Immunodeficiency 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Immunodeficiency 9

MalaCards integrated aliases for Immunodeficiency 9:

Name: Immunodeficiency 9 ⁵⁶ ⁷³

Immune Dysfunction with T-Cell Inactivation Due to Calcium Entry Defect 1 ⁵⁶ ⁵² ⁷³ ²⁹ ¹³ ⁶ ³⁹ ⁷¹

Imd9 ⁵⁶ ⁷³

Severe Combined Immunodeficiency Due to Crac Channel Dysfunction ⁷³

Combined Immunodeficiency Due to Orai1 Deficiency ⁵⁸

Cid Due to Orai1 Deficiency ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

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: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Combined immunodeficiencies

Other combined immunodeficiencies

Orphanet: ⁵⁸

Rare immunological diseases

External Ids:

OMIM ⁵⁶ 612782

OMIM Phenotypic Series ⁵⁶ PS300755

MeSH ⁴³ D007153

ICD10 via Orphanet ³³ D81.8

Orphanet ⁵⁸ ORPHA317428

MedGen ⁴¹ C2748568

UMLS ⁷¹ C2748568

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Summaries for Immunodeficiency 9

UniProtKB/Swiss-Prot : ⁷³ 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 failure to thrive and muscular hypotonia

OMIM : ⁵⁶ 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

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	11.2

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Symptoms & Phenotypes for Immunodeficiency 9

Human phenotypes related to Immunodeficiency 9:

³¹ (show all 14)

#	Description	HPO Source Accession
1	failure to thrive ³¹	HP:0001508
2	muscular hypotonia ³¹	HP:0001252
3	myopathy ³¹	HP:0003198
4	respiratory insufficiency due to muscle weakness ³¹	HP:0002747
5	immunodeficiency ³¹	HP:0002721
6	recurrent infections ³¹	HP:0002719
7	difficulty walking ³¹	HP:0002355
8	amelogenesis imperfecta ³¹	HP:0000705
9	gowers sign ³¹	HP:0003391
10	recurrent aphthous stomatitis ³¹	HP:0011107
11	ectodermal dysplasia ³¹	HP:0000968
12	heat intolerance ³¹	HP:0002046
13	stomatitis ³¹	HP:0010280
14	recurrent fever ³¹	HP:0001954

Symptoms via clinical synopsis from OMIM:

⁵⁶

Growth Other:
failure to thrive

Respiratory:
respiratory insufficiency due to muscle weakness

Skin Nails Hair Skin:
heat intolerance
ectodermal dysplasia, anhidrotic

Metabolic Features:
intermittent fever

Muscle Soft Tissue:
muscular hypotonia
difficulty walking
proximal muscle weakness
gowers sign
loss of ambulation
more

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

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Drugs & Therapeutics for Immunodeficiency 9

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Effects of Short-chain Fatty Acids, Here Sodium Propionate, a Metabolism Product of the Human Gut-microbiome, on Inflammatory and Metabolic Parameters in Patients on Maintenance Hemodialysis - a Pilot Study	Unknown status	NCT02976688	Phase 2, Phase 3

Search NIH Clinical Center for Immunodeficiency 9

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Genetic Tests for Immunodeficiency 9

Genetic tests related to Immunodeficiency 9:

#	Genetic test	Affiliating Genes
1	Immune Dysfunction with T-Cell Inactivation Due to Calcium Entry Defect 1 ²⁹	ORAI1

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Anatomical Context for Immunodeficiency 9

MalaCards organs/tissues related to Immunodeficiency 9:

⁴⁰

T Cells, Bone, Bone Marrow, Lung

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Publications for Immunodeficiency 9

Articles related to Immunodeficiency 9:

(show all 14)

#	Title	Authors	PMID	Year
1	ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. ⁵⁶ ⁶	McCarl CA...Feske S	20004786	2009
2	A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. ⁵⁶ ⁶	Feske S...Rao A	16582901	2006
3	Severe combined immunodeficiency due to defective binding of the nuclear factor of activated T cells in T lymphocytes of two male siblings. ⁵⁶ ⁶	Feske S...Schlesier M	8814256	1996
4	A primary T-cell immunodeficiency associated with defective transmembrane calcium influx. ⁵⁶ ⁶	Le Deist F...Fischer A	7531512	1995
5	The calcium current activated by T cell receptor and store depletion in human lymphocytes is absent in a primary immunodeficiency. ⁵⁶ ⁶	Partiseti M...Choquet D	7798233	1994
6	Dynamic coupling of the putative coiled-coil domain of ORAI1 with STIM1 mediates ORAI1 channel activation. ⁶	Muik M...Romanin C	18187424	2008
7	The duration of nuclear residence of NFAT determines the pattern of cytokine expression in human SCID T cells. ⁵⁶	Feske S...Rao A	10861065	2000
8	Primary severe immunodeficiency due to impaired signal transduction in T cells. ⁵⁶	Schlesier M...Peter HH	8167687	1993
9	Development of a Low-Cost Stem-Loop Real-Time Quantification PCR Technique for EBV miRNA Expression Analysis. ⁶¹	Bergallo M...Tovo PA	27246439	2016
10	Progression of Common Variable Immunodeficiency Interstitial Lung Disease Accompanies Distinct Pulmonary and Laboratory Findings. ⁶¹	Maglione PJ...Cunningham-Rundles C	26372540	2015
11	Inpatient allergy/immunology consultations in a tertiary care setting. ⁶¹	Otto HF...Quinn JM	20615326	2010
12	Pre-existing disease is associated with a significantly higher risk of death in severe respiratory syncytial virus infection. ⁶¹	Thorburn K	18653625	2009
13	Effect of intravenous immunoglobulins on in vitro immunoglobulin formation in patients with antibody immunodeficiency. ⁶¹	Kratka Z...Fucikova T	12076273	2002
14	Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children. ⁶¹	Ryser O...Hitzig WH	3065352	1988

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Genes for Immunodeficiency 9

Genes related to Immunodeficiency 9 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ORAI1	ORAI Calcium Release-Activated Calcium Modulator 1	Protein Coding	1665.91	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	8814256 7798233 16582901 (more) 7531512 18187424 20004786

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Variations for Immunodeficiency 9

ClinVar genetic disease variations for Immunodeficiency 9:

⁶ (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ORAI1	NM_032790.3(ORAI1):c.261dup (p.Ala88fs)	duplication	Pathogenic	192286	rs878853261	12:122064911-122064912	12:121627005-121627006
2	ORAI1	NM_032790.3(ORAI1):c.308C>A (p.Ala103Glu)	SNV	Pathogenic	192287	rs786205890	12:122078951-122078951	12:121641045-121641045
3	ORAI1	NM_032790.3(ORAI1):c.581T>C (p.Leu194Pro)	SNV	Pathogenic	192288	rs782753385	12:122079224-122079224	12:121641318-121641318
4	ORAI1	NM_032790.3(ORAI1):c.271C>T (p.Arg91Trp)	SNV	Pathogenic	1283	rs118203993	12:122064924-122064924	12:121627018-121627018
5	ORAI1	NM_032790.3(ORAI1):c.141_142insCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC (p.Ser48fs)	insertion	Pathogenic	470188	rs1555322558	12:122064794-122064795	12:121626888-121626889
6	ORAI1	NM_032790.3(ORAI1):c.546del (p.Ile182fs)	deletion	Likely pathogenic	639606		12:122079189-122079189	12:121641283-121641283
7	ORAI1	NM_032790.3(ORAI1):c.100A>C (p.Ser34Arg)	SNV	Conflicting interpretations of pathogenicity	541941	rs781829024	12:122064747-122064747	12:121626842-121626842
8	ORAI1	NC_000012.12:g.121626879_121626884delACCGCC	deletion	Conflicting interpretations of pathogenicity	193469	rs1555322544	12:122064785-122064790	12:121626879-121626884
9	ORAI1	NM_032790.3(ORAI1):c.115C>G (p.Pro39Ala)	SNV	Uncertain significance	541940	rs782531427	12:122064762-122064762	12:121626857-121626857
10	ORAI1	NM_032790.3(ORAI1):c.212T>G (p.Met71Arg)	SNV	Uncertain significance	541942	rs1286173837	12:122064865-122064865	12:121626959-121626959
11	ORAI1	NM_032790.3(ORAI1):c.85_99dup (p.Arg29_Arg33dup)	duplication	Uncertain significance	541943	rs1372064351	12:122064726-122064727	12:121626821-121626822
12	ORAI1	NM_032790.3(ORAI1):c.783G>A (p.Leu261=)	SNV	Uncertain significance	569389	rs781878981	12:122079426-122079426	12:121641520-121641520
13	ORAI1	NM_032790.3(ORAI1):c.845T>A (p.Leu282Ter)	SNV	Uncertain significance	565877	rs1566472954	12:122079488-122079488	12:121641582-121641582
14	ORAI1	NM_032790.3(ORAI1):c.6T>G (p.His2Gln)	SNV	Uncertain significance	644104		12:122064653-122064653	12:121626748-121626748
15	ORAI1	NM_032790.3(ORAI1):c.7C>T (p.Pro3Ser)	SNV	Uncertain significance	662981		12:122064654-122064654	12:121626749-121626749
16	ORAI1	NM_032790.3(ORAI1):c.37A>T (p.Ser13Cys)	SNV	Uncertain significance	652118		12:122064684-122064684	12:121626779-121626779
17	ORAI1	NM_032790.3(ORAI1):c.113_121del (p.Glu38_Pro40del)	deletion	Uncertain significance	650573		12:122064758-122064766	12:121626853-121626861
18	ORAI1	NM_032790.3(ORAI1):c.114G>T (p.Glu38Asp)	SNV	Uncertain significance	660638		12:122064761-122064761	12:121626856-121626856
19	ORAI1	NM_032790.3(ORAI1):c.700G>A (p.Ala234Thr)	SNV	Uncertain significance	664256		12:122079343-122079343	12:121641437-121641437
20	ORAI1	NM_032790.3(ORAI1):c.140C>T (p.Pro47Leu)	SNV	Uncertain significance	430344	rs781855511	12:122064793-122064793	12:121626887-121626887
21	ORAI1	NM_032790.3(ORAI1):c.137_143CGCCGTC[3] (p.Thr51fs)	short repeat	Uncertain significance	475180	rs1555322554	12:122064788-122064789	12:121626882-121626883
22	ORAI1	NM_032790.3(ORAI1):c.132_137dup (p.Pro46_Pro47dup)	duplication	Likely benign	475179	rs1555322544	12:122064772-122064773	12:121626873-121626874
23	ORAI1	NM_032790.3(ORAI1):c.786T>C (p.Val262=)	SNV	Benign	379438	rs3825174	12:122079429-122079429	12:121641523-121641523
24	ORAI1	NM_032790.3(ORAI1):c.652A>G (p.Ser218Gly)	SNV	Benign	379436	rs3741596	12:122079295-122079295	12:121641389-121641389
25	ORAI1	NM_032790.3(ORAI1):c.705T>C (p.Ala235=)	SNV	Benign	379437	rs3741597	12:122079348-122079348	12:121641442-121641442

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

⁷³

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

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Expression for Immunodeficiency 9

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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Immunodeficiency 9 (IMD9)

Aliases & Classifications for Immunodeficiency 9

MalaCards integrated aliases for Immunodeficiency 9:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency 9

Related Diseases for Immunodeficiency 9

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

Symptoms & Phenotypes for Immunodeficiency 9

Human phenotypes related to Immunodeficiency 9:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Immunodeficiency 9

Interventional clinical trials:

Genetic Tests for Immunodeficiency 9

Genetic tests related to Immunodeficiency 9:

Anatomical Context for Immunodeficiency 9

MalaCards organs/tissues related to Immunodeficiency 9:

Publications for Immunodeficiency 9

Articles related to Immunodeficiency 9:

Genes for Immunodeficiency 9

Genes related to Immunodeficiency 9 (1 elite genes):

Variations for Immunodeficiency 9

ClinVar genetic disease variations for Immunodeficiency 9:

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

Expression for Immunodeficiency 9

Pathways for Immunodeficiency 9

GO Terms for Immunodeficiency 9

Sources for Immunodeficiency 9