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IPEX
MCID: IMM106
MIFTS: 77

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 57 12 13 40
Immunodeficiency 24 29 55 6 40
Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked 57 12 53 25
Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome 25 29 6 73
X-Linked Autoimmunity-Allergic Dysregulation Syndrome 57 12 53 25
Ipex Syndrome 24 53 25 37
Xlaad 57 12 53 25
Ipex 57 12 59 75
Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea 57 12 25
Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy 57 53 25
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome 12 59 15
Autoimmunity-Immunodeficiency Syndrome, X-Linked 57 12 25
Iddm-Secretory Diarrhea Syndrome 57 12 25
Dmsd 57 12 53
Xpid 57 12 53
Immunodeficiency, Polyendocrinopathy, and Enteropathy, X-Linked 12 25
Polyendocrinopathy, Immune Dysfunction, and Diarrhea, X-Linked 57 25
Autoimmune Enteropathy Type 1 12 59
Immunodeficiency, Polyendocrinopathy, and Enteropathy, X-Linked, Formerly 57
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 57
Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome 75
Immunodysregulation, Polyendocrinopathy and Enteropathy X-Linked 53
X-Linked Autoimmunity-Allergic Dysregulation Syndrome; Xlaad 57
Polyendocrinopathy, Immune Dysfunction and Diarrhea X-Linked 53
Polyendocrinopathy,enteropathy X-Linked Syndrome 24
Autoimmunity-Immunodeficiency Syndrome X-Linked 53
X-Linked Autoimmunity-Immunodeficiency Syndrome 75
Iddm-Secretory Diarrhea Syndrome; Dmsd 57
Iddm Secretory Diarrhea Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
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:

57
Miscellaneous:
variable severity
death usually occurs in infancy or childhood if untreated

Inheritance:
x-linked recessive


HPO:

32
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: 33 34
Orphanet: 59  
Rare gastroenterological diseases
Rare endocrine diseases
Rare immunological diseases


External Ids:

OMIM 57 304790
Disease Ontology 12 DOID:0090110
ICD10 33 E31.0
Orphanet 59 ORPHA37042
ICD10 via Orphanet 34 E31.0
UMLS via Orphanet 74 C0342288
KEGG 37 H01971
UMLS 73 C0342288
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Summaries for Immunodysregulation, Polyendocrinopathy, and Enteropathy,...

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NIH Rare Diseases : 53 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.  

MalaCards based summary : Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked, also known as immunodeficiency, is related to combined t cell and b cell immunodeficiency and common variable immunodeficiency, 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 Fludarabine and Thiotepa have been mentioned in the context of this disorder. Affiliated tissues include testes, t cells and bone, and related phenotypes are diabetes mellitus and hypothyroidism

Disease Ontology : 12 An autoimmune hypersensitivity disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material basis in mutation in the FOXP3 gene on chromosome Xp11.

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.

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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 : 76 IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked) syndrome is a rare disease linked to... 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 1616)
# Related Disease Score Top Affiliating Genes
1 combined t cell and b cell immunodeficiency 34.0 IL2 IL7R RAG2
2 common variable immunodeficiency 33.9 CD40LG FOXP3 IL10 IL2 IL2RA SH2D1A
3 acquired immunodeficiency syndrome 33.8 CCR5 CD4 IL10 IL2 IL2RA ITIH4
4 human immunodeficiency virus infectious disease 33.6 CCR5 CD4 CXCR4 IL10 IL2 ITIH4
5 omenn syndrome 33.3 FOXP3 IL10 IL7R RAG2
6 human immunodeficiency virus type 1 33.3 APOBEC3F CCR5 CD4 CD9 CXCR4 ERVK-6
7 agammaglobulinemia, x-linked 33.3 CD40LG IL2 SH2D1A WAS
8 immune deficiency disease 33.2 CD40LG IL10 IL2 IL2RA RAG2 SH2D1A
9 autoimmune enteropathy 32.4 FOXP3 IL2RA
10 viral infectious disease 31.3 CCR5 CD4 CD40LG CXCR4 IL10 IL2
11 leishmaniasis 30.7 CCR5 FOXP3 IL10 IL2
12 toxoplasmosis 30.6 CCR5 CD40LG IL10
13 visceral leishmaniasis 30.6 FOXP3 IL10 IL2
14 autoimmune disease 30.3 CD40LG FOXP3 IL10 IL2 IL2RA
15 lymphoma, non-hodgkin, familial 30.3 ATM CXCR4 IL2 IL2RA SH2D1A
16 rheumatoid arthritis 30.2 CD40LG FOXP3 IL10 IL2 IL2RA
17 lymphopenia 30.2 FOXP3 IL2 IL2RA IL7R
18 schistosomiasis 30.1 CD40LG IL10 IL2
19 systemic lupus erythematosus 30.1 CCR5 CD40LG FOXP3 IL10 IL2 IL2RA
20 acute graft versus host disease 30.0 IL10 IL2 IL2RA
21 adult t-cell leukemia 30.0 FOXP3 IL2 IL2RA
22 sporotrichosis 30.0 CD40LG IL10
23 chagas disease 30.0 CCR5 IL10 IL2
24 leukemia, chronic lymphocytic 30.0 ATM CD40LG CXCR4 IL2 IL2RA
25 hemophagocytic lymphohistiocytosis 30.0 IL10 IL2RA SH2D1A
26 multiple sclerosis 29.9 CCR5 FOXP3 IL10 IL2 IL2RA IL7R
27 diphtheria 29.9 CD9 IL2 IL2RA
28 tetanus 29.8 CD40LG IL10 IL2 IL2RA
29 intestinal disease 29.8 FOXP3 IL10 IL2
30 buruli ulcer 29.7 CD40LG IL10 WAS
31 autoimmune lymphoproliferative syndrome 29.7 IL10 IL2 IL2RA
32 dermatitis, atopic 29.7 FOXP3 IL10 IL2 IL2RA WAS
33 demyelinating disease 29.7 CD40LG IL10 IL7R
34 pulmonary sarcoidosis 29.7 CCR5 IL2 IL2RA
35 rheumatic disease 29.6 CD40LG IL10 IL2RA
36 tropical spastic paraparesis 29.4 FOXP3 IL10 IL2 IL2RA
37 brucellosis 29.4 CD40LG IL10 IL2 IL2RA
38 severe combined immunodeficiency, x-linked 12.5
39 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 12.5
40 severe combined immunodeficiency 12.5
41 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 12.5
42 severe combined immunodeficiency with sensitivity to ionizing radiation 12.5
43 immunodeficiency with hyper-igm, type 1 12.5
44 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 12.4
45 immunodeficiency, common variable, 10 12.4
46 immunodeficiency-centromeric instability-facial anomalies syndrome 1 12.4
47 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 12.4
48 hepatic venoocclusive disease with immunodeficiency 12.4
49 immunodeficiency-centromeric instability-facial anomalies syndrome 2 12.4
50 immunodeficiency 18 12.4

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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Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypothyroidism
insulin-dependent diabetes mellitus (type i)

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

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

Hematology:
thrombocytopenia
eosinophilia
hemolytic anemia, autoimmune

Skin Nails Hair Skin:
eczema
atopy


Clinical features from OMIM:

304790

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 hypothyroidism 32 HP:0000821
3 type i diabetes mellitus 32 HP:0100651
4 thrombocytopenia 32 HP:0001873
5 ileus 32 HP:0002595
6 diarrhea 32 HP:0002014
7 eczema 32 HP:0000964
8 lymphadenopathy 32 HP:0002716
9 eosinophilia 32 HP:0001880
10 autoimmune hemolytic anemia 32 HP:0001890
11 villous atrophy 32 HP:0011473
12 immune dysregulation 32 HP:0002958

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


diarrhea

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

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 ATM CCR5 CD4 CD40LG CD9 CXCR4
2 hematopoietic system MP:0005397 10.31 ATM CCR5 CD4 CD40LG CD9 CXCR4
3 immune system MP:0005387 10.22 ATM CCR5 CD4 CD40LG CD9 CXCR4
4 homeostasis/metabolism MP:0005376 10.21 ATM CCR5 CD4 CD40LG CXCR4 FOXP3
5 endocrine/exocrine gland MP:0005379 10.17 ATM CD4 CD40LG CXCR4 FOXP3 IL10
6 cardiovascular system MP:0005385 10.15 ATM CCR5 CD40LG CXCR4 FOXP3 IL10
7 digestive/alimentary MP:0005381 10.11 CCR5 CD4 CXCR4 FOXP3 IL10 IL2
8 mortality/aging MP:0010768 10.03 ATM CCR5 CD4 CD40LG CXCR4 FOXP3
9 neoplasm MP:0002006 9.9 ATM CCR5 CXCR4 IL10 IL2 IL7R
10 reproductive system MP:0005389 9.61 ATM CCR5 CD40LG CD9 CXCR4 FOXP3
11 respiratory system MP:0005388 9.17 CD9 CXCR4 FOXP3 IL10 IL2 IL2RA
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 all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
2
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
3
alemtuzumab Approved, Investigational Phase 2 216503-57-0
4
Melphalan Approved Phase 2 148-82-3 4053 460612
5
Hydroxyurea Approved Phase 2 127-07-1 3657
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
8
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
9
Mycophenolic acid Approved Phase 2 24280-93-1 446541
10
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
11
leucovorin Approved Phase 2 58-05-9 6006 143
12
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
14
Treosulfan Investigational Phase 2 299-75-2 9296
15 Antineoplastic Agents, Alkylating Phase 2
16 Antimetabolites Phase 2
17 Immunologic Factors Phase 2
18 Antimetabolites, Antineoplastic Phase 2
19 Immunosuppressive Agents Phase 2
20 Alkylating Agents Phase 2
21 Nucleic Acid Synthesis Inhibitors Phase 2
22 Antitubercular Agents Phase 2
23 Anti-Bacterial Agents Phase 2
24 Folate Phase 2
25 Anti-Infective Agents Phase 2
26 Calcineurin Inhibitors Phase 2
27 Folic Acid Antagonists Phase 2
28 Vidarabine Phosphate Phase 2
29 Antilymphocyte Serum Phase 2
30 Antibiotics, Antitubercular Phase 2
31 Thymoglobulin Phase 2
32 Vitamin B Complex Phase 2
33 Antiviral Agents Phase 2
34 Antifungal Agents Phase 2
35 Dermatologic Agents Phase 2
36 Antirheumatic Agents Phase 2
37 Cyclosporins Phase 2
38 Vitamin B9 Phase 2
39 Antibodies, Monoclonal Phase 2
40 Antibodies Phase 2
41 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
2 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
3 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 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
4 Expanded Access Protocol Using CD3+/CD19+ Depleted PBSC Recruiting NCT02356653 Early Phase 1
5 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912

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

Inferred drug relations via UMLS 73 / NDF-RT 51 :
Sources

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 29
3 X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea 29
4 Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome 29
Sources

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

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

41
Testes, T Cells, Bone, Bone Marrow, Skin, Liver, Lung
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 908)
# Title Authors Year
1
Human pegivirus isolates characterized by deep sequencing from hepatitis C virus-RNA and human immunodeficiency virus-RNA-positive blood donations, France. ( 30133782 )
2019
2
Cumulative Human Immunodeficiency Viremia, Antiretroviral Therapy, and Incident Myocardial Infarction. ( 30273188 )
2019
3
Severe bilateral knee osteonecrosis in a young man with human immunodeficiency virus. ( 30425776 )
2019
4
Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned. ( 30466767 )
2019
5
The use of octagam and gammanorm in immunodeficiency associated with hematological malignancies: a prospective study from 21 French hematology departments. ( 30458690 )
2019
6
Update on Advances in Hematopoietic Cell Transplantation for Primary Immunodeficiency Disorders. ( 30466768 )
2019
7
Genetic Testing to Diagnose Primary Immunodeficiency Disorders and to Identify Targeted Therapy. ( 30466769 )
2019
8
Gastrointestinal Manifestations and Complications of Primary Immunodeficiency Disorders. ( 30466774 )
2019
9
Diagnosis and Management of Primary Immunodeficiency Disorders: The Pieces of the Puzzle Are Starting to Fit Together. ( 30466776 )
2019
10
Primary Immunodeficiency Disorders. ( 30466777 )
2019
11
Diagnosis of Human Immunodeficiency Virus Infection. ( 30487166 )
2019
12
Intrapartum Management of Women With Human Immunodeficiency Virus Infection. ( 30531590 )
2019
13
Herpes vegetans in a human immunodeficiency virus-negative kidney transplant patient. ( 30259552 )
2019
14
A case of Metaplastic atrophic gastritis in immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome. ( 29907148 )
2018
15
Fatal disseminated cytomegalovirus infection with necrotizing oophoritis in a patient with acquired immunodeficiency syndrome. ( 30101134 )
2018
16
Consecutive hypoglycemia attacks induced by co-trimoxazole followed by pentamidine in a patient with acquired immunodeficiency syndrome. ( 30170528 )
2018
17
Prevalence and factors associated with the use of traditional medicines among human immunodeficiency virus and acquired immunodeficiency syndrome patients in Sokoto, Nigeria. ( 30185681 )
2018
18
Cardiac complications in people living with human immunodeficiency virus/acquired immunodeficiency syndrome and their association with CD4+ T-cell count - A cross sectional study. ( 30187022 )
2018
19
Successful prevention of perinatal HIV transmission utilizing direct observation therapy in the setting of Acquired Immunodeficiency Syndrome (AIDS) and progressive multifocal leukoencephalopathy. ( 30245972 )
2018
20
Functional capacity and ventilatory efficiency are preserved in well-controlled people living with human immunodeficiency virus/acquired immunodeficiency syndrome. ( 30276193 )
2018
21
Blood pressure responses after resistance exercise session in women living with human immunodeficiency virus/acquired immunodeficiency syndrome. ( 30276194 )
2018
22
Adult T-cell leukemia/lymphoma and acquired immunodeficiency syndrome - CD4+ T-cell malignancy in CD4+ T-cell deficient status: A paradox. ( 30303147 )
2018
23
Prevalence of arterial hypertension and risk factors among people with acquired immunodeficiency syndrome. ( 30379250 )
2018
24
Endoscopic resection using argon plasma coagulation for treating esophageal mucosal bridge in a patient with acquired immunodeficiency syndrome. ( 30460905 )
2018
25
Restriction Fragment Length Polymorphism-based Genotyping of Toxoplasma gondii from Autopsy-Proven Cases of Acquired Immunodeficiency Syndrome-associated Cerebral Toxoplasmosis. ( 30532352 )
2018
26
Acute annular outer retinopathy associated with human immunodeficiency virus. ( 30455116 )
2018
27
A severe combined immunodeficiency disease mouse model of human adenocarcinoma with lepidic-predominant growth. ( 30287185 )
2018
28
Successful Treatment With Ledipasvir/Sofosbuvir in an Infant With Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency With HCV Allowed Gene Therapy with Strimvelis. ( 30014500 )
2018
29
Strimvelis® for Treating Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency: An Evidence Review Group Perspective of a NICE Highly Specialised Technology Evaluation. ( 30334168 )
2018
30
Direct and Indirect Costs of Immunoglobulin Replacement Therapy in Patients with Common Variable Immunodeficiency (CVID) and X-Linked Agammaglobulinemia (XLA) in Italy. ( 30191508 )
2018
31
Chronic Human Immunodeficiency Virus Infection With and Without Comorbidities Appears to Converge Toward Early Pathological Brain Aging. ( 30297029 )
2018
32
Immunodeficiency in a Child with Alström Syndrome. ( 30155784 )
2018
33
Brentuximab vedotin in multifocal cutaneous anaplastic large cell lymphoma in a patient with human immunodeficiency virus following Hodgkin lymphoma. ( 30430604 )
2018
34
A smart nanosensor for the detection of human immunodeficiency virus and associated cardiovascular and arthritis diseases using functionalized graphene-based transistors. ( 30557838 )
2018
35
Bronchial Asthma and Bronchial Hyperresponsiveness and Their Characteristics in Patients with Common Variable Immunodeficiency. ( 30458444 )
2018
36
EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency. ( 30386345 )
2018
37
Impact of Standard Bacterial Vaginosis Treatment on the Genital Microbiota, Immune Milieu, and Ex Vivo Human Immunodeficiency Virus Susceptibility. ( 30407498 )
2018
38
Multiple cranial nerve palsies in immunodeficiency subtype of Burkitt lymphoma. ( 30357018 )
2018
39
Use of a Sentinel Lymph Node Biopsy Algorithm in a South African Population of Patients With Cervical Cancer and High Prevalence of Human Immunodeficiency Virus Infection. ( 30036220 )
2018
40
Barriers and Facilitators to Cervical Cancer Screening, Diagnosis, Follow-Up Care and Treatment: Perspectives of Human Immunodeficiency Virus-Positive Women and Health Care Practitioners in Tanzania. ( 29934410 )
2018
41
Incidence of cervical intraepithelial neoplasia in women infected with human immunodeficiency virus (HIV) with no evidence of disease at baseline: Results of a prospective cohort study with up to 6.4 years of follow-up from India. ( 30132840 )
2018
42
Extragenital Chlamydia and Gonorrhea in Young Black Men Who Have Sex With Men: Missed Treatment Opportunities for Human Immunodeficiency Virus-Infected Men Who Have Sex With Men? ( 29465695 )
2018
43
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. ( 29477724 )
2018
44
Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses. ( 29935219 )
2018
45
Gluten-free diet: a possible treatment for chronic diarrhoea in common variable immunodeficiency. ( 29991548 )
2018
46
A Novel Hypothesis on Excessive Activation of Residual B Lymphocytes in Common Variable Immunodeficiency Concurrent with Aseptic, Erosive Polyarthritis. ( 30011399 )
2018
47
Prosthetically Driven Therapy for a Patient with Systemic Lupus Erythematosus and Common Variable Immunodeficiency: A Case Report. ( 30036142 )
2018
48
A 56-Year-Old-Man With Common Variable Immunodeficiency and Worsening Dyspnea. ( 30044751 )
2018
49
Lung nodules in a patient with common variable immunodeficiency. ( 30060883 )
2018
50
Comparison of the Percentage of Regulatory T cells and their p-STAT5 Expression in Allergic and Non-Allergic Common Variable Immunodeficiency Patients. ( 30064289 )
2018
Sources

