MCID: CMB095
MIFTS: 17

Combined T and B Cell Immunodeficiency

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Combined T and B Cell Immunodeficiency

Summaries for Combined T and B Cell Immunodeficiency

MalaCards based summary : Combined T and B Cell Immunodeficiency is related to hepatic venoocclusive disease with immunodeficiency and lung disease, immunodeficiency, and chromosome breakage syndrome. An important gene associated with Combined T and B Cell Immunodeficiency is CARMIL2 (Capping Protein Regulator And Myosin 1 Linker 2). Affiliated tissues include b cells and lung, and related phenotype is Mildly decreased CFP-tsO45G cell surface transport.

Related Diseases for Combined T and B Cell Immunodeficiency

Diseases related to Combined T and B Cell Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hepatic venoocclusive disease with immunodeficiency 11.7
2 lung disease, immunodeficiency, and chromosome breakage syndrome 11.4
3 combined immunodeficiency due to partial rag1 deficiency 11.4

Symptoms & Phenotypes for Combined T and B Cell Immunodeficiency

GenomeRNAi Phenotypes related to Combined T and B Cell Immunodeficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Mildly decreased CFP-tsO45G cell surface transport GR00360-A-1 8.8 CARMIL2 NSMCE3 SP110

Drugs & Therapeutics for Combined T and B Cell Immunodeficiency

Search Clinical Trials , NIH Clinical Center for Combined T and B Cell Immunodeficiency

Genetic Tests for Combined T and B Cell Immunodeficiency

Anatomical Context for Combined T and B Cell Immunodeficiency

MalaCards organs/tissues related to Combined T and B Cell Immunodeficiency:

41
B Cells, Lung

Publications for Combined T and B Cell Immunodeficiency

Articles related to Combined T and B Cell Immunodeficiency:

# Title Authors PMID Year
1
Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy. 38
28216420 2017
2
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. 38
27427983 2016
3
Thymoma with immunodeficiency with multiple recurrent oral herpetic infections. 38
30894954 2016
4
Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study. 38
24079059 2013
5
Primary immunodeficiency diseases in children: 15 year experience in a tertiary care medical center in Qatar. 38
23054346 2013
6
[Primary immunodeficiency diseases in children: clinical analysis of 35 cases]. 38
20704795 2010
7
Good's syndrome (hypogammaglobulinemia with thymoma) presenting intractable opportunistic infections and hyperkeratotic lichen planus. 38
20175853 2010
8
A 39-year-old father is diagnosed in adulthood as having partial DiGeorge anomaly with a combined T- and B-cell immunodeficiency after diagnosis of the condition in his daughter. 38
18592832 2008
9
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. 38
16648851 2006
10
Severe T- and B-cell immune deficiency associated with malignant thymoma. 38
14692437 2003

Variations for Combined T and B Cell Immunodeficiency

ClinVar genetic disease variations for Combined T and B Cell Immunodeficiency:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CARMIL2 NM_001013838.3(CARMIL2): c.490dup (p.Ala164fs) duplication Pathogenic rs886041043 16:67680640-67680640 16:67646737-67646737
2 CARMIL2 NM_001013838.3(CARMIL2): c.871+1G> T single nucleotide variant Pathogenic rs886041044 16:67681506-67681506 16:67647603-67647603

Expression for Combined T and B Cell Immunodeficiency

Search GEO for disease gene expression data for Combined T and B Cell Immunodeficiency.

Pathways for Combined T and B Cell Immunodeficiency

GO Terms for Combined T and B Cell Immunodeficiency

Sources for Combined T and B Cell 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
Content
Loading form....