MCID: TBS010
MIFTS: 25

T-B- Severe Combined Immunodeficiency

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for T-B- Severe Combined Immunodeficiency

MalaCards integrated aliases for T-B- Severe Combined Immunodeficiency:

Name: T-B- Severe Combined Immunodeficiency 59
T+ B+ Severe Combined Immunodeficiency 59
T+b+severe Combined Immunodeficiencies 37
T-B+ Severe Combined Immunodeficiency 59
T-B+severe Combined Immunodeficiency 37
T-B-Severe Combined Immunodeficiency 37
T-B- Scid 59
T-B+ Scid 59

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 34 D81.1 D81.2

Summaries for T-B- Severe Combined Immunodeficiency

KEGG : 37
Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi). Typically, patients with SCID have a severe defect in T-cell differentiation, along with direct or indirect impairment of B-cell development and function. SCIDs with lack of circulating T cells but a normal number of B cells accounts for 30 to 50% of all cases of human SCIDs. The most frequent form of SCID, X-linked SCID (SCID-X1), is caused by mutations in the gamma-chain-encoding gene. Gamma-chain is a common subunit shared by several cytokine receptors. It results in an absence of both mature T lymphocytes and NK lymphocytes. The second most common variant is autosomal recessive and due to mutations of the JAK3 gene. IL-7R alpha gene mutations result in a pure T-cell deficiency. Rare cases of SCID consisting of pure T-cell deficiencies have been attributed to defects in key proteins involved in pre-TCR/TCR signaling. Deficiency in the CD45 phosphatase has been reported in two cases of SCID, while defects in CD3 delta, CD3 epsilon and CD zeta have also been described.

MalaCards based summary : T-B- Severe Combined Immunodeficiency, also known as t+ b+ severe combined immunodeficiency, is related to severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative and immune deficiency disease. An important gene associated with T-B- Severe Combined Immunodeficiency is RAG2 (Recombination Activating 2), and among its related pathways/superpathways are Primary immunodeficiency and NF-kappaB Signaling. Affiliated tissues include b cells, t cells and bone, and related phenotype is endocrine/exocrine gland.

Related Diseases for T-B- Severe Combined Immunodeficiency

Graphical network of the top 20 diseases related to T-B- Severe Combined Immunodeficiency:



Diseases related to T-B- Severe Combined Immunodeficiency

Symptoms & Phenotypes for T-B- Severe Combined Immunodeficiency

MGI Mouse Phenotypes related to T-B- Severe Combined Immunodeficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 8.8 DCLRE1C JAK3 RAG2

Drugs & Therapeutics for T-B- Severe Combined Immunodeficiency

Search Clinical Trials , NIH Clinical Center for T-B- Severe Combined Immunodeficiency

Genetic Tests for T-B- Severe Combined Immunodeficiency

Anatomical Context for T-B- Severe Combined Immunodeficiency

MalaCards organs/tissues related to T-B- Severe Combined Immunodeficiency:

41
B Cells, T Cells, Bone, Bone Marrow

Publications for T-B- Severe Combined Immunodeficiency

Articles related to T-B- Severe Combined Immunodeficiency:

(show all 25)
# Title Authors PMID Year
1
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes. 38
24418478 2014
2
Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide. 38
21390052 2011
3
DNA-PKcs deficiency in human: long predicted, finally found. 38
19823081 2009
4
Impact of a hypomorphic Artemis disease allele on lymphocyte development, DNA end processing, and genome stability. 38
19349461 2009
5
Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease. 38
20128425 2009
6
A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining. 38
19075392 2009
7
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. 38
17572155 2007
8
Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian Primary Immunodeficiency Registry. 38
17024564 2006
9
2. Update on primary immunodeficiency diseases. 38
16455342 2006
10
Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. 38
15025726 2004
11
Nonhomologous end joining and V(D)J recombination require an additional factor. 38
12604777 2003
12
Recombination activating gene and its defects. 38
11964731 2001
13
Identification of anti-herpes simplex virus antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency. 38
11520796 2001
14
Bone marrow transplantation for T-B- severe combined immunodeficiency disease in Athabascan-speaking native Americans. 38
11360109 2001
15
Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. 38
11336668 2001
16
Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency. 38
11260071 2001
17
Novel immunodeficiency data servers. 38
11213802 2000
18
Structure-function effects in primary immunodeficiencies. 38
10972897 2000
19
N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements. 38
10891452 2000
20
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. 38
10982185 2000
21
Revised exon-intron structure of human JAK3 locus. 38
10573019 1999
22
Long-term T cell immune reconstitution in 2 SCID patients after BMT. 38
9568798 1998
23
Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase. 38
9446656 1998
24
Lack of detectable defect in DNA double-strand break repair and DNA-dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts. 38
8647176 1996
25
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. 38
8410508 1993

Variations for T-B- Severe Combined Immunodeficiency

Expression for T-B- Severe Combined Immunodeficiency

Search GEO for disease gene expression data for T-B- Severe Combined Immunodeficiency.

Pathways for T-B- Severe Combined Immunodeficiency

Pathways related to T-B- Severe Combined Immunodeficiency according to KEGG:

37
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

Pathways related to T-B- Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.67 JAK3 DCLRE1C
2 10.4 RAG2 JAK3
3 10.37 RAG2 JAK3 DCLRE1C

GO Terms for T-B- Severe Combined Immunodeficiency

Biological processes related to T-B- Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.26 JAK3 DCLRE1C
2 DNA recombination GO:0006310 9.16 RAG2 DCLRE1C
3 V(D)J recombination GO:0033151 8.96 RAG2 DCLRE1C
4 B cell differentiation GO:0030183 8.8 RAG2 JAK3 DCLRE1C

Sources for T-B- Severe Combined Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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