endocrine diseases
Rare immunological diseases


Sources

Summaries for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

About this section
Genetics Home Reference : 25 Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome primarily affects males and is caused by problems with the immune system. The immune system normally protects the body from foreign invaders, such as bacteria and viruses, by recognizing and attacking these invaders and clearing them from the body. However, the immune system can malfunction and attack the body's own tissues and organs instead, which is known as autoimmunity. IPEX syndrome is characterized by the development of multiple autoimmune disorders in affected individuals. Although IPEX syndrome can affect many different areas of the body, autoimmune disorders involving the intestines, skin, and hormone-producing (endocrine) glands occur most often. IPEX syndrome can be life-threatening in early childhood. Almost all individuals with IPEX syndrome develop a disorder of the intestines called autoimmune enteropathy. Autoimmune enteropathy occurs when certain cells in the intestines are destroyed by a person's immune system. It causes severe diarrhea, which is usually the first symptom of IPEX syndrome. Autoimmune enteropathy typically begins in the first few months of life. It can cause failure to gain weight and grow at the expected rate (failure to thrive) and general wasting and weight loss (cachexia). People with IPEX syndrome frequently develop inflammation of the skin, called dermatitis. Eczema is the most common type of dermatitis that occurs in this syndrome, and it causes abnormal patches of red, irritated skin. Other skin disorders that cause similar symptoms are sometimes present in IPEX syndrome. The term polyendocrinopathy is used in IPEX syndrome because individuals can develop multiple disorders of the endocrine glands. Type 1 diabetes mellitus is an autoimmune condition involving the pancreas and is the most common endocrine disorder present in people with IPEX syndrome. It usually develops within the first few months of life and prevents the body from properly controlling the amount of sugar in the blood. Autoimmune thyroid disease may also develop in people with IPEX syndrome. The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. This gland is commonly underactive (hypothyroidism) in individuals with this disorder, but may become overactive (hyperthyroidism). Individuals with IPEX syndrome typically develop other types of autoimmune disorders in addition to those that involve the intestines, skin, and endocrine glands. Autoimmune blood disorders are common; about half of affected individuals have low levels of red blood cells (anemia), platelets (thrombocytopenia), or certain white blood cells (neutropenia) because these cells are attacked by the immune system. In some individuals, IPEX syndrome involves the liver and kidneys.

MalaCards based summary : Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked, also known as diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked, is related to autoimmune enteropathy and polyendocrinopathy, and has symptoms including diarrhea An important gene associated with Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked is FOXP3 (Forkhead Box P3), and among its related pathways/superpathways are Th17 cell differentiation and Inflammatory bowel disease (IBD). The drugs Methylprednisolone and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include t cells, thyroid and skin, and related phenotypes are type i diabetes mellitus and failure to thrive in infancy

Disease Ontology : 12 An autoimmune hypersensitivity disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material basis in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11.

NIH Rare Diseases : 52 Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a rare autoimmune disease . it affects only males and starts in the first six months of life. The symptoms of IPEX syndrome include severe diarrhea , diabetes , skin conditions (such as eczema , erythroderma , or psoriasis ), and thyroid disease (thyroiditis ). IPEX syndrome is caused by changes (mutations ) of the FOXP3 gene , which is located on the X chromosome . There are several other diseases that are very similar to the IPEX syndrome, caused by mutations in other genes and that affect both males and females. Treatment of IPEX syndrome consists of medications that limit immune system function; a bone marrow transplantation is the only treatment that can cure the disease, but it may have several complications. Research is ongoing for new and safer treatments.

OMIM : 56 IPEX is an X-linked recessive immunologic disorder characterized by onset in infancy of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis. Other features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, and nephritis. The disorder may be fatal before age 2 years if not aggressively treated. Long-term therapeutic options include immunosuppression and hematopoietic stem cell transplantation (review by d'Hennezel et al., 2012). (304790)

KEGG : 36 IPEX syndrome is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance. This disease is caused by mutations in FOXP3, a critical regulator of T-cell homeostasis. Clinically, IPEX manifests most commonly with diarrhea, insulin-dependent diabetes mellitus, thyroid disorders, and eczema.

UniProtKB/Swiss-Prot : 73 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome: Characterized by neonatal onset insulin-dependent diabetes mellitus, infections, secretory diarrhea, thrombocytopenia, anemia and eczema. It is usually lethal in infancy.

Wikipedia : 74 Immunodysregulation polyendocrinopathy enteropathy X-linked (or IPEX) syndrome is a rare disease linked... more...

