MCID: CMB055
MIFTS: 32

Combined Immunodeficiency Due to Crac Channel Dysfunction

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Combined Immunodeficiency Due to Crac Channel Dysfunction

MalaCards integrated aliases for Combined Immunodeficiency Due to Crac Channel Dysfunction:

Name: Combined Immunodeficiency Due to Crac Channel Dysfunction 58
Immune Dysfunction Due to T-Cell Inactivation Due to Calcium Entry Defect 58

Characteristics:

Orphanet epidemiological data:

58
combined immunodeficiency due to crac channel dysfunction
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Combined Immunodeficiency Due to Crac Channel Dysfunction

MalaCards based summary : Combined Immunodeficiency Due to Crac Channel Dysfunction, also known as immune dysfunction due to t-cell inactivation due to calcium entry defect, is related to immunodeficiency 9 and combined immunodeficiency. An important gene associated with Combined Immunodeficiency Due to Crac Channel Dysfunction is ORAI1 (ORAI Calcium Release-Activated Calcium Modulator 1), and among its related pathways/superpathways are Downstream signaling events of B Cell Receptor (BCR) and Calcium signaling pathway. Affiliated tissues include t cells, and related phenotypes are chronic otitis media and myopathy

Related Diseases for Combined Immunodeficiency Due to Crac Channel Dysfunction

Diseases related to Combined Immunodeficiency Due to Crac Channel Dysfunction via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 9 11.6
2 combined immunodeficiency 9.7 STIM1 ORAI1
3 t cell and nk cell immunodeficiency 9.5 STIM1 ORAI1
4 ectodermal dysplasia 9.4 STIM1 ORAI1
5 myopathy, tubular aggregate, 1 9.4 STIM1 ORAI1 LOC112081391
6 immunodeficiency 10 9.3 STIM1 ORAI1 LOC112081391
7 stormorken syndrome 9.3 STIM1 ORAI1 LOC112081391

Graphical network of the top 20 diseases related to Combined Immunodeficiency Due to Crac Channel Dysfunction:



Diseases related to Combined Immunodeficiency Due to Crac Channel Dysfunction

Symptoms & Phenotypes for Combined Immunodeficiency Due to Crac Channel Dysfunction

Human phenotypes related to Combined Immunodeficiency Due to Crac Channel Dysfunction:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000389
2 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
3 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
4 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
5 autoimmunity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002960
6 hypoplasia of the iris 58 31 hallmark (90%) Very frequent (99-80%) HP:0007676
7 meningitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001287
8 sepsis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100806
9 pneumonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002090
10 amelogenesis imperfecta 58 31 hallmark (90%) Very frequent (99-80%) HP:0000705
11 recurrent fungal infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002841
12 recurrent viral infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0004429
13 hypocalcification of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0011084
14 recurrent mycobacterial infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0011274
15 hypotonia 31 hallmark (90%) HP:0001252
16 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
17 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
18 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
19 anhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000970
20 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
21 hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001878
22 neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002664
23 muscular hypotonia 58 Very frequent (99-80%)
24 recurrent bacterial infections 58 Very frequent (99-80%)

Drugs & Therapeutics for Combined Immunodeficiency Due to Crac Channel Dysfunction

Search Clinical Trials , NIH Clinical Center for Combined Immunodeficiency Due to Crac Channel Dysfunction

Genetic Tests for Combined Immunodeficiency Due to Crac Channel Dysfunction

Anatomical Context for Combined Immunodeficiency Due to Crac Channel Dysfunction

MalaCards organs/tissues related to Combined Immunodeficiency Due to Crac Channel Dysfunction:

40
T Cells

Publications for Combined Immunodeficiency Due to Crac Channel Dysfunction

Articles related to Combined Immunodeficiency Due to Crac Channel Dysfunction:

(show all 12)
# Title Authors PMID Year
1
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency. 6
26560041 2016
2
STIM1 and SLC24A4 Are Critical for Enamel Maturation. 6
24621671 2014
3
Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency. 6
22190180 2012
4
STIM1 couples to ORAI1 via an intramolecular transition into an extended conformation. 6
21427704 2011
5
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. 6
20876309 2010
6
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. 6
20004786 2009
7
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. 6
19420366 2009
8
Dynamic coupling of the putative coiled-coil domain of ORAI1 with STIM1 mediates ORAI1 channel activation. 6
18187424 2008
9
A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. 6
16582901 2006
10
Severe combined immunodeficiency due to defective binding of the nuclear factor of activated T cells in T lymphocytes of two male siblings. 6
8814256 1996
11
A primary T-cell immunodeficiency associated with defective transmembrane calcium influx. 6
7531512 1995
12
The calcium current activated by T cell receptor and store depletion in human lymphocytes is absent in a primary immunodeficiency. 6
7798233 1994

Variations for Combined Immunodeficiency Due to Crac Channel Dysfunction

ClinVar genetic disease variations for Combined Immunodeficiency Due to Crac Channel Dysfunction:

6 (show top 50) (show all 249)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ORAI1 NM_032790.3(ORAI1):c.271C>T (p.Arg91Trp) SNV Pathogenic 1283 rs118203993 12:122064924-122064924 12:121627018-121627018
2 STIM1 NM_003156.3(STIM1):c.381dup (p.Glu128fs) Duplication Pathogenic 4711 rs397515357 11:4045212-4045213 11:4023982-4023983
3 STIM1 NM_003156.3(STIM1):c.970-1G>A SNV Pathogenic 30540 rs397515390 11:4103413-4103413 11:4082183-4082183
4 STIM1 NM_003156.3(STIM1):c.1285C>T (p.Arg429Cys) SNV Pathogenic 41464 rs397514671 11:4104539-4104539 11:4083309-4083309
5 ORAI1 NM_032790.3(ORAI1):c.261dup (p.Ala88fs) Duplication Pathogenic 192286 rs878853261 12:122064911-122064912 12:121627005-121627006
6 ORAI1 NM_032790.3(ORAI1):c.308C>A (p.Ala103Glu) SNV Pathogenic 192287 rs786205890 12:122078951-122078951 12:121641045-121641045
7 ORAI1 NM_032790.3(ORAI1):c.581T>C (p.Leu194Pro) SNV Pathogenic 192288 rs782753385 12:122079224-122079224 12:121641318-121641318
8 STIM1 NM_003156.3(STIM1):c.221T>C (p.Leu74Pro) SNV Pathogenic 375471 rs1057519506 11:3988863-3988863 11:3967633-3967633
9 STIM1 NM_003156.3(STIM1):c.1276C>T (p.Arg426Cys) SNV Pathogenic 375470 rs1057519505 11:4104530-4104530 11:4083300-4083300
10 STIM1 NM_003156.3(STIM1):c.343A>T (p.Ile115Phe) SNV Pathogenic 143191 rs527236030 11:4045175-4045175 11:4023945-4023945
11 ORAI1 NM_032790.3(ORAI1):c.141_142insCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC (p.Ser48fs) Insertion Pathogenic 470188 rs1555322558 12:122064794-122064795 12:121626888-121626889
12 STIM1 NM_003156.3(STIM1):c.910C>T (p.Arg304Trp) SNV Pathogenic 132887 rs483352867 11:4095850-4095850 11:4074620-4074620
13 STIM1 NM_003156.3(STIM1):c.1452del (p.Ile484fs) Deletion Pathogenic 572186 rs1565171115 11:4104705-4104705 11:4083475-4083475
14 STIM1 NM_003156.3(STIM1):c.700_707del (p.Asn234fs) Deletion Pathogenic 643831 rs1590688717 11:4091342-4091349 11:4070112-4070119
15 STIM1 NM_003156.3(STIM1):c.326A>G (p.His109Arg) SNV Pathogenic 41483 rs397514677 11:4045158-4045158 11:4023928-4023928
16 LOC112081391 NC_000011.10:g.(?_3856251)_(4091818_?)del Deletion Pathogenic 665042 11:3877481-4113048 11:3856251-4091818
17 STIM1 NM_003156.3(STIM1):c.910C>T (p.Arg304Trp) SNV Pathogenic 132887 rs483352867 11:4095850-4095850 11:4074620-4074620
18 STIM1 NC_000011.10:g.(?_4059271)_(4059406_?)del Deletion Pathogenic 832877 11:4080501-4080636
19 ORAI1 NM_032790.3(ORAI1):c.546del (p.Ile182fs) Deletion Likely pathogenic 639606 rs1594212582 12:122079189-122079189 12:121641283-121641283
20 STIM1 NM_003156.3(STIM1):c.239A>C (p.Asn80Thr) SNV Likely pathogenic 189363 rs748277951 11:3988881-3988881 11:3967651-3967651
21 ORAI1 NM_032790.3(ORAI1):c.823G>A (p.Glu275Lys) SNV Uncertain significance 863239 12:122079466-122079466 12:121641560-121641560
22 STIM1 NM_003156.3(STIM1):c.1378T>G (p.Trp460Gly) SNV Uncertain significance 863348 11:4104632-4104632 11:4083402-4083402
23 STIM1 NM_003156.3(STIM1):c.1808C>T (p.Ala603Val) SNV Uncertain significance 864286 11:4112778-4112778 11:4091548-4091548
24 STIM1 NC_000011.10:g.(?_3967532)_(4091818_?)dup Duplication Uncertain significance 831765 11:3988762-4113048
25 STIM1 NM_001382567.1(STIM1):c.107C>T (p.Ser36Leu) SNV Uncertain significance 931672 11:3877607-3877607 11:3856377-3856377
26 STIM1 NM_001382567.1(STIM1):c.1186G>A (p.Val396Met) SNV Uncertain significance 934559 11:4104160-4104160 11:4082930-4082930
27 STIM1 NM_001382567.1(STIM1):c.752T>C (p.Leu251Ser) SNV Uncertain significance 935049 11:4091394-4091394 11:4070164-4070164
28 STIM1 NM_001382567.1(STIM1):c.1079_1080delinsGG (p.Gln360Arg) Indel Uncertain significance 937164 11:4103523-4103524 11:4082293-4082294
29 ORAI1 NM_032790.3(ORAI1):c.266C>G (p.Ser89Cys) SNV Uncertain significance 937366 12:122064919-122064919 12:121627013-121627013
30 STIM1 NM_001382567.1(STIM1):c.1371C>G (p.Asp457Glu) SNV Uncertain significance 937398 11:4104625-4104625 11:4083395-4083395
31 ORAI1 NM_032790.3(ORAI1):c.22C>T (p.Pro8Ser) SNV Uncertain significance 937657 12:122064669-122064669 12:121626764-121626764
32 STIM1 NM_001382567.1(STIM1):c.1632G>C (p.Gln544His) SNV Uncertain significance 937806 11:4107771-4107771 11:4086541-4086541
33 STIM1 NM_001382567.1(STIM1):c.670G>A (p.Val224Met) SNV Uncertain significance 940014 11:4091312-4091312 11:4070082-4070082
34 STIM1 NM_001382567.1(STIM1):c.731TGA[1] (p.Met245del) Microsatellite Uncertain significance 940498 11:4091371-4091373 11:4070141-4070143
35 STIM1 NM_001382567.1(STIM1):c.1822G>A (p.Ala608Thr) SNV Uncertain significance 942022 11:4112699-4112699 11:4091469-4091469
36 STIM1 NM_001382567.1(STIM1):c.937C>T (p.Arg313Cys) SNV Uncertain significance 942156 11:4095877-4095877 11:4074647-4074647
37 STIM1 NM_001382567.1(STIM1):c.81C>A (p.His27Gln) SNV Uncertain significance 942226 11:3877581-3877581 11:3856351-3856351
38 STIM1 NM_001382567.1(STIM1):c.1367T>C (p.Ile456Thr) SNV Uncertain significance 942254 11:4104621-4104621 11:4083391-4083391
39 ORAI1 NM_032790.3(ORAI1):c.776G>A (p.Arg259His) SNV Uncertain significance 942275 12:122079419-122079419 12:121641513-121641513
40 STIM1 NM_001382567.1(STIM1):c.1820C>T (p.Pro607Leu) SNV Uncertain significance 944046 11:4112697-4112697 11:4091467-4091467
41 STIM1 NM_001382567.1(STIM1):c.1738A>G (p.Asn580Asp) SNV Uncertain significance 944081 11:4112615-4112615 11:4091385-4091385
42 STIM1 NM_001382567.1(STIM1):c.1439T>C (p.Met480Thr) SNV Uncertain significance 946404 11:4104693-4104693 11:4083463-4083463
43 ORAI1 NM_032790.3(ORAI1):c.682G>A (p.Gly228Ser) SNV Uncertain significance 946679 12:122079325-122079325 12:121641419-121641419
44 STIM1 NM_001382567.1(STIM1):c.1175G>C (p.Gly392Ala) SNV Uncertain significance 947118 11:4104149-4104149 11:4082919-4082919
45 STIM1 NM_001382567.1(STIM1):c.271-3C>T SNV Uncertain significance 947217 11:4045100-4045100 11:4023870-4023870
46 STIM1 NM_001382567.1(STIM1):c.1206G>A (p.Leu402=) SNV Uncertain significance 947426 11:4104180-4104180 11:4082950-4082950
47 STIM1 NM_001382567.1(STIM1):c.532G>T (p.Val178Leu) SNV Uncertain significance 948064 11:4080545-4080545 11:4059315-4059315
48 STIM1 NM_001382567.1(STIM1):c.1180T>C (p.Phe394Leu) SNV Uncertain significance 948102 11:4104154-4104154 11:4082924-4082924
49 ORAI1 NM_032790.3(ORAI1):c.132_135delinsGCCGT (p.Pro46fs) Indel Uncertain significance 949000 12:122064785-122064788 12:121626879-121626882
50 ORAI1 NM_032790.3(ORAI1):c.726C>G (p.Ile242Met) SNV Uncertain significance 949979 12:122079369-122079369 12:121641463-121641463

Expression for Combined Immunodeficiency Due to Crac Channel Dysfunction

Search GEO for disease gene expression data for Combined Immunodeficiency Due to Crac Channel Dysfunction.

Pathways for Combined Immunodeficiency Due to Crac Channel Dysfunction

GO Terms for Combined Immunodeficiency Due to Crac Channel Dysfunction

Cellular components related to Combined Immunodeficiency Due to Crac Channel Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane raft GO:0044853 8.62 STIM1 ORAI1

Biological processes related to Combined Immunodeficiency Due to Crac Channel Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.32 STIM1 ORAI1
2 calcium ion transmembrane transport GO:0070588 9.26 STIM1 ORAI1
3 regulation of calcium ion transport GO:0051924 9.16 STIM1 ORAI1
4 positive regulation of adenylate cyclase activity GO:0045762 8.96 STIM1 ORAI1
5 store-operated calcium entry GO:0002115 8.62 STIM1 ORAI1

Molecular functions related to Combined Immunodeficiency Due to Crac Channel Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 store-operated calcium channel activity GO:0015279 8.62 STIM1 ORAI1

Sources for Combined Immunodeficiency Due to Crac Channel Dysfunction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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