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IMD9
MCID: IMM066
MIFTS: 25

Immunodeficiency 9 (IMD9)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Immunodeficiency 9

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MalaCards integrated aliases for Immunodeficiency 9:

Name: Immunodeficiency 9 58 76
Immune Dysfunction with T-Cell Inactivation Due to Calcium Entry Defect 1 58 54 76 30 13 6 41 74
Imd9 58 76
Severe Combined Immunodeficiency Due to Crac Channel Dysfunction 76
Combined Immunodeficiency Due to Orai1 Deficiency 60
Cid Due to Orai1 Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
combined immunodeficiency due to orai1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in the neonatal period
early death may occur without bone marrow transplant


HPO:

33
immunodeficiency 9:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare immunological diseases


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Summaries for Immunodeficiency 9

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UniProtKB/Swiss-Prot : 76 Immunodeficiency 9: An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhidrosis and non-progressive myopathy may be observed.

MalaCards based summary : Immunodeficiency 9, also known as immune dysfunction with t-cell inactivation due to calcium entry defect 1, is related to autoimmune lymphoproliferative syndrome, type iii. An important gene associated with Immunodeficiency 9 is ORAI1 (ORAI Calcium Release-Activated Calcium Modulator 1). Affiliated tissues include t cells, bone and bone marrow, and related phenotypes are muscular hypotonia and failure to thrive

OMIM : 58 Immunodeficiency-9 is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel (summary by McCarl et al., 2009). (612782)

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Related Diseases for Immunodeficiency 9

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Diseases related to Immunodeficiency 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autoimmune lymphoproliferative syndrome, type iii 11.1

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Symptoms & Phenotypes for Immunodeficiency 9

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Human phenotypes related to Immunodeficiency 9:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 33 HP:0001252
2 failure to thrive 33 HP:0001508
3 myopathy 33 HP:0003198
4 respiratory insufficiency due to muscle weakness 33 HP:0002747
5 immunodeficiency 33 HP:0002721
6 recurrent infections 33 HP:0002719
7 difficulty walking 33 HP:0002355
8 amelogenesis imperfecta 33 HP:0000705
9 gowers sign 33 HP:0003391
10 recurrent aphthous stomatitis 33 HP:0011107
11 ectodermal dysplasia 33 HP:0000968
12 heat intolerance 33 HP:0002046
13 stomatitis 33 HP:0010280
14 recurrent fever 33 HP:0001954

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
muscular hypotonia
difficulty walking
proximal muscle weakness
gower sign
loss of ambulation
more
Respiratory:
respiratory insufficiency due to muscle weakness

Skin Nails Hair Skin:
heat intolerance
ectodermal dysplasia, anhidrotic

Metabolic Features:
intermittent fever

Growth Other:
failure to thrive

Immunology:
recurrent infections
impaired t cell activation
impaired t cell proliferative response
normal lymphocyte counts
normal serum immunoglobulin levels
more
Head And Neck Teeth:
dysplastic dental enamel
hypocalcified amelogenesis imperfecta

Head And Neck Mouth:
aphthous stomatitis

Clinical features from OMIM:

612782
Sources

Drugs & Therapeutics for Immunodeficiency 9

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Search Clinical Trials , NIH Clinical Center for Immunodeficiency 9

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Genetic Tests for Immunodeficiency 9

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Genetic tests related to Immunodeficiency 9:

# Genetic test Affiliating Genes
1 Immune Dysfunction with T-Cell Inactivation Due to Calcium Entry Defect 1 30 ORAI1
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Anatomical Context for Immunodeficiency 9

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MalaCards organs/tissues related to Immunodeficiency 9:

42
T Cells, Bone, Bone Marrow
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Publications for Immunodeficiency 9

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Articles related to Immunodeficiency 9:

# Title Authors Year
1
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. ( 20004786 )
2009
2
Dynamic coupling of the putative coiled-coil domain of ORAI1 with STIM1 mediates ORAI1 channel activation. ( 18187424 )
2008
3
A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. ( 16582901 )
2006
4
Severe combined immunodeficiency due to defective binding of the nuclear factor of activated T cells in T lymphocytes of two male siblings. ( 8814256 )
1996
5
A primary T-cell immunodeficiency associated with defective transmembrane calcium influx. ( 7531512 )
1995
6
The calcium current activated by T cell receptor and store depletion in human lymphocytes is absent in a primary immunodeficiency. ( 7798233 )
1994
Sources

Variations for Immunodeficiency 9

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UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 9:

76
# Symbol AA change Variation ID SNP ID
1 ORAI1 p.Arg91Trp VAR_026226 rs118203993

ClinVar genetic disease variations for Immunodeficiency 9:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 ORAI1 NM_032790.3(ORAI1): c.271C> T (p.Arg91Trp) single nucleotide variant Pathogenic rs118203993 GRCh37 Chromosome 12, 122064924: 122064924
2 ORAI1 NM_032790.3(ORAI1): c.271C> T (p.Arg91Trp) single nucleotide variant Pathogenic rs118203993 GRCh38 Chromosome 12, 121627018: 121627018
3 ORAI1 NM_032790.3(ORAI1): c.261dupA (p.Ala88Serfs) duplication Pathogenic rs878853261 GRCh37 Chromosome 12, 122064914: 122064914
4 ORAI1 NM_032790.3(ORAI1): c.261dupA (p.Ala88Serfs) duplication Pathogenic rs878853261 GRCh38 Chromosome 12, 121627008: 121627008
5 ORAI1 NM_032790.3(ORAI1): c.308C> A (p.Ala103Glu) single nucleotide variant Pathogenic rs786205890 GRCh37 Chromosome 12, 122078951: 122078951
6 ORAI1 NM_032790.3(ORAI1): c.308C> A (p.Ala103Glu) single nucleotide variant Pathogenic rs786205890 GRCh38 Chromosome 12, 121641045: 121641045
7 ORAI1 NM_032790.3(ORAI1): c.581T> C (p.Leu194Pro) single nucleotide variant Pathogenic rs782753385 GRCh37 Chromosome 12, 122079224: 122079224
8 ORAI1 NM_032790.3(ORAI1): c.581T> C (p.Leu194Pro) single nucleotide variant Pathogenic rs782753385 GRCh38 Chromosome 12, 121641318: 121641318
9 ORAI1 NC_000012.12: g.121626879_121626884delACCGCC deletion Conflicting interpretations of pathogenicity rs1555322544 GRCh37 Chromosome 12, 122064785: 122064790
10 ORAI1 NC_000012.12: g.121626879_121626884delACCGCC deletion Conflicting interpretations of pathogenicity rs1555322544 GRCh38 Chromosome 12, 121626879: 121626884
11 ORAI1 NM_032790.3(ORAI1): c.786T> C (p.Val262=) single nucleotide variant Benign rs3825174 GRCh38 Chromosome 12, 121641523: 121641523
12 ORAI1 NM_032790.3(ORAI1): c.786T> C (p.Val262=) single nucleotide variant Benign rs3825174 GRCh37 Chromosome 12, 122079429: 122079429
13 ORAI1 NM_032790.3(ORAI1): c.652A> G (p.Ser218Gly) single nucleotide variant Benign rs3741596 GRCh37 Chromosome 12, 122079295: 122079295
14 ORAI1 NM_032790.3(ORAI1): c.652A> G (p.Ser218Gly) single nucleotide variant Benign rs3741596 GRCh38 Chromosome 12, 121641389: 121641389
15 ORAI1 NM_032790.3(ORAI1): c.705T> C (p.Ala235=) single nucleotide variant Benign rs3741597 GRCh37 Chromosome 12, 122079348: 122079348
16 ORAI1 NM_032790.3(ORAI1): c.705T> C (p.Ala235=) single nucleotide variant Benign rs3741597 GRCh38 Chromosome 12, 121641442: 121641442
17 ORAI1 NM_032790.3(ORAI1): c.140C> T (p.Pro47Leu) single nucleotide variant Uncertain significance rs781855511 GRCh37 Chromosome 12, 122064793: 122064793
18 ORAI1 NM_032790.3(ORAI1): c.140C> T (p.Pro47Leu) single nucleotide variant Uncertain significance rs781855511 GRCh38 Chromosome 12, 121626887: 121626887
19 ORAI1 NM_032790.3(ORAI1): c.132_137dup (p.Pro47_Ser48insProPro) duplication Likely benign rs1555322544 GRCh38 Chromosome 12, 121626879: 121626884
20 ORAI1 NM_032790.3(ORAI1): c.132_137dup (p.Pro47_Ser48insProPro) duplication Likely benign rs1555322544 GRCh37 Chromosome 12, 122064785: 122064790
21 ORAI1 NM_032790.3(ORAI1): c.144_150dup (p.Thr51Argfs) duplication Uncertain significance rs1555322554 GRCh37 Chromosome 12, 122064797: 122064803