GeneReviews: NBK1118
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Related Diseases for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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Diseases related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 495)
# Related Disease Score Top Affiliating Genes
1 autoimmune enteropathy 33.1 IL2RA IL17A FOXP3
2 polyendocrinopathy 32.4 FOXP3 AIRE
3 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 31.3 IL17A IL10 FOXP3 CTLA4 AIRE
4 esophagitis, eosinophilic, 1 31.2 IL4 ICOSLG CCR6
5 dermatitis, atopic 31.1 TNFRSF18 IL4 IL2RA IL2 IL17A IL10
6 dermatitis 30.7 IL4 IL2 IL17A IL10 CTLA4 CCR6
7 thyroiditis 30.7 IL4 IL2 IL10 FOXP3 CTLA4
8 scabies 30.7 IL10 CD4 CCR6
9 alopecia 30.6 IL4 IL2 CTLA4 AIRE
10 alopecia universalis congenita 30.5 CD8A CD4 AIRE
11 graft-versus-host disease 30.5 IL2 IL10 CD28
12 hypereosinophilic syndrome 30.5 STAT5B IL4 IL2RA IL2 IL10
13 norwegian scabies 30.5 IL17A CD8A CD4
14 food allergy 30.4 IL4 IL17A IL10 FOXP3 CTLA4
15 autoimmune hepatitis 30.3 IL4 IL10 FOXP3 CTLA4 AIRE
16 pancytopenia 30.3 IL2RA FOXP3 CD8A CD4
17 x-linked recessive disease 30.1 IL4 IL2 IL10 ICOSLG FOXP3 CTLA4
18 proteasome-associated autoinflammatory syndrome 1 30.1 IL4 IL17A IL10
19 thrombocytopenia 30.1 IL4 IL2 IL17A IL10 FOXP3 CTLA4
20 candidiasis 30.1 IL4 IL2 IL17A IL10 CCR6 AIRE
21 anemia, autoimmune hemolytic 30.0 LRBA IL2 ICOSLG FOXP3 CTLA4 CD8A
22 bacterial infectious disease 30.0 IL17A IL10 ICOSLG CD8A CD4 CCR6
23 exanthem 29.9 IL2 IL10 ICOSLG CTLA4 CD8A CD4
24 toxic shock syndrome 29.7 IL4 IL2 IL10
25 crohn's disease 29.6 IL4 IL2 IL17A IL10 ICOSLG CD4
26 autoimmune disease 29.5 TNFRSF18 IL4 IL2RA IL2 IL17A IL10
27 colitis 29.5 IL4 IL2 IL17A IL10 ICOSLG FOXP3
28 primary biliary cirrhosis 29.4 IL7R IL4 IL2 IL17A IL10 FOXP3
29 hashimoto thyroiditis 29.4 IL4 IL2RA IL2 IL17A IL10 FOXP3
30 lymphopenia 29.3 IL7R IL4 IL2RA IL2 IL10 ICOSLG
31 immune deficiency disease 29.3 STAT5B IL7R IL4 IL2RA IL2 IL10
32 common variable immunodeficiency 29.2 TNFRSF18 LRBA IL4 IL2RA IL2 IL10
33 skin disease 29.2 IL4 IL2 IL17A IL10 ICOSLG CTLA4
34 t cell deficiency 29.0 LRBA IL7R IL2 IL17A ICOSLG DOCK8
35 diabetes mellitus 28.8 IL4 IL2RA IL2 IL17A IL10 FOXP3
36 celiac disease 1 28.4 IL7R IL4 IL2RA IL2 IL17A IL10
37 inflammatory bowel disease 28.2 TNFRSF18 LRBA IL7R IL4 IL2RA IL2
38 diabetes mellitus, type i 28.0 IL7R IL4 IL2RA IL2 IL17A IL10
39 pilonidal sinus 10.6 IL2RA CD4
40 large granular lymphocyte leukemia 10.6 STAT5B IL2RA
41 autoimmune addison disease 10.6 CTLA4 AIRE
42 adenohypophysitis 10.6 IL2RA CD4
43 wissler-fanconi syndrome 10.6 CD4 AIRE
44 cork-handlers' disease 10.6 CD8A CD4
45 caplan's syndrome 10.6 FOXP3 CD4
46 spotted fever rickettsiosis 10.6 IL10 CTLA4
47 autoimmune neuropathy 10.6 ICOSLG FOXP3 CD4
48 acute proliferative glomerulonephritis 10.5 ICOSLG CD4 CCR6
49 glioblastoma neural subtype 10.5 STAT5B IL2
50 childhood type dermatomyositis 10.5 ICOSLG CD4 CCR6

Graphical network of the top 20 diseases related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:



Diseases related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked
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Symptoms & Phenotypes for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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Human phenotypes related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type i diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0100651
2 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
3 thyroiditis 58 31 frequent (33%) Frequent (79-30%) HP:0100646
4 crusting erythematous dermatitis 58 31 frequent (33%) Frequent (79-30%) HP:0007473
5 eczematoid dermatitis 58 31 frequent (33%) Frequent (79-30%) HP:0000976
6 iron deficiency anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001891
7 allergy 58 31 frequent (33%) Frequent (79-30%) HP:0012393
8 secretory diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0005208
9 anti-thyroid peroxidase antibody positivity 58 31 frequent (33%) Frequent (79-30%) HP:0025379
10 reduced proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells 58 31 frequent (33%) Frequent (79-30%) HP:0031401
11 increased circulating ige level 31 frequent (33%) HP:0003212
12 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
13 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
14 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
15 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
16 psoriasiform dermatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003765
17 abnormal blistering of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008066
18 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
19 urticaria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001025
20 cachexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004326
21 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
22 hypocalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002901
23 hypoalbuminemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003073
24 nail dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008404
25 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
26 tubulointerstitial nephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001970
27 recurrent skin infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0001581
28 autoimmune hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001890
29 hypomagnesemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002917
30 autoimmune thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001973
31 interstitial pneumonitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006515
32 neutropenia in presence of anti-neutropil antibodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0001904
33 anti-liver cytosolic antigen type 1 antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0030909
34 recurrent gastroenteritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0031123
35 membranous nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012578
36 decreased prealbumin level 58 31 occasional (7.5%) Occasional (29-5%) HP:0031085
37 insulin receptor antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0031104
38 splenomegaly 58 31 very rare (1%) Very rare (<4-1%) HP:0001744
39 osteomyelitis 58 31 very rare (1%) Very rare (<4-1%) HP:0002754
40 myositis 58 31 very rare (1%) Very rare (<4-1%) HP:0100614
41 alopecia 58 31 very rare (1%) Very rare (<4-1%) HP:0001596
42 nephrotic syndrome 58 31 very rare (1%) Very rare (<4-1%) HP:0000100
43 hyperthyroidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000836
44 meningitis 58 31 very rare (1%) Very rare (<4-1%) HP:0001287
45 sepsis 58 31 very rare (1%) Very rare (<4-1%) HP:0100806
46 lymphadenopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0002716
47 pneumonia 58 31 very rare (1%) Very rare (<4-1%) HP:0002090
48 gastritis 58 31 very rare (1%) Very rare (<4-1%) HP:0005263
49 colitis 58 31 very rare (1%) Very rare (<4-1%) HP:0002583
50 ileus 58 31 very rare (1%) Very rare (<4-1%) HP:0002595

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
hypothyroidism
insulin-dependent diabetes mellitus (type i)

Skin Nails Hair Skin:
eczema
atopy

Immunology:
immune dysregulation
increased serum ige
variable autoimmune disorders
lymphadenopathy may occur
autoantibodies

Hematology:
thrombocytopenia
eosinophilia
hemolytic anemia, autoimmune

Abdomen Gastrointestinal:
ileus
enteropathy
diarrhea, secretory
villous atrophy seen on biopsy
chronic inflammation

Clinical features from OMIM:

304790

UMLS symptoms related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:


diarrhea

MGI Mouse Phenotypes related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.39 AIRE CCR6 CD28 CD4 CD8A CTLA4
2 immune system MP:0005387 10.32 AIRE CCR6 CD28 CD4 CD8A CTLA4
3 endocrine/exocrine gland MP:0005379 10.27 AIRE CD28 CD4 CD8A CTLA4 FOXP3
4 homeostasis/metabolism MP:0005376 10.25 AIRE CCR6 CD28 CD4 CTLA4 ENTPD1
5 cellular MP:0005384 10.24 CD28 CD4 CD8A DOCK8 FOXP3 IL10
6 digestive/alimentary MP:0005381 10.22 AIRE CD28 CD4 CTLA4 FOXP3 IL10
7 integument MP:0010771 9.97 CD28 CD4 CD8A CTLA4 FOXP3 IL10
8 liver/biliary system MP:0005370 9.86 AIRE CTLA4 ENTPD1 FOXP3 IL10 IL2
9 no phenotypic analysis MP:0003012 9.7 AIRE CD4 FOXP3 IL10 IL17A IL2
10 normal MP:0002873 9.7 AIRE CCR6 CD28 CD4 CD8A CTLA4
11 respiratory system MP:0005388 9.28 AIRE CTLA4 ENTPD1 FOXP3 IL10 IL17A
Sources

Drugs & Therapeutics for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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Drugs for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
2
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
3
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
4
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
5 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
6
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
7
Cisplatin Approved Phase 1, Phase 2 15663-27-1 2767 441203 84093
8
Capecitabine Approved, Investigational Phase 1, Phase 2 154361-50-9 60953
9
Docetaxel Approved, Investigational Phase 1, Phase 2 114977-28-5 148124
10
Melphalan Approved Phase 2 148-82-3 460612 4053
11
alemtuzumab Approved, Investigational Phase 2 216503-57-0
12
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
13
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
14
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
15
leucovorin Approved Phase 2 58-05-9 6006 143
16
Busulfan Approved, Investigational Phase 2 55-98-1 2478
17
Hydroxyurea Approved Phase 2 127-07-1 3657
18
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
19
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
20
Mycophenolic acid Approved Phase 2 24280-93-1 446541
21
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
22
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
23
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
24
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
25
Treosulfan Investigational Phase 2 299-75-2 9296
26 Methylprednisolone Acetate Phase 2
27 Immunoglobulins Phase 2
28 Antibodies Phase 2
29 Antibodies, Monoclonal Phase 2
30 Immunoglobulins, Intravenous Phase 2
31 Tubulin Modulators Phase 1, Phase 2
32 Antimitotic Agents Phase 1, Phase 2
33 Cyclosporins Phase 2
34 Antifungal Agents Phase 2
35 Dermatologic Agents Phase 2
36 Antineoplastic Agents, Immunological Phase 2
37 Vitamin B Complex Phase 2
38 Folic Acid Antagonists Phase 2
39 Folate Phase 2
40 Thymoglobulin Phase 2
41 Vitamin B9 Phase 2
42 Antilymphocyte Serum Phase 2
43 Antitubercular Agents Phase 2
44 Anti-Bacterial Agents Phase 2
45 Anti-Infective Agents Phase 2
46 Immunosuppressive Agents Phase 2
47 Immunologic Factors Phase 2
48 Calcineurin Inhibitors Phase 2
49 Antibiotics, Antitubercular Phase 2
50 Antirheumatic Agents Phase 2

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Reduced-Intensity Conditioning for Children and Adults With Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (RICHI) (BMT CTN #1204) Completed NCT01998633 Phase 2
2 Hematopoietic Cell Transplantation for Treatment of Patients With Primary Immunodeficiencies and Other Nonmalignant Inherited Disorders Using Low-Dose TBI and Fludarabine With or Without Campath® Completed NCT00553098 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
3 A Phase I-II Study of Systemic Capecitabine, Cisplatin and Intraperitoneal Docetaxel (XPID) in Patients With Advanced Stomach Cancer With Peritoneal Seeding Completed NCT01525771 Phase 1, Phase 2
4 Allogeneic Hematopoietic Cell Transplantation for Patients With Nonmalignant Inherited Disorders Using a Treosulfan Based Preparative Regimen Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
5 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤55 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
6 Allogeneic Hematopoietic Cell Transplantation for Patients With Treatment-Refractory Crohn's Disease: A Phase 2 Study Terminated NCT01570348 Phase 2 Cyclophosphamide;Fludarabine Phosphate;Mycophenolate Mofetil;Mycophenolic Acid;Tacrolimus
7 A Pilot Study of Reduced Intensity Conditioning in Pediatric Patients <21 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood Transplantation Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
8 Natural History of Intestinal Inflammation in Patients With Primary Immune Dysregulations Recruiting NCT03278912
9 Studies of Disorders With Increased Susceptibility to Fungal Infections Recruiting NCT01222741
10 Identification of New Immunopathogenic Mechanisms Associated With LRBA or CTLA4 Deficiencies Recruiting NCT04377867 Abatacept Injection [Orencia]
11 The Effect of Premedication With Curcumin on Post-Operative Pain in Single Visit Endodontic Treatment of Acute Pulpitis in Mandibular Molars: A Randomized Controlled Trial Not yet recruiting NCT04012424 curcumin group:Curcumin is an ancient coloring spice . Interestingly, it has various pharmacological activities including analgesic, anti-inf

Search NIH Clinical Center for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked

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Genetic Tests for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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Genetic tests related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

# Genetic test Affiliating Genes
1 Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome 29 FOXP3
2 Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome 29
3 X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea 29
Sources

Anatomical Context for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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MalaCards organs/tissues related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

40
T Cells, Thyroid, Skin, Bone Marrow, Bone, Liver, Kidney
Sources

Publications for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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Articles related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

(show top 50) (show all 335)
# Title Authors PMID Year
1
JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. 24 56 6
11120765 2000
2
Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome. 56 6 61
14671208 2003
3
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. 6 56 61
11137992 2001
4
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. 6 56 61
11137993 2001
5
Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. 24 61 56
18951619 2008
6
Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. 61 56 24
11396442 2001
7
Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome. 6 56
11295725 2001
8
Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome. 6 56
10706361 2000
9
An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. 56 24
7040622 1982
10
The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. 61 56
22581967 2012
11
Defective regulatory and effector T cell functions in patients with FOXP3 mutations. 6 61
16741580 2006
12
IPEX Syndrome 61 6
20301297 2004
13
Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome. 24 61
29400909 2018
14
FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 61 24
29193502 2018
15
From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation. 61 24
26918796 2018
16
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study. 61 24
29241729 2018
17
Whole genome sequencing identifies etiology of recurrent male intrauterine fetal death. 24 61
28833278 2017
18
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound. 61 24
28317311 2017
19
Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome. 24 61
27253662 2017
20
Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report. 61 24
29312905 2017
21
A challenging undertaking: Stem cell transplantation for immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. 24 61
26559324 2016
22
Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops--Expanding the phenotype of IPEX syndrome. 61 24
26395338 2016
23
Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start? 61 24
26661331 2016
24
Renal involvement in the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder. 24 61
25911531 2015
25
Familial IPEX syndrome: different glomerulopathy in two siblings. 61 24
25712815 2015
26
Fetal-onset IPEX: report of two families and review of literature. 24 61
25546394 2015
27
Clinical heterogeneity of immunodysregulation, polyendocrinopathy, enteropathy, X-linked: pulmonary involvement as a non-classical disease manifestation. 61 24
24916357 2014
28
Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity. 61 24
23060872 2012
29
Autoimmune hepatitis type 2 in a child with IPEX syndrome. 61 24
21629128 2011
30
Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 61 24
20643476 2010
31
Severe gastritis in an insulin-dependent child with an IPEX syndrome. 24 61
19633572 2009
32
Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. 61 24
18795917 2009
33
Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes. 24 61
18931102 2009
34
Use of sirolimus in IPEX and IPEX-like children. 24 61
18481161 2008
35
Molecular basis of neonatal diabetes in Japanese patients. 6
17635943 2007
36
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene. 24 61
17484868 2007
37
CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. 24 61
17196245 2007
38
Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome. 24 61
17115064 2007
39
Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. 24 61
16990602 2007
40
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression. 24 61
17712989 2007
41
Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor. 24 61
16920951 2006
42
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) associated with pemphigoid nodularis: a case report and review of the literature. 24 61
16781310 2006
43
Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome. 24 61
16630773 2006
44
Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development. 24 61
16617117 2006
45
Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome). 24 61
16126062 2005
46
FOXP3 acts as a rheostat of the immune response. 24 61
15661028 2005
47
Autoimmune enteropathy: molecular concepts. 61 24
15703687 2004
48
Autoimmune polyendocrine syndromes. 56
15141045 2004
49
Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 24 61
15096376 2004
50
Neonatal enteropathies: defining the causes of protracted diarrhea of infancy. 61 24
14676590 2004
Sources

Variations for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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ClinVar genetic disease variations for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

6 (show top 50) (show all 51) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXP3 NM_014009.4(FOXP3):c.210+1G>ASNV Pathogenic 834992 X:49114752-49114752 X:49258295-49258295
2 FOXP3 NM_014009.3(FOXP3):c.1189C>T (p.Arg397Trp)SNV Pathogenic 11407 rs28935477 X:49107902-49107902 X:49251441-49251441
3 FOXP3 FOXP3, 20-BP DEL, 3-BP INS, NT1290indel Pathogenic 11408
4 FOXP3 NM_014009.3(FOXP3):c.1112T>G (p.Phe371Cys)SNV Pathogenic 11409 rs122467169 X:49108159-49108159 X:49251698-49251698
5 FOXP3 NM_014009.3(FOXP3):c.1150G>A (p.Ala384Thr)SNV Pathogenic 11410 rs122467170 X:49107941-49107941 X:49251480-49251480
6 FOXP3 NM_014009.4(FOXP3):c.1293_1294del (p.Ter432ThrextTer?)deletion Pathogenic 11411 X:49107797-49107798 X:49251336-49251337
7 FOXP3 NM_014009.4(FOXP3):c.967+4A>GSNV Pathogenic 11412 X:49110374-49110374 X:49253913-49253913
8 FOXP3 NM_014009.3(FOXP3):c.751_753del (p.Glu251del)deletion Pathogenic 11413 rs122467171 X:49111953-49111955 X:49255492-49255494
9 FOXP3 FOXP3, 1-BP DELdeletion Pathogenic 11414
10 FOXP3 NM_014009.3(FOXP3):c.1117_1118delinsGC (p.Phe373Ala)indel Pathogenic 11415 rs122467172 X:49108153-49108154 X:49251692-49251693
11 FOXP3 NM_014009.3(FOXP3):c.970T>C (p.Phe324Leu)SNV Pathogenic 11416 rs122467173 X:49109661-49109661 X:49253200-49253200
12 FOXP3 FOXP3, 543C-TSNV Pathogenic 11417
13 FOXP3 NM_014009.3(FOXP3):c.3G>A (p.Met1Ile)SNV Pathogenic 11418 rs122467174 X:49114960-49114960 X:49258503-49258503
14 FOXP3 NM_014009.3(FOXP3):c.1099T>C (p.Phe367Leu)SNV Pathogenic 11419 rs122467175 X:49108172-49108172 X:49251711-49251711
15 FOXP3 NM_014009.4(FOXP3):c.-23+1G>TSNV Pathogenic 691990 X:49121122-49121122 X:49264660-49264660
16 FOXP3 NM_014009.3(FOXP3):c.727del (p.Glu243fs)deletion Pathogenic 211046 rs797045588 X:49112184-49112184 X:49255723-49255723
17 FOXP3 NM_014009.3(FOXP3):c.434C>T (p.Ala145Val)SNV Likely pathogenic 211045 rs782528935 X:49113904-49113904 X:49257447-49257447
18 FOXP3 NM_014009.3(FOXP3):c.210+1G>TSNV Likely pathogenic 575607 rs886041596 X:49114752-49114752 X:49258295-49258295
19 FOXP3 NM_001114377.2(FOXP3):c.1165_1167delinsC (p.Cys389fs)indel Likely pathogenic 569686 rs1569529565 X:49107819-49107821 X:49251358-49251360
20 FOXP3 NM_014009.3(FOXP3):c.694T>G (p.Cys232Gly)SNV Likely pathogenic 578790 rs1569529715 X:49112217-49112217 X:49255756-49255756
21 FOXP3 NM_014009.3(FOXP3):c.1040G>A (p.Arg347His)SNV Likely pathogenic 647073 X:49109591-49109591 X:49253130-49253130
22 FOXP3 NM_014009.3(FOXP3):c.736-1G>ASNV Likely pathogenic 666579 X:49111971-49111971 X:49255510-49255510
23 FOXP3 NM_014009.3(FOXP3):c.1222G>A (p.Val408Met)SNV Conflicting interpretations of pathogenicity 435255 rs1557115532 X:49107869-49107869 X:49251408-49251408
24 FOXP3 NM_014009.3(FOXP3):c.340C>T (p.Arg114Trp)SNV Conflicting interpretations of pathogenicity 435256 rs200554980 X:49113998-49113998 X:49257541-49257541
25 FOXP3 NM_014009.4(FOXP3):c.168_170CTC[1] (p.Ser60del)short repeat Conflicting interpretations of pathogenicity 791688 rs781861708 X:49114790-49114792 X:49258333-49258335
