IMD44
MCID: IMM148
MIFTS: 19

Immunodeficiency 44 (IMD44)

Categories: Genetic diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Immunodeficiency 44

MalaCards integrated aliases for Immunodeficiency 44:

Name: Immunodeficiency 44 56 73 29 6
Imd44 56 73

Characteristics:

OMIM:

56
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:

OMIM 56 616636
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153
SNOMED-CT via HPO 68 258211005 81308009

Summaries for Immunodeficiency 44

OMIM : 56 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 : 73 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

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:

56
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

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. 56 6
26122121 2015
2
STAT2 deficiency and susceptibility to viral illness in humans. 56 6
23391734 2013

Variations for Immunodeficiency 44

ClinVar genetic disease variations for Immunodeficiency 44:

6 (show all 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STAT2 NM_005419.4(STAT2):c.381+5G>CSNV Pathogenic 218140 rs281874770 12:56749487-56749487 12:56355703-56355703
2 STAT2 NM_005419.4(STAT2):c.1836C>A (p.Cys612Ter)SNV Pathogenic 218141 rs781522558 12:56740628-56740628 12:56346844-56346844
3 STAT2 NM_005419.4(STAT2):c.1999C>T (p.Arg667Ter)SNV Pathogenic 578415 rs1565648608 12:56740271-56740271 12:56346487-56346487
4 STAT2 NM_005419.4(STAT2):c.1209+1deldeletion Likely pathogenic 663294 12:56743880-56743880 12:56350096-56350096
5 STAT2 NM_005419.4(STAT2):c.989G>A (p.Arg330Gln)SNV Uncertain significance 208666 rs149666262 12:56744927-56744927 12:56351143-56351143
6 STAT2 NM_005419.4(STAT2):c.1294A>G (p.Ser432Gly)SNV Uncertain significance 573997 rs779466832 12:56743257-56743257 12:56349473-56349473
7 STAT2 NM_005419.4(STAT2):c.1957_1959GAG[1] (p.Glu654del)short repeat Uncertain significance 577456 rs775996290 12:56740308-56740310 12:56346524-56346526
8 STAT2 NM_005419.4(STAT2):c.1864A>C (p.Lys622Gln)SNV Uncertain significance 570403 rs151170889 12:56740406-56740406 12:56346622-56346622
9 STAT2 NM_005419.4(STAT2):c.34A>G (p.Ser12Gly)SNV Uncertain significance 626024 rs1565660719 12:56750322-56750322 12:56356538-56356538
10 STAT2 NM_005419.4(STAT2):c.1466C>T (p.Pro489Leu)SNV Uncertain significance 636365 12:56742818-56742818 12:56349034-56349034
11 STAT2 NM_005419.4(STAT2):c.250C>A (p.Gln84Lys)SNV Uncertain significance 636366 12:56749951-56749951 12:56356167-56356167
12 STAT2 NM_005419.4(STAT2):c.2525C>A (p.Thr842Asn)SNV Uncertain significance 640593 12:56737204-56737204 12:56343420-56343420
13 STAT2 NM_005419.4(STAT2):c.2507G>A (p.Arg836His)SNV Uncertain significance 654234 12:56737222-56737222 12:56343438-56343438
14 STAT2 NM_005419.4(STAT2):c.2506C>T (p.Arg836Cys)SNV Uncertain significance 644497 12:56737223-56737223 12:56343439-56343439
15 STAT2 NM_005419.4(STAT2):c.2491G>A (p.Glu831Lys)SNV Uncertain significance 654859 12:56737238-56737238 12:56343454-56343454
16 STAT2 NM_005419.4(STAT2):c.2191C>T (p.Pro731Ser)SNV Uncertain significance 650367 12:56737831-56737831 12:56344047-56344047
17 STAT2 NM_005419.4(STAT2):c.2030A>G (p.Tyr677Cys)SNV Uncertain significance 657004 12:56740240-56740240 12:56346456-56346456
