MCID: IMM065
MIFTS: 27

Immunodeficiency 10

Categories: Genetic diseases, Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 10

MalaCards integrated aliases for Immunodeficiency 10:

Name: Immunodeficiency 10 57 75
Immune Dysfunction with T-Cell Inactivation Due to Calcium Entry Defect 2 57 53 75 29 6 40 73
Stim1 Deficiency 57 75
Imd10 57 75
Immune Dysfunction, with T-Cell Inactivation Due to Calcium Entry Defect 2 13
Combined Immunodeficiency Due to Stim1 Deficiency 59
Cid Due to Stim1 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
combined immunodeficiency due to stim1 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in childhood


HPO:

32
immunodeficiency 10:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


Summaries for Immunodeficiency 10

UniProtKB/Swiss-Prot : 75 Immunodeficiency 10: An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, lymphadenopathy, and normal lymphocytes counts and serum immunoglobulin levels. Additional features include thrombocytopenia, autoimmune hemolytic anemia, myopathy, partial iris hypoplasia, hepatosplenomegaly and defective enamel dentition.

MalaCards based summary : Immunodeficiency 10, also known as immune dysfunction with t-cell inactivation due to calcium entry defect 2, is related to immunodeficiency, common variable, 10 and kaposi sarcoma. An important gene associated with Immunodeficiency 10 is STIM1 (Stromal Interaction Molecule 1). Affiliated tissues include t cells and nk cells, and related phenotypes are hypohidrosis and muscular hypotonia

OMIM : 57 Immunodeficiency-10 is an autosomal recessive primary immunodeficiency characterized by onset of recurrent infections in childhood due to defective T- and NK-cell function, although the severity is variable. Affected individuals may also have hypotonia, hypohidrosis, or dental enamel hypoplasia consistent with amelogenesis imperfecta (summary by Parry et al., 2016). (612783)

Related Diseases for Immunodeficiency 10

Diseases related to Immunodeficiency 10 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 10 11.4
2 kaposi sarcoma 9.8
3 sarcoma 9.8
4 common variable immunodeficiency 9.5
5 dermatitis 9.5

Graphical network of the top 20 diseases related to Immunodeficiency 10:



Diseases related to Immunodeficiency 10

Symptoms & Phenotypes for Immunodeficiency 10

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscular hypotonia
myopathy, nonprogressive

Hematology:
thrombocytopenia
hemolytic anemia, autoimmune

Immunology:
lymphadenopathy
recurrent bacterial infections
impaired t cell activation
impaired t cell proliferative response
normal lymphocyte counts
more
Head And Neck Eyes:
iris hypoplasia, partial

Neoplasia:
kaposi sarcoma (1 patient)

Skin Nails Hair Skin:
hypohidrosis

Skin Nails Hair Nails:
nail dysplasia

Metabolic Features:
intermittent fever

Head And Neck Teeth:
defective enamel development
hypomineralized amelogenesis imperfecta


Clinical features from OMIM:

612783

Human phenotypes related to Immunodeficiency 10:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypohidrosis 32 HP:0000966
2 muscular hypotonia 32 HP:0001252
3 thrombocytopenia 32 HP:0001873
4 autoimmune hemolytic anemia 32 HP:0001890
5 episodic fever 32 HP:0001954
6 nail dysplasia 32 HP:0002164
7 lymphadenopathy 32 HP:0002716
8 recurrent bacterial infections 32 HP:0002718
9 recurrent infections 32 HP:0002719
10 immunodeficiency 32 HP:0002721
11 myopathy 32 HP:0003198
12 hypoplasia of the iris 32 HP:0007676

Drugs & Therapeutics for Immunodeficiency 10

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MGuardâ„¢ Prime Stent System Clinical Trial in Patients With Acute ST Elevation Myocardial Infarction Terminated NCT01869738 Not Applicable

Search NIH Clinical Center for Immunodeficiency 10

Genetic Tests for Immunodeficiency 10

Genetic tests related to Immunodeficiency 10:

# Genetic test Affiliating Genes
1 Immune Dysfunction with T-Cell Inactivation Due to Calcium Entry Defect 2 29 STIM1

Anatomical Context for Immunodeficiency 10

MalaCards organs/tissues related to Immunodeficiency 10:

41
T Cells, Nk Cells

Publications for Immunodeficiency 10

Articles related to Immunodeficiency 10:

# Title Authors Year
1
Psoriasiform dermatitis associated with common variable immunodeficiency 10 due to an Arg853* mutation in the NFKB2 gene. ( 29952021 )
2018

Variations for Immunodeficiency 10

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 10:

75
# Symbol AA change Variation ID SNP ID
1 STIM1 p.Arg429Cys VAR_069896 rs397514671

ClinVar genetic disease variations for Immunodeficiency 10:

6
(show top 50) (show all 98)
# Gene Variation Type Significance SNP ID Assembly Location
1 STIM1 NM_003156.3(STIM1): c.381dupA (p.Glu128Argfs) duplication Pathogenic rs397515357 GRCh37 Chromosome 11, 4045213: 4045213
2 STIM1 NM_003156.3(STIM1): c.381dupA (p.Glu128Argfs) duplication Pathogenic rs397515357 GRCh38 Chromosome 11, 4023983: 4023983
3 STIM1 NM_003156.3(STIM1): c.970-1G> A single nucleotide variant Pathogenic rs397515390 GRCh37 Chromosome 11, 4103413: 4103413
4 STIM1 NM_003156.3(STIM1): c.970-1G> A single nucleotide variant Pathogenic rs397515390 GRCh38 Chromosome 11, 4082183: 4082183
5 STIM1 NM_003156.3(STIM1): c.1285C> T (p.Arg429Cys) single nucleotide variant Pathogenic rs397514671 GRCh37 Chromosome 11, 4104539: 4104539
6 STIM1 NM_003156.3(STIM1): c.1285C> T (p.Arg429Cys) single nucleotide variant Pathogenic rs397514671 GRCh38 Chromosome 11, 4083309: 4083309
7 STIM1 NM_003156.3(STIM1): c.1571C> T (p.Ser524Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs141215990 GRCh37 Chromosome 11, 4112541: 4112541
8 STIM1 NM_003156.3(STIM1): c.1571C> T (p.Ser524Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs141215990 GRCh38 Chromosome 11, 4091311: 4091311
9 STIM1 NM_003156.3(STIM1): c.114C> G (p.Ala38=) single nucleotide variant Likely benign rs150033189 GRCh38 Chromosome 11, 3856384: 3856384
10 STIM1 NM_003156.3(STIM1): c.114C> G (p.Ala38=) single nucleotide variant Likely benign rs150033189 GRCh37 Chromosome 11, 3877614: 3877614
11 STIM1 NM_003156.3(STIM1): c.1138-9T> C single nucleotide variant Benign rs58461583 GRCh38 Chromosome 11, 4082873: 4082873
12 STIM1 NM_003156.3(STIM1): c.1138-9T> C single nucleotide variant Benign rs58461583 GRCh37 Chromosome 11, 4104103: 4104103
13 STIM1 NM_003156.3(STIM1): c.1302G> A (p.Glu434=) single nucleotide variant Benign rs116837894 GRCh38 Chromosome 11, 4083326: 4083326
14 STIM1 NM_003156.3(STIM1): c.1302G> A (p.Glu434=) single nucleotide variant Benign rs116837894 GRCh37 Chromosome 11, 4104556: 4104556
15 STIM1 NM_003156.3(STIM1): c.1518A> G (p.Pro506=) single nucleotide variant Benign rs199512211 GRCh37 Chromosome 11, 4107750: 4107750
16 STIM1 NM_003156.3(STIM1): c.1518A> G (p.Pro506=) single nucleotide variant Benign rs199512211 GRCh38 Chromosome 11, 4086520: 4086520
17 STIM1 NM_003156.3(STIM1): c.1612C> T (p.Pro538Ser) single nucleotide variant Benign rs35960304 GRCh38 Chromosome 11, 4091352: 4091352
18 STIM1 NM_003156.3(STIM1): c.1612C> T (p.Pro538Ser) single nucleotide variant Benign rs35960304 GRCh37 Chromosome 11, 4112582: 4112582
19 STIM1 NM_003156.3(STIM1): c.1803C> G (p.Pro601=) single nucleotide variant Benign rs61743670 GRCh37 Chromosome 11, 4112773: 4112773
20 STIM1 NM_003156.3(STIM1): c.1803C> G (p.Pro601=) single nucleotide variant Benign rs61743670 GRCh38 Chromosome 11, 4091543: 4091543
21 STIM1 NM_003156.3(STIM1): c.1928G> A (p.Arg643His) single nucleotide variant Likely benign rs140080199 GRCh38 Chromosome 11, 4091668: 4091668
22 STIM1 NM_003156.3(STIM1): c.1928G> A (p.Arg643His) single nucleotide variant Likely benign rs140080199 GRCh37 Chromosome 11, 4112898: 4112898
23 STIM1 NM_003156.3(STIM1): c.1276C> T (p.Arg426Cys) single nucleotide variant Pathogenic rs1057519505 GRCh38 Chromosome 11, 4083300: 4083300
24 STIM1 NM_003156.3(STIM1): c.1276C> T (p.Arg426Cys) single nucleotide variant Pathogenic rs1057519505 GRCh37 Chromosome 11, 4104530: 4104530
25 STIM1 NM_003156.3(STIM1): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs1057519506 GRCh38 Chromosome 11, 3967633: 3967633
26 STIM1 NM_003156.3(STIM1): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs1057519506 GRCh37 Chromosome 11, 3988863: 3988863
