IMD44
MCID: IMM148
MIFTS: 31

Immunodeficiency 44 (IMD44)

Categories: Genetic diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Immunodeficiency 44

MalaCards integrated aliases for Immunodeficiency 44:

Name: Immunodeficiency 44 57 12 72 29 6
Imd44 57 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
two unrelated families have been reported (last curated november 2015)
multisystem decompensation in response to viral infection


HPO:

31
immunodeficiency 44:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0111975
OMIM® 57 616636
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
SNOMED-CT via HPO 68 258211005 81308009

Summaries for Immunodeficiency 44

OMIM® : 57 Immunodeficiency-44 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by Shahni et al., 2015). (616636) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency 44, also known as imd44, is related to primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection and measles. An important gene associated with Immunodeficiency 44 is STAT2 (Signal Transducer And Activator Of Transcription 2), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Human cytomegalovirus infection. Related phenotype is encephalopathy.

Disease Ontology : 12 A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has material basis in homozygous or compound heterozygous mutation in STAT2 on chromosome 12q13.3.

UniProtKB/Swiss-Prot : 72 Immunodeficiency 44: An autosomal recessive disorder characterized by increased susceptibility to viral infection, resulting in some patients in encephalopathy and infection-associated neurologic decompensation.

Related Diseases for Immunodeficiency 44

Diseases related to Immunodeficiency 44 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 9.7 STAT2 IFNAR2
2 measles 9.7 STAT2 IFNAR2
3 mumps 9.7 STAT2 IFNAR2
4 microphthalmia with limb anomalies 9.7 STAT2 IFNAR2
5 aicardi-goutieres syndrome 9.6 STAT2 IFNAR2
6 viral infectious disease 9.6 STAT2 IFNAR2
7 noonan syndrome 1 9.5 STAT2 IFNAR2

Graphical network of the top 20 diseases related to Immunodeficiency 44:



Diseases related to Immunodeficiency 44

Symptoms & Phenotypes for Immunodeficiency 44

Human phenotypes related to Immunodeficiency 44:

31
# Description HPO Frequency HPO Source Accession
1 encephalopathy 31 occasional (7.5%) HP:0001298

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
encephalopathy (in some patients)
neurologic decompensation, infection-associated (in some patients)

Immunology:
increased susceptibility to certain viral infections
normal serologic immunoglobulin production to vaccination
impaired antiviral response to alpha-interferon signaling

Muscle Soft Tissue:
abnormally long mitochondria seen on muscle biopsy

Laboratory Abnormalities:
increased plasma lactate (in some patients)

Clinical features from OMIM®:

616636 (Updated 05-Apr-2021)

Drugs & Therapeutics for Immunodeficiency 44

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 44

Genetic Tests for Immunodeficiency 44

Genetic tests related to Immunodeficiency 44:

# Genetic test Affiliating Genes
1 Immunodeficiency 44 29 STAT2

Anatomical Context for Immunodeficiency 44

Publications for Immunodeficiency 44

Articles related to Immunodeficiency 44:

# Title Authors PMID Year
1
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission. 6 57
26122121 2015
2
STAT2 deficiency and susceptibility to viral illness in humans. 6 57
23391734 2013

Variations for Immunodeficiency 44

ClinVar genetic disease variations for Immunodeficiency 44:

6 (show top 50) (show all 107)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAT2 NM_005419.4(STAT2):c.1999C>T (p.Arg667Ter) SNV Pathogenic 578415 rs1565648608 GRCh37: 12:56740271-56740271
GRCh38: 12:56346487-56346487
2 STAT2 NM_005419.4(STAT2):c.381+5G>C SNV Pathogenic 218140 rs281874770 GRCh37: 12:56749487-56749487
GRCh38: 12:56355703-56355703
3 STAT2 NM_005419.4(STAT2):c.1836C>A (p.Cys612Ter) SNV Pathogenic 218141 rs781522558 GRCh37: 12:56740628-56740628
GRCh38: 12:56346844-56346844
4 STAT2 NM_005419.4(STAT2):c.1791del (p.Leu599fs) Deletion Pathogenic 966700 GRCh37: 12:56740673-56740673
GRCh38: 12:56346889-56346889
5 IFNAR2 NM_001289125.3(IFNAR2):c.555_559del (p.Ile185fs) Deletion Pathogenic 976791 rs1312285586 GRCh37: 21:34624981-34624985
GRCh38: 21:33252676-33252680
6 IFNAR2 NM_001289125.3(IFNAR2):c.236del (p.Asp78_Leu79insTer) Deletion Pathogenic 977219 GRCh37: 21:34619035-34619035
GRCh38: 21:33246730-33246730
7 STAT2 NM_005419.4(STAT2):c.2555A>G (p.Ter852Trp) SNV Pathogenic 998372 GRCh37: 12:56737174-56737174
GRCh38: 12:56343390-56343390
8 STAT2 NM_005419.4(STAT2):c.1209+1del Deletion Pathogenic 663294 rs1592475699 GRCh37: 12:56743880-56743880
GRCh38: 12:56350096-56350096
9 STAT2 NM_005419.4(STAT2):c.820C>T (p.Gln274Ter) SNV Pathogenic 1028887 GRCh37: 12:56745197-56745197
GRCh38: 12:56351413-56351413
10 STAT2 NM_005419.4(STAT2):c.1435del (p.Leu479fs) Deletion Pathogenic 1032994 GRCh37: 12:56742952-56742952
GRCh38: 12:56349168-56349168
11 STAT2 NM_005419.4(STAT2):c.903C>T (p.Asn301=) SNV Conflicting interpretations of pathogenicity 542349 rs145152331 GRCh37: 12:56745114-56745114
GRCh38: 12:56351330-56351330
12 STAT2 NM_005419.4(STAT2):c.989G>A (p.Arg330Gln) SNV Uncertain significance 208666 rs149666262 GRCh37: 12:56744927-56744927
GRCh38: 12:56351143-56351143
13 STAT2 NM_005419.4(STAT2):c.2045-9T>G SNV Uncertain significance 1032995 GRCh37: 12:56739996-56739996
GRCh38: 12:56346212-56346212
14 STAT2 NM_005419.4(STAT2):c.970A>C (p.Met324Leu) SNV Uncertain significance 1034502 GRCh37: 12:56744946-56744946
GRCh38: 12:56351162-56351162
15 STAT2 NM_005419.4(STAT2):c.1766T>C (p.Leu589Pro) SNV Uncertain significance 1038763 GRCh37: 12:56740698-56740698
GRCh38: 12:56346914-56346914
16 STAT2 NM_005419.4(STAT2):c.874C>G (p.Pro292Ala) SNV Uncertain significance 1039389 GRCh37: 12:56745143-56745143
GRCh38: 12:56351359-56351359
17 STAT2 NM_005419.4(STAT2):c.2485G>A (p.Val829Met) SNV Uncertain significance 1039624 GRCh37: 12:56737244-56737244
GRCh38: 12:56343460-56343460
18 STAT2 NM_005419.4(STAT2):c.1745G>A (p.Ser582Asn) SNV Uncertain significance 1040423 GRCh37: 12:56740719-56740719
GRCh38: 12:56346935-56346935
19 STAT2 NM_005419.4(STAT2):c.2130_2135del (p.Glu711_Leu712del) Deletion Uncertain significance 1041807 GRCh37: 12:56737887-56737892
GRCh38: 12:56344103-56344108
20 STAT2 NM_005419.4(STAT2):c.1618G>A (p.Asp540Asn) SNV Uncertain significance 1045319 GRCh37: 12:56742547-56742547
GRCh38: 12:56348763-56348763
21 STAT2 NM_005419.4(STAT2):c.567C>A (p.Asp189Glu) SNV Uncertain significance 1047500 GRCh37: 12:56748628-56748628
GRCh38: 12:56354844-56354844
22 STAT2 NM_005419.4(STAT2):c.1903G>A (p.Val635Met) SNV Uncertain significance 838587 GRCh37: 12:56740367-56740367
GRCh38: 12:56346583-56346583
23 STAT2 NM_005419.4(STAT2):c.2060G>A (p.Arg687Gln) SNV Uncertain significance 841557 GRCh37: 12:56739972-56739972
GRCh38: 12:56346188-56346188
24 STAT2 NM_005419.4(STAT2):c.1466C>A (p.Pro489His) SNV Uncertain significance 845773 GRCh37: 12:56742818-56742818
GRCh38: 12:56349034-56349034
25 STAT2 NM_005419.4(STAT2):c.340G>A (p.Glu114Lys) SNV Uncertain significance 845939 GRCh37: 12:56749533-56749533
GRCh38: 12:56355749-56355749
26 STAT2 NM_005419.4(STAT2):c.1612T>C (p.Trp538Arg) SNV Uncertain significance 854396 GRCh37: 12:56742553-56742553
GRCh38: 12:56348769-56348769
27 STAT2 NM_005419.4(STAT2):c.1061A>G (p.Asn354Ser) SNV Uncertain significance 854610 GRCh37: 12:56744646-56744646
GRCh38: 12:56350862-56350862
28 STAT2 NM_005419.4(STAT2):c.2000G>A (p.Arg667Gln) SNV Uncertain significance 860056 GRCh37: 12:56740270-56740270
GRCh38: 12:56346486-56346486
29 STAT2 NM_005419.4(STAT2):c.724C>G (p.Gln242Glu) SNV Uncertain significance 943744 GRCh37: 12:56748308-56748308
GRCh38: 12:56354524-56354524
30 STAT2 NM_005419.4(STAT2):c.429T>A (p.His143Gln) SNV Uncertain significance 951576 GRCh37: 12:56749269-56749269
GRCh38: 12:56355485-56355485
31 STAT2 NM_005419.4(STAT2):c.633+6A>C SNV Uncertain significance 998419 GRCh37: 12:56748556-56748556
GRCh38: 12:56354772-56354772
32 STAT2 NM_005419.4(STAT2):c.2239C>A (p.Leu747Met) SNV Uncertain significance 999305 GRCh37: 12:56737783-56737783
GRCh38: 12:56343999-56343999
33 STAT2 NM_005419.4(STAT2):c.2284G>A (p.Val762Met) SNV Uncertain significance 1000096 GRCh37: 12:56737738-56737738
GRCh38: 12:56343954-56343954
34 STAT2 NM_005419.4(STAT2):c.1985G>A (p.Arg662His) SNV Uncertain significance 1001244 GRCh37: 12:56740285-56740285
GRCh38: 12:56346501-56346501
35 STAT2 NM_005419.4(STAT2):c.788C>T (p.Thr263Ile) SNV Uncertain significance 1007121 GRCh37: 12:56745229-56745229
GRCh38: 12:56351445-56351445
36 STAT2 NM_005419.4(STAT2):c.2004C>G (p.Ile668Met) SNV Uncertain significance 542346 rs199528062 GRCh37: 12:56740266-56740266
GRCh38: 12:56346482-56346482
37 STAT2 NM_005419.4(STAT2):c.109G>T (p.Val37Phe) SNV Uncertain significance 569571 rs144812882 GRCh37: 12:56750247-56750247
GRCh38: 12:56356463-56356463
38 STAT2 NM_005419.4(STAT2):c.250C>A (p.Gln84Lys) SNV Uncertain significance 636366 rs150901100 GRCh37: 12:56749951-56749951
GRCh38: 12:56356167-56356167
39 STAT2 NM_005419.4(STAT2):c.1088T>C (p.Ile363Thr) SNV Uncertain significance 652735 rs771226498 GRCh37: 12:56744619-56744619
GRCh38: 12:56350835-56350835
40 STAT2 NM_005419.4(STAT2):c.47A>G (p.Asp16Gly) SNV Uncertain significance 863237 GRCh37: 12:56750309-56750309
GRCh38: 12:56356525-56356525
41 STAT2 NM_005419.4(STAT2):c.2474G>A (p.Gly825Asp) SNV Uncertain significance 936063 GRCh37: 12:56737255-56737255
GRCh38: 12:56343471-56343471
42 STAT2 NM_005419.4(STAT2):c.124C>A (p.Gln42Lys) SNV Uncertain significance 948723 GRCh37: 12:56750232-56750232
GRCh38: 12:56356448-56356448
43 STAT2 NM_005419.4(STAT2):c.2236G>C (p.Asp746His) SNV Uncertain significance 1017584 GRCh37: 12:56737786-56737786
GRCh38: 12:56344002-56344002
44 STAT2 NM_005419.4(STAT2):c.381+3G>A SNV Uncertain significance 1018999 GRCh37: 12:56749489-56749489
GRCh38: 12:56355705-56355705
45 STAT2 NM_005419.4(STAT2):c.2008C>T (p.Arg670Trp) SNV Uncertain significance 1019714 GRCh37: 12:56740262-56740262
GRCh38: 12:56346478-56346478
46 STAT2 NM_005419.4(STAT2):c.2059C>T (p.Arg687Trp) SNV Uncertain significance 1021502 GRCh37: 12:56739973-56739973
GRCh38: 12:56346189-56346189
47 STAT2 NM_005419.4(STAT2):c.400C>T (p.Leu134Phe) SNV Uncertain significance 475694 rs1264238680 GRCh37: 12:56749298-56749298
GRCh38: 12:56355514-56355514
48 STAT2 NM_005419.4(STAT2):c.1727G>T (p.Arg576Leu) SNV Uncertain significance 542348 rs200944055 GRCh37: 12:56740737-56740737
GRCh38: 12:56346953-56346953
49 STAT2 NM_005419.4(STAT2):c.331C>T (p.Leu111Phe) SNV Uncertain significance 576314 rs199890161 GRCh37: 12:56749542-56749542
GRCh38: 12:56355758-56355758
50 STAT2 NM_005419.4(STAT2):c.1466C>T (p.Pro489Leu) SNV Uncertain significance 636365 rs138681270 GRCh37: 12:56742818-56742818
GRCh38: 12:56349034-56349034

Expression for Immunodeficiency 44

Search GEO for disease gene expression data for Immunodeficiency 44.

Pathways for Immunodeficiency 44

Pathways related to Immunodeficiency 44 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 STAT2 IFNAR2
2
Show member pathways
12.32 STAT2 IFNAR2
3 12.24 STAT2 IFNAR2
4
Show member pathways
12.2 STAT2 IFNAR2
5 12.17 STAT2 IFNAR2
6
Show member pathways
11.92 STAT2 IFNAR2
7
Show member pathways
11.8 STAT2 IFNAR2
8
Show member pathways
11.67 STAT2 IFNAR2
9 11.63 STAT2 IFNAR2
10
Show member pathways
11.55 STAT2 IFNAR2
11 11.36 STAT2 IFNAR2
12 11.11 STAT2 IFNAR2
13 10.7 STAT2 IFNAR2
14
Show member pathways
9.98 STAT2 IFNAR2

GO Terms for Immunodeficiency 44

Biological processes related to Immunodeficiency 44 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.26 STAT2 IFNAR2
2 defense response to virus GO:0051607 9.16 STAT2 IFNAR2
3 type I interferon signaling pathway GO:0060337 8.96 STAT2 IFNAR2
4 JAK-STAT cascade GO:0007259 8.62 STAT2 IFNAR2

Sources for Immunodeficiency 44

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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