18 STAT2 NM_005419.4(STAT2):c.1827_1829del (p.Ile610del)deletion Uncertain significance 659151 12:56740635-56740637 12:56346851-56346853
19 STAT2 NM_005419.4(STAT2):c.1693C>T (p.His565Tyr)SNV Uncertain significance 651189 12:56742344-56742344 12:56348560-56348560
20 STAT2 NM_005419.4(STAT2):c.1344G>A (p.Thr448=)SNV Uncertain significance 652347 12:56743043-56743043 12:56349259-56349259
21 STAT2 NM_005419.4(STAT2):c.1320G>A (p.Gln440=)SNV Uncertain significance 653543 12:56743231-56743231 12:56349447-56349447
22 STAT2 NM_005419.4(STAT2):c.1088T>C (p.Ile363Thr)SNV Uncertain significance 652735 12:56744619-56744619 12:56350835-56350835
23 STAT2 NM_005419.4(STAT2):c.694C>A (p.Leu232Met)SNV Uncertain significance 661419 12:56748338-56748338 12:56354554-56354554
24 STAT2 NM_005419.4(STAT2):c.538C>G (p.Gln180Glu)SNV Uncertain significance 651710 12:56749069-56749069 12:56355285-56355285
25 STAT2 NC_000012.11:g.(?_56737153)_(56737939_?)dupduplication Uncertain significance 658970 12:56737153-56737939 12:56343369-56344155
26 STAT2 NM_005419.4(STAT2):c.116T>C (p.Ile39Thr)SNV Uncertain significance 475687 rs757152982 12:56750240-56750240 12:56356456-56356456
27 STAT2 NM_005419.4(STAT2):c.400C>T (p.Leu134Phe)SNV Uncertain significance 475694 rs1264238680 12:56749298-56749298 12:56355514-56355514
28 STAT2 NC_000012.11:g.(?_56737153)_(56750375_?)dupduplication Uncertain significance 542355 12:56737153-56750375 12:56343369-56356591
29 STAT2 NM_005419.4(STAT2):c.1727G>T (p.Arg576Leu)SNV Uncertain significance 542348 rs200944055 12:56740737-56740737 12:56346953-56346953
30 STAT2 NM_005419.4(STAT2):c.1301C>T (p.Thr434Met)SNV Uncertain significance 542347 rs146115536 12:56743250-56743250 12:56349466-56349466
31 STAT2 NM_005419.4(STAT2):c.2004C>G (p.Ile668Met)SNV Uncertain significance 542346 rs199528062 12:56740266-56740266 12:56346482-56346482
32 STAT2 NC_000012.11:g.(?_56739910)_(56750375_?)dupduplication Uncertain significance 583729 12:56739910-56750375 12:56346126-56356591
33 STAT2 NM_005419.4(STAT2):c.1345G>A (p.Asp449Asn)SNV Uncertain significance 580406 rs766306027 12:56743042-56743042 12:56349258-56349258
34 STAT2 NM_005419.4(STAT2):c.331C>T (p.Leu111Phe)SNV Uncertain significance 576314 rs199890161 12:56749542-56749542 12:56355758-56355758
35 STAT2 NM_005419.4(STAT2):c.109G>T (p.Val37Phe)SNV Uncertain significance 569571 rs144812882 12:56750247-56750247 12:56356463-56356463
36 STAT2 NM_005419.4(STAT2):c.2044+10G>ASNV Likely benign 542351 rs752483816 12:56740216-56740216 12:56346432-56346432
37 STAT2 NM_005419.4(STAT2):c.1629+7C>TSNV Likely benign 542354 rs1555170176 12:56742529-56742529 12:56348745-56348745
38 STAT2 NM_005419.4(STAT2):c.1343C>T (p.Thr448Met)SNV Benign 475688 rs2066815 12:56743044-56743044 12:56349260-56349260
39 STAT2 NM_005419.4(STAT2):c.1782G>C (p.Met594Ile)SNV Benign 403493 rs2066807 12:56740682-56740682 12:56346898-56346898
40 STAT2 NM_005419.4(STAT2):c.1390A>G (p.Ile464Val)SNV Benign 475689 rs2066811 12:56742997-56742997 12:56349213-56349213
41 STAT2 NM_005419.4(STAT2):c.1326G>A (p.Leu442=)SNV Benign 542352 rs529406351 12:56743225-56743225 12:56349441-56349441

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 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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