27 STIM1 NM_003156.3(STIM1): c.57G> C (p.Gln19His) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 3856327: 3856327
28 STIM1 NM_003156.3(STIM1): c.57G> C (p.Gln19His) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 3877557: 3877557
29 STIM1 NM_003156.3(STIM1): c.488C> A (p.Ala163Asp) single nucleotide variant Uncertain significance rs199893056 GRCh38 Chromosome 11, 4055628: 4055628
30 STIM1 NM_003156.3(STIM1): c.488C> A (p.Ala163Asp) single nucleotide variant Uncertain significance rs199893056 GRCh37 Chromosome 11, 4076858: 4076858
31 STIM1 NM_003156.3(STIM1): c.597C> A (p.Leu199=) single nucleotide variant Benign/Likely benign rs189905382 GRCh38 Chromosome 11, 4059380: 4059380
32 STIM1 NM_003156.3(STIM1): c.597C> A (p.Leu199=) single nucleotide variant Benign/Likely benign rs189905382 GRCh37 Chromosome 11, 4080610: 4080610
33 STIM1 NM_003156.3(STIM1): c.1238+9C> T single nucleotide variant Likely benign rs375604403 GRCh37 Chromosome 11, 4104221: 4104221
34 STIM1 NM_003156.3(STIM1): c.1238+9C> T single nucleotide variant Likely benign rs375604403 GRCh38 Chromosome 11, 4082991: 4082991
35 STIM1 NM_003156.3(STIM1): c.1425C> T (p.Asp475=) single nucleotide variant Likely benign rs200776986 GRCh37 Chromosome 11, 4104679: 4104679
36 STIM1 NM_003156.3(STIM1): c.1425C> T (p.Asp475=) single nucleotide variant Likely benign rs200776986 GRCh38 Chromosome 11, 4083449: 4083449
37 STIM1 NM_003156.3(STIM1): c.1541+287G> A single nucleotide variant Benign rs562406813 GRCh38 Chromosome 11, 4086830: 4086830
38 STIM1 NM_003156.3(STIM1): c.1541+287G> A single nucleotide variant Benign rs562406813 GRCh37 Chromosome 11, 4108060: 4108060
39 STIM1 NM_003156.3(STIM1): c.1712A> G (p.Lys571Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 4091452: 4091452
40 STIM1 NM_003156.3(STIM1): c.1712A> G (p.Lys571Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 4112682: 4112682
41 STIM1 NM_003156.3(STIM1): c.2049T> A (p.Leu683=) single nucleotide variant Likely benign rs199935070 GRCh37 Chromosome 11, 4113019: 4113019
42 STIM1 NM_003156.3(STIM1): c.2049T> A (p.Leu683=) single nucleotide variant Likely benign rs199935070 GRCh38 Chromosome 11, 4091789: 4091789
43 STIM1 NM_003156.3(STIM1): c.234T> C (p.Asp78=) single nucleotide variant Benign rs146126071 GRCh38 Chromosome 11, 3967646: 3967646
44 STIM1 NM_003156.3(STIM1): c.234T> C (p.Asp78=) single nucleotide variant Benign rs146126071 GRCh37 Chromosome 11, 3988876: 3988876
45 STIM1 NM_003156.3(STIM1): c.861C> T (p.Arg287=) single nucleotide variant Benign rs16929446 GRCh38 Chromosome 11, 4074571: 4074571
46 STIM1 NM_003156.3(STIM1): c.861C> T (p.Arg287=) single nucleotide variant Benign rs16929446 GRCh37 Chromosome 11, 4095801: 4095801
47 STIM1 NM_003156.3(STIM1): c.1185C> T (p.His395=) single nucleotide variant Likely benign rs1027836784 GRCh38 Chromosome 11, 4082929: 4082929
48 STIM1 NM_003156.3(STIM1): c.1185C> T (p.His395=) single nucleotide variant Likely benign rs1027836784 GRCh37 Chromosome 11, 4104159: 4104159
49 STIM1 NM_003156.3(STIM1): c.1299C> T (p.Ile433=) single nucleotide variant Likely benign rs200738706 GRCh37 Chromosome 11, 4104553: 4104553
50 STIM1 NM_003156.3(STIM1): c.1299C> T (p.Ile433=) single nucleotide variant Likely benign rs200738706 GRCh38 Chromosome 11, 4083323: 4083323

Expression for Immunodeficiency 10

Search GEO for disease gene expression data for Immunodeficiency 10.

Pathways for Immunodeficiency 10

GO Terms for Immunodeficiency 10

Sources for Immunodeficiency 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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