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

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

75
# 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

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

6 (show top 50) (show all 123)
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXP3 NM_014009.3(FOXP3): c.1189C> T (p.Arg397Trp) single nucleotide variant Pathogenic rs28935477 GRCh37 Chromosome X, 49107902: 49107902
2 FOXP3 NM_014009.3(FOXP3): c.1189C> T (p.Arg397Trp) single nucleotide variant Pathogenic rs28935477 GRCh38 Chromosome X, 49251441: 49251441
3 FOXP3 FOXP3, 20-BP DEL, 3-BP INS, NT1290 indel Pathogenic
4 FOXP3 NM_014009.3(FOXP3): c.1112T> G (p.Phe371Cys) single nucleotide variant Pathogenic rs122467169 GRCh37 Chromosome X, 49108159: 49108159
5 FOXP3 NM_014009.3(FOXP3): c.1112T> G (p.Phe371Cys) single nucleotide variant Pathogenic rs122467169 GRCh38 Chromosome X, 49251698: 49251698
6 FOXP3 NM_014009.3(FOXP3): c.1150G> A (p.Ala384Thr) single nucleotide variant Pathogenic rs122467170 GRCh37 Chromosome X, 49107941: 49107941
7 FOXP3 NM_014009.3(FOXP3): c.1150G> A (p.Ala384Thr) single nucleotide variant Pathogenic rs122467170 GRCh38 Chromosome X, 49251480: 49251480
8 FOXP3 FOXP3, 2-BP DEL, 1481CT deletion Pathogenic
9 FOXP3 FOXP3, IVS9DS, A-G, +4 single nucleotide variant Pathogenic
10 FOXP3 NM_014009.3(FOXP3): c.750_752delGGA (p.Glu251del) deletion Pathogenic rs122467171 GRCh37 Chromosome X, 49111954: 49111956
11 FOXP3 NM_014009.3(FOXP3): c.750_752delGGA (p.Glu251del) deletion Pathogenic rs122467171 GRCh38 Chromosome X, 49255493: 49255495
12 FOXP3 FOXP3, 1-BP DEL deletion Pathogenic
13 FOXP3 NM_014009.3(FOXP3): c.1117_1118delTTinsGC (p.Phe373Ala) indel Pathogenic rs122467172 GRCh37 Chromosome X, 49108153: 49108154
14 FOXP3 NM_014009.3(FOXP3): c.1117_1118delTTinsGC (p.Phe373Ala) indel Pathogenic rs122467172 GRCh38 Chromosome X, 49251692: 49251693
15 FOXP3 NM_014009.3(FOXP3): c.970T> C (p.Phe324Leu) single nucleotide variant Pathogenic rs122467173 GRCh37 Chromosome X, 49109661: 49109661
16 FOXP3 NM_014009.3(FOXP3): c.970T> C (p.Phe324Leu) single nucleotide variant Pathogenic rs122467173 GRCh38 Chromosome X, 49253200: 49253200
17 FOXP3 FOXP3, 543C-T single nucleotide variant Pathogenic
18 FOXP3 NM_014009.3(FOXP3): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs122467174 GRCh37 Chromosome X, 49114960: 49114960
19 FOXP3 NM_014009.3(FOXP3): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs122467174 GRCh38 Chromosome X, 49258503: 49258503
20 FOXP3 NM_014009.3(FOXP3): c.1099T> C (p.Phe367Leu) single nucleotide variant Pathogenic rs122467175 GRCh37 Chromosome X, 49108172: 49108172
21 FOXP3 NM_014009.3(FOXP3): c.1099T> C (p.Phe367Leu) single nucleotide variant Pathogenic rs122467175 GRCh38 Chromosome X, 49251711: 49251711
22 SLC37A4 NM_001164277.1(SLC37A4): c.81T> A (p.Asn27Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193302889 GRCh37 Chromosome 11, 118899999: 118899999
23 SLC37A4 NM_001164277.1(SLC37A4): c.81T> A (p.Asn27Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193302889 GRCh38 Chromosome 11, 119029289: 119029289
24 FOXP3 NM_014009.3(FOXP3): c.543C> T (p.Ser181=) single nucleotide variant Benign/Likely benign rs2232367 GRCh37 Chromosome X, 49113312: 49113312
25 FOXP3 NM_014009.3(FOXP3): c.543C> T (p.Ser181=) single nucleotide variant Benign/Likely benign rs2232367 GRCh38 Chromosome X, 49256855: 49256855
26 FOXP3 NM_014009.3(FOXP3): c.727delG (p.Glu243Serfs) deletion Pathogenic rs797045588 GRCh38 Chromosome X, 49255723: 49255723
27 FOXP3 NM_014009.3(FOXP3): c.727delG (p.Glu243Serfs) deletion Pathogenic rs797045588 GRCh37 Chromosome X, 49112184: 49112184
28 FOXP3 NM_014009.3(FOXP3): c.434C> T (p.Ala145Val) single nucleotide variant Likely pathogenic rs782528935 GRCh38 Chromosome X, 49257447: 49257447
29 FOXP3 NM_014009.3(FOXP3): c.434C> T (p.Ala145Val) single nucleotide variant Likely pathogenic rs782528935 GRCh37 Chromosome X, 49113904: 49113904
30 FOXP3 NM_014009.3(FOXP3): c.1015C> G (p.Pro339Ala) single nucleotide variant Likely pathogenic rs886044787 GRCh37 Chromosome X, 49109616: 49109616
31 FOXP3 NM_014009.3(FOXP3): c.1015C> G (p.Pro339Ala) single nucleotide variant Likely pathogenic rs886044787 GRCh38 Chromosome X, 49253155: 49253155
32 ATM NM_000051.3(ATM): c.687delA (p.Asn230Ilefs) deletion Pathogenic rs1057518965 GRCh37 Chromosome 11, 108115539: 108115539
33 ATM NM_000051.3(ATM): c.687delA (p.Asn230Ilefs) deletion Pathogenic rs1057518965 GRCh38 Chromosome 11, 108244812: 108244812
34 FOXP3 NM_014009.3(FOXP3): c.1222G> A (p.Val408Met) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 49107869: 49107869
35 FOXP3 NM_014009.3(FOXP3): c.1222G> A (p.Val408Met) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 49251408: 49251408
36 NFAT5 NM_138714.3(NFAT5): c.1797G> A (p.Leu599=) single nucleotide variant Benign rs144343499 GRCh38 Chromosome 16, 69691904: 69691904
37 NFAT5 NM_138714.3(NFAT5): c.1797G> A (p.Leu599=) single nucleotide variant Benign rs144343499 GRCh37 Chromosome 16, 69725807: 69725807
38 NFAT5 NM_138714.3(NFAT5): c.3470A> G (p.Gln1157Arg) single nucleotide variant Benign rs145602190 GRCh38 Chromosome 16, 69693577: 69693577
39 NFAT5 NM_138714.3(NFAT5): c.3470A> G (p.Gln1157Arg) single nucleotide variant Benign rs145602190 GRCh37 Chromosome 16, 69727480: 69727480
40 NFAT5 NM_138714.3(NFAT5): c.2409_2411delACA (p.Gln812del) deletion Likely benign GRCh38 Chromosome 16, 69692516: 69692518
41 NFAT5 NM_138714.3(NFAT5): c.2409_2411delACA (p.Gln812del) deletion Likely benign GRCh37 Chromosome 16, 69726419: 69726421
42 NFAT5 NM_138714.3(NFAT5): c.3964C> T (p.Leu1322Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 69694071: 69694071
43 NFAT5 NM_138714.3(NFAT5): c.3964C> T (p.Leu1322Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 69727974: 69727974
44 NFAT5 NM_138714.3(NFAT5): c.148A> G (p.Ser50Gly) single nucleotide variant Likely benign rs148886916 GRCh37 Chromosome 16, 69681107: 69681107
45 NFAT5 NM_138714.3(NFAT5): c.148A> G (p.Ser50Gly) single nucleotide variant Likely benign rs148886916 GRCh38 Chromosome 16, 69647204: 69647204
46 NFAT5 NM_138714.3(NFAT5): c.3069T> C (p.Ile1023=) single nucleotide variant Benign rs61730073 GRCh37 Chromosome 16, 69727079: 69727079
47 NFAT5 NM_138714.3(NFAT5): c.3069T> C (p.Ile1023=) single nucleotide variant Benign rs61730073 GRCh38 Chromosome 16, 69693176: 69693176
48 NFAT5 NM_138714.3(NFAT5): c.3567_3569delACA (p.Gln1190del) deletion Likely benign GRCh37 Chromosome 16, 69727577: 69727579
49 NFAT5 NM_138714.3(NFAT5): c.3567_3569delACA (p.Gln1190del) deletion Likely benign GRCh38 Chromosome 16, 69693674: 69693676
50 NFAT5 NM_138714.3(NFAT5): c.2244G> A (p.Glu748=) single nucleotide variant Benign rs61730074 GRCh37 Chromosome 16, 69726254: 69726254
Sources

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:

37
# 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 30)
# Super pathways Score Top Affiliating Genes
1
Akt Signaling 64
Show member pathways
 13.34 CCR5 CD4 CD40LG CXCR4 IL10 IL2
2
Cytokine Signaling in Immune system 66
Show member pathways
 13.31 CCR5 CD4 CD40LG IL10 IL2 IL2RA
3
PAK Pathway 64
Show member pathways
 13.2 CCR5 CD4 CD40LG CXCR4 IL10 IL2
4
Allograft rejection 1 37
Show member pathways
 12.78 CD4 CD40LG CXCR4 FOXP3 IL10 IL2
5
Immune response NFAT in immune response 22
Show member pathways
 12.58 CD4 CD40LG IL10 IL2 IL2RA
6
Th17 cell differentiation 37
Show member pathways
 12.55 CD4 FOXP3 IL10 IL2 IL2RA
7
Human T-cell leukemia virus 1 infection 37
12.35 ATM IL2 IL2RA KAT5
8
ICos-ICosL Pathway in T-Helper Cell 64
Show member pathways
 12.34 CD4 CD40LG IL2 IL2RA WAS
9
Endocytosis 37
12.33 CCR5 CXCR4 IL2RA WAS
10
T cell receptor signaling pathway 37
Show member pathways
 12.32 CCR5 CD4 CD40LG IL10 IL2 WAS
11
NF-kappaB Signaling 4
12.32 CD40LG CXCR4 FOXP3 IL10 IL2 IL2RA
12
JAK-STAT signaling pathway (KEGG) 37
Show member pathways
 12.3 CCR5 CXCR4 IL10 IL2 IL2RA IL7R
13
MAPK Signaling: Mitogen Stimulation Pathway 65
Show member pathways
 12.13 CCR5 CXCR4 IL2RA IL7R
14
AKT Signaling Pathway 67
12.08 CCR5 CXCR4 IL2RA IL7R
15
FoxO signaling pathway 37
Show member pathways
 12.05 ATM IL10 IL7R RAG2
16
Immune response IFN gamma signaling pathway 22
Show member pathways
 12.03 CD4 IL10 IL2 IL2RA IL7R
17
IL12-mediated signaling events 1
Show member pathways
 11.94 CCR5 CD4 IL2 IL2RA
18
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.87 CD4 IL10 IL2 IL2RA IL7R
19
Hematopoietic cell lineage 37
11.84 CD4 CD9 IL2RA IL7R
20
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.71 CD40LG FOXP3 IL2 IL2RA
21
Dendritic Cells Developmental Lineage Pathway 65
11.68 CD4 IL10 IL2 IL7R
22
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.64 FOXP3 IL2 IL2RA
23
Innate Lymphoid Cell Differentiation Pathways 65
11.62 CD4 IL10 IL2 IL2RA IL7R
24
Jak-Stat Signaling Pathway (sino) 67
11.38 CCR5 CXCR4 IL10 IL2 IL2RA IL7R
25
Inflammatory Response Pathway 1
11.29 CD40LG IL2 IL2RA
26
B Cell Development Pathways 65
11.28 CD4 CD40LG CXCR4 IL10 IL7R
27
Primary immunodeficiency 37
11.24 CD4 CD40LG IL7R RAG2
28
Cytokines and Inflammatory Response 1
11.21 CD4 IL10 IL2
29
IL12 signaling mediated by STAT4 1
11.19 CD4 IL2 IL2RA
30
Th2 Differentiation Pathway 65
10.68 CD4 FOXP3 IL10 IL2 IL2RA
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 cell surface GO:0009986 9.43 CCR5 CD4 CD40LG CD9 CXCR4 IL2RA
2 external side of plasma membrane GO:0009897 9.17 CCR5 CD4 CD40LG CD9 CXCR4 IL2RA