26 FOXP3 NM_014009.4(FOXP3):c.*878A>GSNV Uncertain significance 859614 X:49106917-49106917 X:49250456-49250456
27 FOXP3 NM_014009.4(FOXP3):c.1073G>A (p.Arg358Gln)SNV Uncertain significance 854732 X:49108198-49108198 X:49251737-49251737
28 FOXP3 NM_014009.4(FOXP3):c.1044G>T (p.Trp348Cys)SNV Uncertain significance 850779 X:49109587-49109587 X:49253126-49253126
29 FOXP3 NM_014009.4(FOXP3):c.1031C>A (p.Thr344Lys)SNV Uncertain significance 834207 X:49109600-49109600 X:49253139-49253139
30 FOXP3 NM_014009.4(FOXP3):c.926G>A (p.Arg309Gln)SNV Uncertain significance 850696 X:49110419-49110419 X:49253958-49253958
31 FOXP3 NM_014009.4(FOXP3):c.506G>A (p.Cys169Tyr)SNV Uncertain significance 846441 X:49113418-49113418 X:49256961-49256961
32 FOXP3 NM_014009.3(FOXP3):c.1247A>T (p.Lys416Ile)SNV Uncertain significance 581555 rs1569529568 X:49107844-49107844 X:49251383-49251383
33 FOXP3 NM_014009.3(FOXP3):c.928A>G (p.Arg310Gly)SNV Uncertain significance 660205 X:49110417-49110417 X:49253956-49253956
34 FOXP3 NM_014009.3(FOXP3):c.631C>T (p.Pro211Ser)SNV Uncertain significance 664422 X:49113224-49113224 X:49256767-49256767
35 FOXP3 NM_014009.3(FOXP3):c.542G>T (p.Ser181Ile)SNV Uncertain significance 650659 X:49113382-49113382 X:49256925-49256925
36 FOXP3 NM_014009.3(FOXP3):c.337G>T (p.Ala113Ser)SNV Uncertain significance 643578 X:49114001-49114001 X:49257544-49257544
37 FOXP3 NM_014009.3(FOXP3):c.140G>T (p.Gly47Val)SNV Uncertain significance 576632 rs1432262933 X:49114823-49114823 X:49258366-49258366
38 FOXP3 NM_014009.3(FOXP3):c.551C>T (p.Ser184Leu)SNV Uncertain significance 626108 rs140222626 X:49113304-49113304 X:49256847-49256847
39 FOXP3 NM_014009.3(FOXP3):c.984G>A (p.Met328Ile)SNV Uncertain significance 460309 rs367860281 X:49109647-49109647 X:49253186-49253186
40 FOXP3 NM_014009.3(FOXP3):c.1036A>G (p.Ile346Val)SNV Uncertain significance 529766 rs1557115789 X:49109595-49109595 X:49253134-49253134
41 FOXP3 NM_014009.3(FOXP3):c.773C>T (p.Ala258Val)SNV Uncertain significance 529768 rs369698589 X:49111933-49111933 X:49255472-49255472
42 FOXP3 NM_014009.3(FOXP3):c.1129C>G (p.His377Asp)SNV Uncertain significance 529767 rs1557115591 X:49108142-49108142 X:49251681-49251681
43 FOXP3 NM_014009.4(FOXP3):c.1248A>T (p.Lys416Asn)SNV Likely benign 833808 X:49107843-49107843 X:49251382-49251382
44 FOXP3 NM_014009.3(FOXP3):c.324G>A (p.Thr108=)SNV Benign/Likely benign 435252 rs111856931 X:49114014-49114014 X:49257557-49257557
45 FOXP3 NM_014009.4(FOXP3):c.543C>T (p.Ser181=)SNV Benign/Likely benign 129111 rs2232367 X:49113312-49113312 X:49256855-49256855
46 FOXP3 NM_014009.4(FOXP3):c.155G>T (p.Gly52Val)SNV Benign 712945 X:49114808-49114808 X:49258351-49258351
47 FOXP3 NM_014009.4(FOXP3):c.361C>T (p.His121Tyr)SNV Benign 733194 X:49113977-49113977 X:49257520-49257520
48 FOXP3 NM_014009.4(FOXP3):c.495G>A (p.Pro165=)SNV Benign 797306 X:49113429-49113429 X:49256972-49256972
49 FOXP3 NM_014009.4(FOXP3):c.176C>GSNV Benign 549556 rs199917616 X:49114787-49114787 X:49258330-49258330
50 FOXP3 NM_014009.4(FOXP3):c.624C>T (p.Phe208=)SNV Benign 775782 X:49113231-49113231 X:49256774-49256774

