IMD10
MCID: IMM065
MIFTS: 29

Immunodeficiency 10 (IMD10)

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

Aliases & Classifications for Immunodeficiency 10

MalaCards integrated aliases for Immunodeficiency 10:

Name: Immunodeficiency 10 58 76
Immune Dysfunction with T-Cell Inactivation Due to Calcium Entry Defect 2 58 54 76 30 6 41 74
Stim1 Deficiency 58 76
Imd10 58 76
Immune Dysfunction, with T-Cell Inactivation Due to Calcium Entry Defect 2 13
Combined Immunodeficiency Due to Stim1 Deficiency 60
Cid Due to Stim1 Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
combined immunodeficiency due to stim1 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in childhood


HPO:

33
immunodeficiency 10:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


Summaries for Immunodeficiency 10

UniProtKB/Swiss-Prot : 76 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 alzheimer disease. 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 muscular hypotonia and myopathy

OMIM : 58 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 11.6
2 alzheimer disease 9.9
3 kaposi sarcoma 9.9
4 sarcoma 9.9
5 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.7
6 common variable immunodeficiency 9.7
7 dermatitis 9.7

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



Diseases related to Immunodeficiency 10

Symptoms & Phenotypes for Immunodeficiency 10

Human phenotypes related to Immunodeficiency 10:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 33 HP:0001252
2 myopathy 33 HP:0003198
3 immunodeficiency 33 HP:0002721
4 hypohidrosis 33 HP:0000966
5 thrombocytopenia 33 HP:0001873
6 hypoplasia of the iris 33 HP:0007676
7 recurrent infections 33 HP:0002719
8 recurrent bacterial infections 33 HP:0002718
9 nail dysplasia 33 HP:0002164
10 lymphadenopathy 33 HP:0002716
11 amelogenesis imperfecta 33 HP:0000705
12 autoimmune hemolytic anemia 33 HP:0001890
13 recurrent fever 33 HP:0001954

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
muscular hypotonia
myopathy, nonprogressive

Hematology:
thrombocytopenia
hemolytic anemia, autoimmune

Skin Nails Hair Nails:
nail dysplasia

Head And Neck Eyes:
iris hypoplasia, partial

Neoplasia:
kaposi sarcoma (1 patient)

Skin Nails Hair Skin:
hypohidrosis

Immunology:
recurrent bacterial infections
lymphadenopathy
impaired t cell activation
impaired t cell proliferative response
normal lymphocyte counts
more
Metabolic Features:
intermittent fever

Head And Neck Teeth:
defective enamel development
hypomineralized amelogenesis imperfecta

Clinical features from OMIM:

612783

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 30 STIM1

Anatomical Context for Immunodeficiency 10

MalaCards organs/tissues related to Immunodeficiency 10:

42
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 )
2019
2
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency. ( 26560041 )
2016
3
STIM1 and SLC24A4 Are Critical for Enamel Maturation. ( 24621671 )
2014
4
Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency. ( 22190180 )
2012
5
STIM1 couples to ORAI1 via an intramolecular transition into an extended conformation. ( 21427704 )
2011
6
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. ( 20876309 )
2010
7
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. ( 19420366 )
2009

Variations for Immunodeficiency 10

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

76
# 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 148)
# Gene Variation Type Significance SNP ID Assembly Location
1 STIM1 NM_003156.3(STIM1): c.381dup (p.Glu128Argfs) duplication Pathogenic rs397515357 GRCh37 Chromosome 11, 4045213: 4045213
2 STIM1 NM_003156.3(STIM1): c.381dup (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.343A> T (p.Ile115Phe) single nucleotide variant Pathogenic rs527236030 GRCh38 Chromosome 11, 4023945: 4023945
8 STIM1 NM_003156.3(STIM1): c.343A> T (p.Ile115Phe) single nucleotide variant Pathogenic rs527236030 GRCh37 Chromosome 11, 4045175: 4045175
9 STIM1 NM_003156.3(STIM1): c.1571C> T (p.Ser524Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs141215990 GRCh37 Chromosome 11, 4112541: 4112541
10 STIM1 NM_003156.3(STIM1): c.1571C> T (p.Ser524Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs141215990 GRCh38 Chromosome 11, 4091311: 4091311
11 STIM1 NM_003156.3(STIM1): c.114C> G (p.Ala38=) single nucleotide variant Likely benign rs150033189 GRCh38 Chromosome 11, 3856384: 3856384
12 STIM1 NM_003156.3(STIM1): c.114C> G (p.Ala38=) single nucleotide variant Likely benign rs150033189 GRCh37 Chromosome 11, 3877614: 3877614
13 STIM1 NM_003156.3(STIM1): c.1138-9T> C single nucleotide variant Benign rs58461583 GRCh38 Chromosome 11, 4082873: 4082873
14 STIM1 NM_003156.3(STIM1): c.1138-9T> C single nucleotide variant Benign rs58461583 GRCh37 Chromosome 11, 4104103: 4104103
15 STIM1 NM_003156.3(STIM1): c.1302G> A (p.Glu434=) single nucleotide variant Benign rs116837894 GRCh38 Chromosome 11, 4083326: 4083326
16 STIM1 NM_003156.3(STIM1): c.1302G> A (p.Glu434=) single nucleotide variant Benign rs116837894 GRCh37 Chromosome 11, 4104556: 4104556
17 STIM1 NM_003156.3(STIM1): c.1518A> G (p.Pro506=) single nucleotide variant Benign/Likely benign rs199512211 GRCh37 Chromosome 11, 4107750: 4107750
18 STIM1 NM_003156.3(STIM1): c.1518A> G (p.Pro506=) single nucleotide variant Benign/Likely benign rs199512211 GRCh38 Chromosome 11, 4086520: 4086520
19 STIM1 NM_003156.3(STIM1): c.1612C> T (p.Pro538Ser) single nucleotide variant Benign rs35960304 GRCh38 Chromosome 11, 4091352: 4091352
20 STIM1 NM_003156.3(STIM1): c.1612C> T (p.Pro538Ser) single nucleotide variant Benign rs35960304 GRCh37 Chromosome 11, 4112582: 4112582
21 STIM1 NM_003156.3(STIM1): c.1803C> G (p.Pro601=) single nucleotide variant Benign rs61743670 GRCh37 Chromosome 11, 4112773: 4112773
22 STIM1 NM_003156.3(STIM1): c.1803C> G (p.Pro601=) single nucleotide variant Benign rs61743670 GRCh38 Chromosome 11, 4091543: 4091543
23 STIM1 NM_003156.3(STIM1): c.1928G> A (p.Arg643His) single nucleotide variant Conflicting interpretations of pathogenicity rs140080199 GRCh38 Chromosome 11, 4091668: 4091668
24 STIM1 NM_003156.3(STIM1): c.1928G> A (p.Arg643His) single nucleotide variant Conflicting interpretations of pathogenicity rs140080199 GRCh37 Chromosome 11, 4112898: 4112898
25 STIM1 NM_003156.3(STIM1): c.1276C> T (p.Arg426Cys) single nucleotide variant Pathogenic rs1057519505 GRCh38 Chromosome 11, 4083300: 4083300
26 STIM1 NM_003156.3(STIM1): c.1276C> T (p.Arg426Cys) single nucleotide variant Pathogenic rs1057519505 GRCh37 Chromosome 11, 4104530: 4104530
27 STIM1 NM_003156.3(STIM1): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs1057519506 GRCh38 Chromosome 11, 3967633: 3967633
28 STIM1 NM_003156.3(STIM1): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs1057519506 GRCh37 Chromosome 11, 3988863: 3988863
29 STIM1 NM_003156.3(STIM1): c.1672C> T (p.Arg558Trp) single nucleotide variant Uncertain significance rs747547917 GRCh37 Chromosome 11, 4112642: 4112642
30 STIM1 NM_003156.3(STIM1): c.1672C> T (p.Arg558Trp) single nucleotide variant Uncertain significance rs747547917 GRCh38 Chromosome 11, 4091412: 4091412
31 STIM1 NM_003156.3(STIM1): c.57G> C (p.Gln19His) single nucleotide variant Uncertain significance rs1554949765 GRCh37 Chromosome 11, 3877557: 3877557
32 STIM1 NM_003156.3(STIM1): c.57G> C (p.Gln19His) single nucleotide variant Uncertain significance rs1554949765 GRCh38 Chromosome 11, 3856327: 3856327
33 STIM1 NM_003156.3(STIM1): c.488C> A (p.Ala163Asp) single nucleotide variant Uncertain significance rs199893056 GRCh37 Chromosome 11, 4076858: 4076858
34 STIM1 NM_003156.3(STIM1): c.488C> A (p.Ala163Asp) single nucleotide variant Uncertain significance rs199893056 GRCh38 Chromosome 11, 4055628: 4055628
35 STIM1 NM_003156.3(STIM1): c.597C> A (p.Leu199=) single nucleotide variant Benign/Likely benign rs189905382 GRCh37 Chromosome 11, 4080610: 4080610
36 STIM1 NM_003156.3(STIM1): c.597C> A (p.Leu199=) single nucleotide variant Benign/Likely benign rs189905382 GRCh38 Chromosome 11, 4059380: 4059380
37 STIM1 NM_003156.3(STIM1): c.1238+9C> T single nucleotide variant Likely benign rs375604403 GRCh37 Chromosome 11, 4104221: 4104221
38 STIM1 NM_003156.3(STIM1): c.1238+9C> T single nucleotide variant Likely benign rs375604403 GRCh38 Chromosome 11, 4082991: 4082991
39 STIM1 NM_003156.3(STIM1): c.1425C> T (p.Asp475=) single nucleotide variant Likely benign rs200776986 GRCh37 Chromosome 11, 4104679: 4104679
40 STIM1 NM_003156.3(STIM1): c.1425C> T (p.Asp475=) single nucleotide variant Likely benign rs200776986 GRCh38 Chromosome 11, 4083449: 4083449
41 STIM1 NM_003156.3(STIM1): c.1541+287G> A single nucleotide variant Benign rs562406813 GRCh37 Chromosome 11, 4108060: 4108060
42 STIM1 NM_003156.3(STIM1): c.1541+287G> A single nucleotide variant Benign rs562406813 GRCh38 Chromosome 11, 4086830: 4086830
43 STIM1 NM_003156.3(STIM1): c.1712A> G (p.Lys571Arg) single nucleotide variant Uncertain significance rs1554972161 GRCh37 Chromosome 11, 4112682: 4112682
44 STIM1 NM_003156.3(STIM1): c.1712A> G (p.Lys571Arg) single nucleotide variant Uncertain significance rs1554972161 GRCh38 Chromosome 11, 4091452: 4091452
45 STIM1 NM_003156.3(STIM1): c.2049T> A (p.Leu683=) single nucleotide variant Likely benign rs199935070 GRCh37 Chromosome 11, 4113019: 4113019
46 STIM1 NM_003156.3(STIM1): c.2049T> A (p.Leu683=) single nucleotide variant Likely benign rs199935070 GRCh38 Chromosome 11, 4091789: 4091789
47 STIM1 NM_003156.3(STIM1): c.234T> C (p.Asp78=) single nucleotide variant Benign rs146126071 GRCh38 Chromosome 11, 3967646: 3967646
48 STIM1 NM_003156.3(STIM1): c.234T> C (p.Asp78=) single nucleotide variant Benign rs146126071 GRCh37 Chromosome 11, 3988876: 3988876
49 STIM1 NM_003156.3(STIM1): c.861C> T (p.Arg287=) single nucleotide variant Benign rs16929446 GRCh38 Chromosome 11, 4074571: 4074571
50 STIM1 NM_003156.3(STIM1): c.861C> T (p.Arg287=) single nucleotide variant Benign rs16929446 GRCh37 Chromosome 11, 4095801: 4095801

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

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75 UMLS via Orphanet
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