T B NK SCID
MCID: SVR098
MIFTS: 48
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Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive (T B NK SCID)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Rare diseases
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MalaCards integrated aliases for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:
Name: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
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Characteristics:Orphanet epidemiological data:58
t-b+ severe combined immunodeficiency due to cd45 deficiency
Inheritance: Autosomal recessive; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
presents at 2 to 3 months of age death within several months if untreated HPO:31
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Immune diseases
ICD10:
32
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.
MalaCards based summary : Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, also known as severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive, is related to severe combined immunodeficiency and severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative. An important gene associated with Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive is IL7R (Interleukin 7 Receptor), and among its related pathways/superpathways are Innate Immune System and ICos-ICosL Pathway in T-Helper Cell. Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are failure to thrive and decreased lymphocyte proliferation in response to mitogen Disease Ontology : 12 A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.
More information from OMIM:
608971
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Human phenotypes related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:58 31 (show all 41)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:608971GenomeRNAi Phenotypes related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:45
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MalaCards organs/tissues related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:40
T Cells,
B Cells,
Nk Cells,
Bone Marrow,
Bone
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Articles related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:(show top 50) (show all 53)
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ClinVar genetic disease variations for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:6 (show top 50) (show all 321)
UniProtKB/Swiss-Prot genetic disease variations for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive:73
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Search
GEO
for disease gene expression data for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive.
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Pathways related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive according to GeneCards Suite gene sharing:(show all 12)
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Cellular components related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive according to GeneCards Suite gene sharing:
Biological processes related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive according to GeneCards Suite gene sharing:
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