MCID: ALP042
MIFTS: 30

Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity malady

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Sources:
50OMIM, 12diseasecard, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 37MeSH, 29ICD10 via Orphanet, 35MedGen
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Aliases & Descriptions for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:

Name: Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 50 12
Alpha/beta T-Cell Lymphopenia, with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection and Autoimmunity 68 25
Combined Immunodeficiency T+ B+ Due to Partial Rag1 Deficiency 52
Cid with Expansion of Gamma Delta T Cells 52
 
Cid T+ B+ Due to Partial Rag1 Deficiency 52
Autoimmunity 37
T-Cmva 68

Characteristics:

Orphanet epidemiological data:

52
combined immunodeficiency t+ b+ due to partial rag1 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

Classifications:



External Ids:

OMIM50 609889
Orphanet52 ORPHA231154
ICD10 via Orphanet29 D81.8
MedGen35 C1835931

Summaries for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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UniProtKB/Swiss-Prot:68 Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity: An immunological disorder characterized by oligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminated cytomegalovirus infection and autoimmune cytopenia.

MalaCards based summary: Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity, also known as alpha/beta t-cell lymphopenia, with gamma/delta t-cell expansion, severe cytomegalovirus infection and autoimmunity, is related to autoimmune hepatitis and autoimmune lymphoproliferative syndrome, and has symptoms including splenomegaly, severe combined immunodeficiency and cellular immunodeficiency. An important gene associated with Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity is RAG1 (Recombination Activating 1). Affiliated tissues include t cells and neutrophil.

Description from OMIM:50 609889

Related Diseases for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Diseases related to Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 1114)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune hepatitis12.3
2autoimmune lymphoproliferative syndrome12.2
3autoimmune thyroiditis12.2
4autoimmune polyendocrine syndrome, type ii12.2
5autoimmune polyendocrine syndrome type 112.2
6autoimmune hemolytic anemia12.2
7autoimmune polyendocrine syndrome12.2
8autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia12.2
9ras-associated autoimmune leukoproliferative disorder12.1
10autoimmune lymphoproliferative syndrome, type ii12.1
11autoimmune pancreatitis12.1
12thrombocytopenic purpura, autoimmune12.0
13autoimmune polyglandular syndrome type 312.0
14autoimmune polyendocrinopathy type 312.0
15autoimmune addison disease12.0
16autoimmune lymphoproliferative syndrome, type v12.0
17autoimmune lymphoproliferative syndrome, type iii12.0
18drug-induced autoimmune hemolytic anemia12.0
19autoimmune hemolytic anemia, warm type12.0
20autoimmune disease 112.0
21autoimmune myocarditis12.0
22autoimmune enteropathy12.0
23autoimmune progesterone dermatitis12.0
24autoimmune oophoritis12.0
25autoimmune autonomic ganglionopathy12.0
26t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations11.9
27autoimmune encephalitis11.9
28vitiligo-associated multiple autoimmune disease susceptibility 111.9
29autoimmune neuropathy11.9
30autoimmune inner ear disease11.9
31autoimmune retinopathy11.9
32autoimmune interstitial lung, joint, and kidney disease11.9
33autoimmune disease 611.9
34autoimmune lymphoproliferative syndrome, type iib11.9
35autoimmune atrophic gastritis11.9
36mixed-type autoimmune hemolytic anemia11.9
37immunodeficiency, common variable, 8, with autoimmunity11.9
38autoimmune polyendocrinopathy type 411.9
39insulin autoimmune syndrome11.9
40autoimmune gastrointestinal dysmotility11.9
41autoimmune thyroid disease 311.9
42autoimmune disease, multisystem, with facial dysmorphism11.9
43autoimmune disease, multisystem, infantile-onset11.9
44immunodeficiency 41 with lymphoproliferation and autoimmunity11.8
45autoimmune thyroid disease 211.8
46autoimmune disease of central nervous system11.8
47autoimmune necrotizing myopathy11.8
48autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome11.8
49dianzani autoimmune lymphoproliferative disease11.8
50autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency11.8

Graphical network of the top 20 diseases related to Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:



Diseases related to alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity

Symptoms for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Clinical features from OMIM:

609889

Symptoms:

 52 (show all 10)
  • splenomegaly
  • autoimmune hemolytic anemia
  • autoimmune neutropenia
  • immunodeficiency
  • autoimmunity
  • severe combined immunodeficiency
  • t lymphocytopenia
  • interstitial pneumonitis
  • b lymphocytopenia
  • sepsis

HPO human phenotypes related to Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:

(show all 7)
id Description Frequency HPO Source Accession
1 splenomegaly hallmark (90%) HP:0001744
2 severe combined immunodeficiency hallmark (90%) HP:0004430
3 cellular immunodeficiency hallmark (90%) HP:0005374
4 sepsis hallmark (90%) HP:0100806
5 abnormality of neutrophils typical (50%) HP:0001874
6 hemolytic anemia typical (50%) HP:0001878
7 autoimmunity occasional (7.5%) HP:0002960

Drugs & Therapeutics for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity


Cochrane evidence based reviews: autoimmunity

Genetic Tests for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Genetic tests related to Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:

id Genetic test Affiliating Genes
1 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity25

Anatomical Context for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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MalaCards organs/tissues related to Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:

34
T cells, Neutrophil

Animal Models for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,... or affiliated genes

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Publications for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Variations for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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UniProtKB/Swiss-Prot genetic disease variations for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:

68
id Symbol AA change Variation ID SNP ID
1RAG1p.Arg841TrpVAR_025985rs104894287
2RAG1p.Gln981ProVAR_025988rs104894288

Clinvar genetic disease variations for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RAG1RAG1, 2-BP DEL, 368AAdeletionPathogenic
2RAG1RAG1, 1-BP DEL, 631TdeletionPathogenic
3RAG1NM_000448.2(RAG1): c.2521C> T (p.Arg841Trp)single nucleotide variantPathogenicrs104894287GRCh37Chr 11, 36597375: 36597375
4RAG1NM_000448.2(RAG1): c.2942A> C (p.Gln981Pro)single nucleotide variantPathogenicrs104894288GRCh37Chr 11, 36597796: 36597796

Expression for genes affiliated with Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Search GEO for disease gene expression data for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity.

Pathways for genes affiliated with Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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GO Terms for genes affiliated with Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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Sources for Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion,...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet