MCID: IMM148
MIFTS: 13

Immunodeficiency 44

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 44

MalaCards integrated aliases for Immunodeficiency 44:

Name: Immunodeficiency 44 57 75 29 6
Imd44 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
immunodeficiency 44:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 57 616636
MeSH 44 D007153
SNOMED-CT via HPO 69 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)

MalaCards based summary : Immunodeficiency 44, is also known as imd44. An important gene associated with Immunodeficiency 44 is STAT2 (Signal Transducer And Activator Of Transcription 2). Related phenotype is encephalopathy.

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Immunodeficiency 44

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
abnormally long mitochondria seen on muscle biopsy

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

Neurologic Central Nervous System:
encephalopathy (in some patients)
neurologic decompensation, infection-associated (in some patients)

Laboratory Abnormalities:
increased plasma lactate (in some patients)


Clinical features from OMIM:

616636

Human phenotypes related to Immunodeficiency 44:

32
# Description HPO Frequency HPO Source Accession
1 encephalopathy 32 occasional (7.5%) HP:0001298

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

Variations for Immunodeficiency 44

ClinVar genetic disease variations for Immunodeficiency 44:

6
(show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 STAT2 NM_005419.3(STAT2): c.381+5G> C single nucleotide variant Pathogenic rs281874770 GRCh38 Chromosome 12, 56355703: 56355703
2 STAT2 NM_005419.3(STAT2): c.381+5G> C single nucleotide variant Pathogenic rs281874770 GRCh37 Chromosome 12, 56749487: 56749487
3 STAT2 NM_005419.3(STAT2): c.1836C> A (p.Cys612Ter) single nucleotide variant Pathogenic rs781522558 GRCh37 Chromosome 12, 56740628: 56740628
4 STAT2 NM_005419.3(STAT2): c.1836C> A (p.Cys612Ter) single nucleotide variant Pathogenic rs781522558 GRCh38 Chromosome 12, 56346844: 56346844
5 STAT2 NM_005419.3(STAT2): c.1782G> C (p.Met594Ile) single nucleotide variant Benign rs2066807 GRCh37 Chromosome 12, 56740682: 56740682
6 STAT2 NM_005419.3(STAT2): c.1782G> C (p.Met594Ile) single nucleotide variant Benign rs2066807 GRCh38 Chromosome 12, 56346898: 56346898
7 STAT2 NM_005419.3(STAT2): c.759C> T (p.His253=) single nucleotide variant Benign/Likely benign rs147605088 GRCh37 Chromosome 12, 56748273: 56748273
8 STAT2 NM_005419.3(STAT2): c.759C> T (p.His253=) single nucleotide variant Benign/Likely benign rs147605088 GRCh38 Chromosome 12, 56354489: 56354489
9 STAT2 NM_005419.3(STAT2): c.1390A> G (p.Ile464Val) single nucleotide variant Benign rs2066811 GRCh37 Chromosome 12, 56742997: 56742997
10 STAT2 NM_005419.3(STAT2): c.1390A> G (p.Ile464Val) single nucleotide variant Benign rs2066811 GRCh38 Chromosome 12, 56349213: 56349213
11 STAT2 NM_005419.3(STAT2): c.165G> A (p.Lys55=) single nucleotide variant Benign rs199622368 GRCh37 Chromosome 12, 56750036: 56750036
12 STAT2 NM_005419.3(STAT2): c.165G> A (p.Lys55=) single nucleotide variant Benign rs199622368 GRCh38 Chromosome 12, 56356252: 56356252
13 STAT2 NM_005419.3(STAT2): c.116T> C (p.Ile39Thr) single nucleotide variant Uncertain significance rs757152982 GRCh38 Chromosome 12, 56356456: 56356456
14 STAT2 NM_005419.3(STAT2): c.116T> C (p.Ile39Thr) single nucleotide variant Uncertain significance rs757152982 GRCh37 Chromosome 12, 56750240: 56750240
15 STAT2 NM_005419.3(STAT2): c.2478G> T (p.Gln826His) single nucleotide variant Benign rs2229363 GRCh38 Chromosome 12, 56343467: 56343467
16 STAT2 NM_005419.3(STAT2): c.2478G> T (p.Gln826His) single nucleotide variant Benign rs2229363 GRCh37 Chromosome 12, 56737251: 56737251
17 STAT2 NM_005419.3(STAT2): c.400C> T (p.Leu134Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 56749298: 56749298
18 STAT2 NM_005419.3(STAT2): c.400C> T (p.Leu134Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 56355514: 56355514
19 STAT2 NM_005419.3(STAT2): c.2472_2473delTGinsCT (p.Gly825Cys) indel Benign GRCh38 Chromosome 12, 56343472: 56343473
20 STAT2 NM_005419.3(STAT2): c.2472_2473delTGinsCT (p.Gly825Cys) indel Benign GRCh37 Chromosome 12, 56737256: 56737257
21 STAT2 NM_005419.3(STAT2): c.1343C> T (p.Thr448Met) single nucleotide variant Benign rs2066815 GRCh38 Chromosome 12, 56349260: 56349260
22 STAT2 NM_005419.3(STAT2): c.1343C> T (p.Thr448Met) single nucleotide variant Benign rs2066815 GRCh37 Chromosome 12, 56743044: 56743044
23 STAT2 NM_005419.3(STAT2): c.379T> C (p.Leu127=) single nucleotide variant Benign rs2066812 GRCh38 Chromosome 12, 56355710: 56355710
24 STAT2 NM_005419.3(STAT2): c.379T> C (p.Leu127=) single nucleotide variant Benign rs2066812 GRCh37 Chromosome 12, 56749494: 56749494
25 STAT2 NC_000012.12: g.(?_56343369)_(56356591_?)dup duplication Uncertain significance GRCh38 Chromosome 12, 56343369: 56356591
26 STAT2 NC_000012.12: g.(?_56343369)_(56356591_?)dup duplication Uncertain significance GRCh37 Chromosome 12, 56737153: 56750375
27 STAT2 NM_005419.3(STAT2): c.2044+10G> A single nucleotide variant Likely benign rs752483816 GRCh38 Chromosome 12, 56346432: 56346432
28 STAT2 NM_005419.3(STAT2): c.2044+10G> A single nucleotide variant Likely benign rs752483816 GRCh37 Chromosome 12, 56740216: 56740216
29 STAT2 NM_005419.3(STAT2): c.1301C> T (p.Thr434Met) single nucleotide variant Uncertain significance rs146115536 GRCh38 Chromosome 12, 56349466: 56349466
30 STAT2 NM_005419.3(STAT2): c.1301C> T (p.Thr434Met) single nucleotide variant Uncertain significance rs146115536 GRCh37 Chromosome 12, 56743250: 56743250
31 STAT2 NM_005419.3(STAT2): c.2004C> G (p.Ile668Met) single nucleotide variant Uncertain significance rs199528062 GRCh37 Chromosome 12, 56740266: 56740266
32 STAT2 NM_005419.3(STAT2): c.2004C> G (p.Ile668Met) single nucleotide variant Uncertain significance rs199528062 GRCh38 Chromosome 12, 56346482: 56346482
33 STAT2 NM_005419.3(STAT2): c.1727G> T (p.Arg576Leu) single nucleotide variant Uncertain significance rs200944055 GRCh38 Chromosome 12, 56346953: 56346953
34 STAT2 NM_005419.3(STAT2): c.1727G> T (p.Arg576Leu) single nucleotide variant Uncertain significance rs200944055 GRCh37 Chromosome 12, 56740737: 56740737
35 STAT2 NM_005419.3(STAT2): c.285+5T> C single nucleotide variant Likely benign rs79264292 GRCh38 Chromosome 12, 56356127: 56356127
36 STAT2 NM_005419.3(STAT2): c.285+5T> C single nucleotide variant Likely benign rs79264292 GRCh37 Chromosome 12, 56749911: 56749911
37 STAT2 NM_005419.3(STAT2): c.1326G> A (p.Leu442=) single nucleotide variant Benign rs529406351 GRCh38 Chromosome 12, 56349441: 56349441
38 STAT2 NM_005419.3(STAT2): c.1326G> A (p.Leu442=) single nucleotide variant Benign rs529406351 GRCh37 Chromosome 12, 56743225: 56743225
39 STAT2 NM_005419.3(STAT2): c.2044+9C> T single nucleotide variant Likely benign rs200444661 GRCh38 Chromosome 12, 56346433: 56346433
40 STAT2 NM_005419.3(STAT2): c.2044+9C> T single nucleotide variant Likely benign rs200444661 GRCh37 Chromosome 12, 56740217: 56740217
41 STAT2 NM_005419.3(STAT2): c.1629+7C> T single nucleotide variant Likely benign GRCh38 Chromosome 12, 56348745: 56348745
42 STAT2 NM_005419.3(STAT2): c.1629+7C> T single nucleotide variant Likely benign GRCh37 Chromosome 12, 56742529: 56742529
43 STAT2 NM_005419.3(STAT2): c.903C> T (p.Asn301=) single nucleotide variant Likely benign rs145152331 GRCh38 Chromosome 12, 56351330: 56351330
44 STAT2 NM_005419.3(STAT2): c.903C> T (p.Asn301=) single nucleotide variant Likely benign rs145152331 GRCh37 Chromosome 12, 56745114: 56745114

Expression for Immunodeficiency 44

Search GEO for disease gene expression data for Immunodeficiency 44.

Pathways for Immunodeficiency 44

GO Terms for Immunodeficiency 44

Sources for Immunodeficiency 44

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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