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.97 CCR5 CD4 CXCR4 ERVK-6 KAT5
2 cell surface receptor signaling pathway GO:0007166 9.88 CCR5 CD4 CD9 IL2RA IL7R
3 cytokine-mediated signaling pathway GO:0019221 9.85 CCR5 CD4 IL10 IL2 IL2RA IL7R
4 B cell differentiation GO:0030183 9.76 CD40LG IL10 RAG2
5 negative regulation of inflammatory response GO:0050728 9.76 FOXP3 IL10 IL2 IL2RA
6 T cell activation GO:0042110 9.73 CD4 FOXP3 WAS
7 negative regulation of T cell proliferation GO:0042130 9.71 FOXP3 IL10 IL2RA
8 positive regulation of T cell proliferation GO:0042102 9.71 CD4 CD40LG IL2 IL2RA
9 B cell proliferation GO:0042100 9.67 CD40LG IL10 IL7R
10 dendritic cell chemotaxis GO:0002407 9.63 CCR5 CXCR4
11 negative regulation of B cell proliferation GO:0030889 9.62 ATM IL10
12 DNA double-strand break processing GO:0000729 9.62 ATM KAT5
13 T cell differentiation GO:0030217 9.62 CD4 IL2 IL7R RAG2
14 negative regulation of immune response GO:0050777 9.61 FOXP3 IL2RA
15 negative regulation of interleukin-2 production GO:0032703 9.61 FOXP3 KAT5
16 regulation of regulatory T cell differentiation GO:0045589 9.61 FOXP3 IL2 IL2RA
17 positive regulation of regulatory T cell differentiation GO:0045591 9.6 FOXP3 IL2
18 interleukin-2-mediated signaling pathway GO:0038110 9.59 IL2 IL2RA
19 negative regulation of T-helper 17 cell differentiation GO:2000320 9.57 FOXP3 IL2
20 pre-B cell allelic exclusion GO:0002331 9.52 ATM RAG2
21 regulation of T cell homeostatic proliferation GO:0046013 9.51 IL2 IL2RA
22 fusion of virus membrane with host plasma membrane GO:0019064 9.43 CCR5 CD4 CXCR4
23 negative regulation of lymphocyte proliferation GO:0050672 9.33 FOXP3 IL2 IL2RA
24 immune response GO:0006955 9.28 CCR5 CD4 CD40LG CXCR4 IL10 IL2
25 entry into host cell GO:0030260 9.13 CCR5 CD4 CXCR4
26 immune system process GO:0002376 10.02 APOBEC3F CD4 IL2 IL2RA SETD2 SH2D1A

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 9.58 APOBEC3F ATM CCR5 CD4 CD40LG CD9
2 virus receptor activity GO:0001618 9.33 CCR5 CD4 CXCR4
3 coreceptor activity GO:0015026 9.13 CCR5 CD4 CXCR4
Sources

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

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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