22 ORAI1 NM_032790.3(ORAI1): c.144_150dup (p.Thr51Argfs) duplication Uncertain significance rs1555322554 GRCh38 Chromosome 12, 121626891: 121626897
23 ORAI1 NM_032790.3(ORAI1) insertion Pathogenic rs1555322558 GRCh38 Chromosome 12, 121626888: 121626889
24 ORAI1 NM_032790.3(ORAI1) insertion Pathogenic rs1555322558 GRCh37 Chromosome 12, 122064794: 122064795
25 ORAI1 NM_032790.3(ORAI1): c.49C> T (p.Pro17Ser) single nucleotide variant Likely benign rs568054544 GRCh38 Chromosome 12, 121626791: 121626791
26 ORAI1 NM_032790.3(ORAI1): c.49C> T (p.Pro17Ser) single nucleotide variant Likely benign rs568054544 GRCh37 Chromosome 12, 122064696: 122064696
27 ORAI1 NM_032790.3(ORAI1): c.100A> C (p.Ser34Arg) single nucleotide variant Uncertain significance rs781829024 GRCh38 Chromosome 12, 121626842: 121626842
28 ORAI1 NM_032790.3(ORAI1): c.100A> C (p.Ser34Arg) single nucleotide variant Uncertain significance rs781829024 GRCh37 Chromosome 12, 122064747: 122064747
29 ORAI1 NM_032790.3(ORAI1): c.668A> G (p.Asn223Ser) single nucleotide variant Likely benign rs75603737 GRCh38 Chromosome 12, 121641405: 121641405
30 ORAI1 NM_032790.3(ORAI1): c.668A> G (p.Asn223Ser) single nucleotide variant Likely benign rs75603737 GRCh37 Chromosome 12, 122079311: 122079311
31 ORAI1 NM_032790.3(ORAI1): c.115C> G (p.Pro39Ala) single nucleotide variant Uncertain significance rs782531427 GRCh38 Chromosome 12, 121626857: 121626857
32 ORAI1 NM_032790.3(ORAI1): c.115C> G (p.Pro39Ala) single nucleotide variant Uncertain significance rs782531427 GRCh37 Chromosome 12, 122064762: 122064762
33 ORAI1 NM_032790.3(ORAI1): c.212T> G (p.Met71Arg) single nucleotide variant Uncertain significance rs1286173837 GRCh38 Chromosome 12, 121626959: 121626959
34 ORAI1 NM_032790.3(ORAI1): c.212T> G (p.Met71Arg) single nucleotide variant Uncertain significance rs1286173837 GRCh37 Chromosome 12, 122064865: 122064865
35 ORAI1 NM_032790.3(ORAI1): c.85_99dup (p.Arg33_Ser34insArgSerArgArgArg) duplication Uncertain significance rs1372064351 GRCh37 Chromosome 12, 122064732: 122064746
36 ORAI1 NM_032790.3(ORAI1): c.85_99dup (p.Arg33_Ser34insArgSerArgArgArg) duplication Uncertain significance rs1372064351 GRCh38 Chromosome 12, 121626827: 121626841
37 ORAI1 NM_032790.3(ORAI1): c.783G> A (p.Leu261=) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 122079426: 122079426
38 ORAI1 NM_032790.3(ORAI1): c.783G> A (p.Leu261=) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 121641520: 121641520
39 ORAI1 NM_032790.3(ORAI1): c.845T> A (p.Leu282Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 122079488: 122079488
40 ORAI1 NM_032790.3(ORAI1): c.845T> A (p.Leu282Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 121641582: 121641582
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Expression for Immunodeficiency 9

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Search GEO for disease gene expression data for Immunodeficiency 9.
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Pathways for Immunodeficiency 9

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GO Terms for Immunodeficiency 9

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Sources for Immunodeficiency 9

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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