UniProtKB/Swiss-Prot genetic disease variations for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:

73
# Symbol AA change Variation ID SNP ID
1 FOXP3 p.Phe371Cys VAR_011331 rs122467169
2 FOXP3 p.Ala384Thr VAR_011332 rs122467170
3 FOXP3 p.Arg397Trp VAR_011333 rs28935477
4 FOXP3 p.Ile363Val VAR_023569
5 FOXP3 p.Leu242Pro VAR_078971
6 FOXP3 p.Phe324Leu VAR_078972 rs122467173
7 FOXP3 p.Pro339Ala VAR_078973 rs886044787
8 FOXP3 p.Arg347His VAR_078974
9 FOXP3 p.Phe373Ala VAR_078975 rs122467172
10 FOXP3 p.Phe374Cys VAR_078976

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Expression for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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Search GEO for disease gene expression data for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked.
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Pathways for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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Pathways related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked according to KEGG:

36
# Name Kegg Source Accession
1 Th17 cell differentiation hsa04659
2 Inflammatory bowel disease (IBD) hsa05321

Pathways related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked according to GeneCards Suite gene sharing:

(show all 49)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 14.07 TNFRSF18 STAT5B IL7R IL4 IL2RA IL2
2
ERK Signaling 63
Show member pathways
 13.87 TNFRSF18 STAT5B IL7R IL4 IL2RA IL2
3
PEDF Induced Signaling 63
Show member pathways
 13.72 TNFRSF18 STAT5B IL7R IL4 IL2RA IL2
4
TGF-Beta Pathway 63
Show member pathways
 13.56 TNFRSF18 STAT5B IL7R IL4 IL2RA IL2
5
Cytokine Signaling in Immune system 65
Show member pathways
 13.41 TNFRSF18 STAT5B IL7R IL4 IL2RA IL2
6
Akt Signaling 63
Show member pathways
 13.34 TNFRSF18 STAT5B IL7R IL4 IL2RA IL2
7
PAK Pathway 63
Show member pathways
 13.3 TNFRSF18 IL7R IL4 IL2RA IL2 IL17A
8
Pathways in cancer 36
12.83 STAT5B IL7R IL4 IL2RA IL2
9
Measles 36
Show member pathways
 12.8 STAT5B IL2RA IL2 ENTPD1 CD28
10
Allograft rejection 1 36
Show member pathways
 12.8 IL4 IL2RA IL2 IL17A IL10 ICOSLG
11
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 64
Show member pathways
 12.77 STAT5B IL7R IL4 IL2RA IL2
12
Immune response NFAT in immune response 22
Show member pathways
 12.7 IL4 IL2RA IL2 IL10 ICOSLG CD4
13
Immune response IL-23 signaling pathway 22
Show member pathways
 12.6 STAT5B IL2 IL17A IL10 CD4
14
Th17 cell differentiation 36
Show member pathways
 12.56 STAT5B IL4 IL2RA IL2 IL17A IL10
15
T cell receptor signaling pathway 36
Show member pathways
 12.55 IL4 IL2 IL17A IL10 CTLA4 CD8A
16
JAK-STAT signaling pathway 36
Show member pathways
 12.53 STAT5B IL7R IL4 IL2RA IL2 IL10
17
ICos-ICosL Pathway in T-Helper Cell 63
Show member pathways
 12.47 IL2RA IL2 ICOSLG CTLA4 CD4 CD28
18
Human T-cell leukemia virus 1 infection 36
12.33 STAT5B IL2RA IL2 CD4
19
Chemokine Superfamily: Human/Mouse Ligand-Receptor Interactions 64
Show member pathways
 12.32 IL2RA IL2 IL10 CCR6
20
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.28 IL4 IL2RA IL2 IL17A IL10
21
CD28 co-stimulation 65
Show member pathways
 12.22 ICOSLG CTLA4 CD4 CD28
22
NF-kappaB Signaling 4
12.21 TNFRSF18 STAT5B IL4 IL2RA IL2 IL17A
23
Cell adhesion molecules (CAMs) 36
12.2 ICOSLG CTLA4 CD8A CD4 CD28
24
Jak Stat Signaling Pathway 66
Show member pathways
 12.12 STAT5B IL7R IL4 IL2RA IL2
25
IL12-mediated signaling events 1
Show member pathways
 12.07 IL4 IL2RA IL2 CD8A CD4
26
Hematopoietic cell lineage 36
11.98 IL7R IL4 IL2RA CD8A CD4
27
IL27-mediated signaling events 1
Show member pathways
 11.94 STAT5B IL2 IL17A IL10 CD4 CD28
28
Th17 Differentiation 64
Show member pathways
 11.92 STAT5B IL4 IL17A CD4 CD28
29
Hematopoietic Stem Cells and Lineage-specific Markers 64
11.92 IL7R IL4 IL2RA IL2 IL10 CD8A
30
Rheumatoid arthritis 36
11.85 IL17A CTLA4 CD28
31
CTLA4 Signaling 63
11.81 CTLA4 CD8A CD4 CD28
32
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.8 IL4 IL2RA IL2 FOXP3 CTLA4
33
Glucocorticoid receptor regulatory network 1
11.79 STAT5B IL4 IL2
34
Dendritic Cells Developmental Lineage Pathway 64
11.78 IL7R IL2 IL10 CD8A CD4
35
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.73 TNFRSF18 IL2RA IL2 CD8A
36
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.7 STAT5B IL4 IL2RA IL2 FOXP3
37
IL4-mediated signaling events 1
11.66 STAT5B IL4 IL10
38
Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway 1
11.53 STAT5B IL7R IL2RA
39
IL-7 Signaling Pathway 1
Show member pathways
 11.5 STAT5B IL7R IL2RA
40
Primary immunodeficiency 36
11.5 IL7R CD8A CD4 AIRE
41
IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types 64
Show member pathways
 11.46 IL2RA IL2 IL10 FOXP3
42
Inflammatory Response Pathway 1
11.41 IL4 IL2RA IL2 CD28
43
T-Cell Receptor and Co-stimulatory Signaling 1
11.37 IL2 CTLA4 CD8A CD28
44
Th2 Differentiation 64
11.36 IL4 IL2RA IL2 IL10 FOXP3 CD4
45
Cytokines and Inflammatory Response 1
11.32 IL4 IL2 IL10 CD4
46
IL12 signaling mediated by STAT4 1
11.3 IL2RA IL2 CD4 CD28
47
OX40 Pathway 63
11.25 IL4 IL2 IL10
48
Telomere Extension by Telomerase 63
Show member pathways
 11.2 STAT5B IL2RA IL2
49
Innate Lymphoid Cells Differentiation 64
11.18 IL7R IL4 IL2RA IL2 IL17A IL10
Sources

GO Terms for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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Cellular components related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.32 TNFRSF18 IL7R IL2RA IL17A ICOSLG CTLA4
2 protein complex involved in cell adhesion GO:0098636 8.96 CTLA4 CD28

Biological processes related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.18 STAT5B IL4 IL2 IL17A IL10 FOXP3
2 immune system process GO:0002376 10.11 IL2RA IL2 ICOSLG CTLA4 CD8A CD4
3 negative regulation of apoptotic process GO:0043066 10.07 TNFRSF18 STAT5B IL4 IL2 IL10 CD28
4 adaptive immune response GO:0002250 10.04 IL2 ICOSLG CTLA4 CD8A CD4
5 cell surface receptor signaling pathway GO:0007166 10 IL7R IL2RA CD8A CD4 CD28
6 T cell receptor signaling pathway GO:0050852 9.95 ICOSLG FOXP3 CTLA4 CD4 CD28
7 negative regulation of inflammatory response GO:0050728 9.88 IL4 IL2RA IL2 IL10 FOXP3
8 cytokine-mediated signaling pathway GO:0019221 9.87 STAT5B IL4 IL2RA IL2 IL17A IL10
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.83 TNFRSF18 IL4 IL2
10 humoral immune response GO:0006959 9.81 CD28 CCR6 AIRE
11 T cell costimulation GO:0031295 9.8 ICOSLG CTLA4 CD28
12 T cell differentiation GO:0030217 9.79 IL7R IL2 CD4
13 T cell homeostasis GO:0043029 9.76 STAT5B IL2RA FOXP3
14 positive regulation of T cell differentiation GO:0045582 9.73 IL4 IL2RA IL2
15 negative regulation of T cell proliferation GO:0042130 9.73 IL2RA IL10 FOXP3 CTLA4
16 negative regulation of immune response GO:0050777 9.71 IL2RA FOXP3 CTLA4
17 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.7 STAT5B CD4 CD28
18 interleukin-2-mediated signaling pathway GO:0038110 9.69 STAT5B IL2RA IL2
19 positive regulation of regulatory T cell differentiation GO:0045591 9.68 IL2 FOXP3
20 regulation of T cell proliferation GO:0042129 9.67 CTLA4 CD28
21 interleukin-15-mediated signaling pathway GO:0035723 9.67 STAT5B CD4
22 negative thymic T cell selection GO:0045060 9.67 CD28 AIRE
23 positive regulation of isotype switching to IgG isotypes GO:0048304 9.67 IL4 IL2 CD28
24 positive regulation of activated T cell proliferation GO:0042104 9.67 STAT5B IL2RA IL2 ICOSLG
25 negative regulation of tumor necrosis factor biosynthetic process GO:0042536 9.66 IL4 IL10
26 T cell mediated immunity GO:0002456 9.66 FOXP3 CD8A
27 positive regulation of MHC class II biosynthetic process GO:0045348 9.65 IL4 IL10
28 negative regulation of T cell apoptotic process GO:0070233 9.65 IL7R DOCK8
29 positive regulation of T cell proliferation GO:0042102 9.65 IL4 IL2RA IL2 CD4 CD28
30 type 2 immune response GO:0042092 9.63 IL4 IL10
31 negative regulation of T-helper 17 cell differentiation GO:2000320 9.63 IL4 IL2 FOXP3
32 T cell activation GO:0042110 9.63 IL4 ICOSLG FOXP3 CD8A CD4 CD28
33 regulation of isotype switching GO:0045191 9.62 IL4 IL10
34 negative regulation of chronic inflammatory response GO:0002677 9.62 IL4 FOXP3
35 regulation of T cell homeostatic proliferation GO:0046013 9.6 IL2RA IL2
36 negative regulation of lymphocyte proliferation GO:0050672 9.58 IL2RA IL2 FOXP3
37 regulation of regulatory T cell differentiation GO:0045589 9.43 TNFRSF18 IL2RA IL2 FOXP3 CTLA4 CD28
38 immune response GO:0006955 9.4 IL7R IL4 IL2RA IL2 IL17A IL10

Molecular functions related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.62 TNFRSF18 STAT5B LRBA IL7R IL4 IL2RA
2 cytokine activity GO:0005125 9.46 IL4 IL2 IL17A IL10
3 coreceptor activity GO:0015026 9.13 CD8A CD4 CD28
Sources

Sources for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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