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

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MalaCards based summary: 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 splenomegaly, ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity and immunodeficiency/increased susceptibility to infections/recurrent infections. 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, lung and neutrophil.

Description from OMIM:46 609889

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

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity, Aliases & Descriptions:

Name: Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 46
Combined Immunodeficiency T+ B+ Due to Partial Rag1 Deficiency 48
 
Cid with Expansion of Gamma Delta T Cells 48
Cid T+ B+ Due to Partial Rag1 Deficiency 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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


External Ids:

OMIM46 609889
ICD10 via Orphanet26 D81.8

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

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

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Clinical features from OMIM:

609889

Symptoms:

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

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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Drug clinical trials:

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

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

32
T cells, Lung, 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:

64
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:

6
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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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

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet