MCID: ALP042
MIFTS: 18

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

Genetic diseases, Blood diseases, Rare diseases, Immune diseases categories

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

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48OMIM, 34MalaCards
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MalaCards: Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity, is also known as combined immunodeficiency t+ b+ due to partial rag1 deficiency, and has symptoms including autoimmunity/autoimmune reaction/autoantibodies, polynuclear cells/neutrophils anomalies/neutropenia and hemolytic anemia. 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 gene 1). Affiliated tissues include t cells and lung.

Description from OMIM:48 609889

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

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48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

50
combined immunodeficiency t+ b+ due to partial rag1 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 48
combined immunodeficiency t+ b+ due to partial rag1 deficiency 50
cid with expansion of gamma delta t cells 50
cid t+ b+ due to partial rag1 deficiency 50


External Ids:

OMIM48 609889
ICD10 via Orphanet27 D81.8

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

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48OMIM, 50Orphanet
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Clinical features from OMIM:

609889

Symptoms:

50 (show all 10)
  • autoimmunity/autoimmune reaction/autoantibodies
  • polynuclear cells/neutrophils anomalies/neutropenia
  • hemolytic anemia
  • sepsis severe/septicemia
  • autosomal recessive inheritance
  • t-cell deficiency/cellular immunity deficiency
  • severe combined immune deficiency syndrome/scid
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • splenomegaly

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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

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

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34MalaCards
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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, Lung

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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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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:

65
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:

1
id Gene Name 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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet