IMD35
MCID: IMM095
MIFTS: 24

Immunodeficiency 35 (IMD35)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 35

MalaCards integrated aliases for Immunodeficiency 35:

Name: Immunodeficiency 35 58 76
Tyrosine Kinase 2 Deficiency 58 76 30 13 6 74
Tyk2 Deficiency 58 76
Imd35 58 76
Hyper-Ige Syndrome with Atypical Mycobacteriosis, Autosomal Recessive 58
Autosomal Recessive Hyper-Ige Syndrome with Atypical Mycobacteriosis 76
Autosomal Recessive Hyper-Ige Syndrome Due to Tyk2 Deficiency 60
Hies with Atypical Mycobacteriosis, Autosomal Recessive 58
Autosomal Recessive Hies with Atypical Mycobacteriosis 76
Susceptibility to Infection Due to Tyk2 Deficiency 60
Tyrosine Kinase-2 13

Characteristics:

Orphanet epidemiological data:

60
susceptibility to infection due to tyk2 deficiency
Inheritance: Autosomal recessive;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
variable infectious phenotype


HPO:

33
immunodeficiency 35:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 611521
MeSH 45 D007153
ICD10 via Orphanet 35 D82.4
UMLS via Orphanet 75 C1969086
Orphanet 60 ORPHA331226
MedGen 43 C1969086
SNOMED-CT via HPO 70 234532001 258211005
UMLS 74 C1969086

Summaries for Immunodeficiency 35

OMIM : 58 Immunodeficiency-35 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to localized or disseminated mycobacterial infection after BCG vaccination. Some patients may have increased susceptibility to infection with other intracellular organisms and/or viral infections. Fungal infections are not observed. Laboratory studies show normal levels of immune cells but defective signaling in specific immunologic pathways (summary by Kreins et al., 2015). (611521)

MalaCards based summary : Immunodeficiency 35, also known as tyrosine kinase 2 deficiency, is related to hyper-ige recurrent infection syndrome 2, autosomal recessive and colitis. An important gene associated with Immunodeficiency 35 is TYK2 (Tyrosine Kinase 2). Affiliated tissues include skin, and related phenotypes are recurrent respiratory infections and immunodeficiency

UniProtKB/Swiss-Prot : 76 Immunodeficiency 35: A primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated serum IgE.

Related Diseases for Immunodeficiency 35

Diseases related to Immunodeficiency 35 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.2
2 colitis 10.1
3 squamous cell carcinoma, head and neck 9.9
4 crohn's disease 9.9
5 ulcerative colitis 9.9
6 ischemic colitis 9.9
7 squamous cell carcinoma 9.9
8 hyper ige syndrome 9.9

Graphical network of the top 20 diseases related to Immunodeficiency 35:



Diseases related to Immunodeficiency 35

Symptoms & Phenotypes for Immunodeficiency 35

Human phenotypes related to Immunodeficiency 35:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 33 HP:0002205
2 immunodeficiency 33 HP:0002721
3 recurrent viral infections 33 HP:0004429
4 recurrent fungal infections 33 HP:0002841
5 recurrent mycobacterial infections 33 HP:0011274
6 increased ige level 33 HP:0003212

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
recurrent respiratory infections

Skin Nails Hair Skin:
recurrent skin abscesses (rare)

Immunology:
immunodeficiency
normal numbers of immune cells
increased susceptibility to mycobacteria and intracellular bacteria
increased susceptibility to virus (in some patients)
impaired cellular responses to certain cytokine pathways
more

Clinical features from OMIM:

611521

Drugs & Therapeutics for Immunodeficiency 35

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 35

Genetic Tests for Immunodeficiency 35

Genetic tests related to Immunodeficiency 35:

# Genetic test Affiliating Genes
1 Tyrosine Kinase 2 Deficiency 30 TYK2

Anatomical Context for Immunodeficiency 35

MalaCards organs/tissues related to Immunodeficiency 35:

42
Skin

Publications for Immunodeficiency 35

Articles related to Immunodeficiency 35:

# Title Authors Year
1
A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. ( 22402565 )
2012
2
Hyperimmunoglobulin E syndrome and tyrosine kinase 2 deficiency. ( 17989526 )
2007
3
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. ( 17088085 )
2006

Variations for Immunodeficiency 35

ClinVar genetic disease variations for Immunodeficiency 35:

6 (show top 50) (show all 135)
# Gene Variation Type Significance SNP ID Assembly Location
1 TYK2 NM_003331.4(TYK2): c.1774-4G> C single nucleotide variant Benign/Likely benign rs280518 GRCh38 Chromosome 19, 10361959: 10361959
2 TYK2 NM_003331.4(TYK2): c.1774-4G> C single nucleotide variant Benign/Likely benign rs280518 GRCh37 Chromosome 19, 10472635: 10472635
3 TYK2 NM_003331.4(TYK2): c.3310C> G (p.Pro1104Ala) single nucleotide variant Benign/Likely benign rs34536443 GRCh38 Chromosome 19, 10352442: 10352442
4 TYK2 NM_003331.4(TYK2): c.3310C> G (p.Pro1104Ala) single nucleotide variant Benign/Likely benign rs34536443 GRCh37 Chromosome 19, 10463118: 10463118
5 TYK2 NM_003331.4(TYK2): c.2303_2311delCCAGGGAGG (p.Ser768_Pro1105delinsTer) deletion Pathogenic rs869320745 GRCh37 Chromosome 19, 10468679: 10468687
6 TYK2 NM_003331.4(TYK2): c.2303_2311delCCAGGGAGG (p.Ser768_Pro1105delinsTer) deletion Pathogenic rs869320745 GRCh38 Chromosome 19, 10358003: 10358011
7 TYK2 NM_003331.4(TYK2): c.3318_3319insC insertion Pathogenic
8 TYK2 NM_003331.4(TYK2): c.460G> T (p.Glu154Ter) single nucleotide variant Pathogenic rs879253731 GRCh38 Chromosome 19, 10368060: 10368060
9 TYK2 NM_003331.4(TYK2): c.460G> T (p.Glu154Ter) single nucleotide variant Pathogenic rs879253731 GRCh37 Chromosome 19, 10478736: 10478736
10 TYK2 NM_003331.4(TYK2): c.149delC (p.Ser50Cysfs) deletion Pathogenic rs879253732 GRCh38 Chromosome 19, 10378258: 10378258
11 TYK2 NM_003331.4(TYK2): c.149delC (p.Ser50Cysfs) deletion Pathogenic rs879253732 GRCh37 Chromosome 19, 10488934: 10488934
12 TYK2 NM_003331.4(TYK2): c.1912C> T (p.Arg638Ter) single nucleotide variant Pathogenic rs201025290 GRCh38 Chromosome 19, 10361817: 10361817
13 TYK2 NM_003331.4(TYK2): c.1912C> T (p.Arg638Ter) single nucleotide variant Pathogenic rs201025290 GRCh37 Chromosome 19, 10472493: 10472493
14 TYK2 NM_003331.4(TYK2): c.209_212delGCTT (p.Cys70Serfs) deletion Pathogenic rs770927552 GRCh37 Chromosome 19, 10479076: 10479079
15 TYK2 NM_003331.4(TYK2): c.209_212delGCTT (p.Cys70Serfs) deletion Pathogenic rs770927552 GRCh38 Chromosome 19, 10368400: 10368403
16 TYK2 NM_003331.4(TYK2): c.1953C> T (p.Ile651=) single nucleotide variant Benign rs12720355 GRCh37 Chromosome 19, 10472452: 10472452
17 TYK2 NM_003331.4(TYK2): c.1953C> T (p.Ile651=) single nucleotide variant Benign rs12720355 GRCh38 Chromosome 19, 10361776: 10361776
18 TYK2 NM_003331.4(TYK2): c.2783C> T (p.Ala928Val) single nucleotide variant Benign/Likely benign rs35018800 GRCh37 Chromosome 19, 10464843: 10464843
19 TYK2 NM_003331.4(TYK2): c.2783C> T (p.Ala928Val) single nucleotide variant Benign/Likely benign rs35018800 GRCh38 Chromosome 19, 10354167: 10354167
20 TYK2 NM_003331.4(TYK2): c.2716-10T> G single nucleotide variant Benign/Likely benign rs12720319 GRCh38 Chromosome 19, 10354244: 10354244
21 TYK2 NM_003331.4(TYK2): c.2716-10T> G single nucleotide variant Benign/Likely benign rs12720319 GRCh37 Chromosome 19, 10464920: 10464920
22 TYK2 NM_003331.4(TYK2): c.590G> A (p.Arg197His) single nucleotide variant Benign/Likely benign rs12720263 GRCh38 Chromosome 19, 10366456: 10366456
23 TYK2 NM_003331.4(TYK2): c.590G> A (p.Arg197His) single nucleotide variant Benign/Likely benign rs12720263 GRCh37 Chromosome 19, 10477132: 10477132
24 TYK2 NM_003331.4(TYK2): c.513G> A (p.Ser171=) single nucleotide variant Conflicting interpretations of pathogenicity rs55988893 GRCh38 Chromosome 19, 10366533: 10366533
25 TYK2 NM_003331.4(TYK2): c.513G> A (p.Ser171=) single nucleotide variant Conflicting interpretations of pathogenicity rs55988893 GRCh37 Chromosome 19, 10477209: 10477209
26 TYK2 NM_003331.4(TYK2): c.114C> A (p.Gly38=) single nucleotide variant Benign/Likely benign rs56295652 GRCh38 Chromosome 19, 10378293: 10378293
27 TYK2 NM_003331.4(TYK2): c.114C> A (p.Gly38=) single nucleotide variant Benign/Likely benign rs56295652 GRCh37 Chromosome 19, 10488969: 10488969
28 TYK2 NM_003331.4(TYK2): c.2441C> T (p.Pro814Leu) single nucleotide variant Uncertain significance rs143743593 GRCh37 Chromosome 19, 10468465: 10468465
29 TYK2 NM_003331.4(TYK2): c.2441C> T (p.Pro814Leu) single nucleotide variant Uncertain significance rs143743593 GRCh38 Chromosome 19, 10357789: 10357789
30 TYK2 NM_003331.4(TYK2): c.2107C> T (p.Arg703Trp) single nucleotide variant Benign/Likely benign rs55882956 GRCh37 Chromosome 19, 10469919: 10469919
31 TYK2 NM_003331.4(TYK2): c.2107C> T (p.Arg703Trp) single nucleotide variant Benign/Likely benign rs55882956 GRCh38 Chromosome 19, 10359243: 10359243
32 TYK2 NM_003331.4(TYK2): c.1807G> A (p.Val603Met) single nucleotide variant Uncertain significance rs140594440 GRCh37 Chromosome 19, 10472598: 10472598
33 TYK2 NM_003331.4(TYK2): c.1807G> A (p.Val603Met) single nucleotide variant Uncertain significance rs140594440 GRCh38 Chromosome 19, 10361922: 10361922
34 TYK2 NM_003331.4(TYK2): c.1559G> A (p.Gly520Asp) single nucleotide variant Uncertain significance rs142576987 GRCh38 Chromosome 19, 10362374: 10362374
35 TYK2 NM_003331.4(TYK2): c.1559G> A (p.Gly520Asp) single nucleotide variant Uncertain significance rs142576987 GRCh37 Chromosome 19, 10473050: 10473050
36 TYK2 NM_003331.4(TYK2): c.2017G> T (p.Val673Leu) single nucleotide variant Uncertain significance rs528691386 GRCh37 Chromosome 19, 10472217: 10472217
37 TYK2 NM_003331.4(TYK2): c.2017G> T (p.Val673Leu) single nucleotide variant Uncertain significance rs528691386 GRCh38 Chromosome 19, 10361541: 10361541
38 TYK2 NM_003331.4(TYK2): c.1848T> G (p.Pro616=) single nucleotide variant Benign/Likely benign rs12720276 GRCh37 Chromosome 19, 10472557: 10472557
39 TYK2 NM_003331.4(TYK2): c.1848T> G (p.Pro616=) single nucleotide variant Benign/Likely benign rs12720276 GRCh38 Chromosome 19, 10361881: 10361881
40 TYK2 NM_003331.4(TYK2): c.1141C> T (p.Arg381Trp) single nucleotide variant Uncertain significance rs201240289 GRCh38 Chromosome 19, 10364919: 10364919
41 TYK2 NM_003331.4(TYK2): c.1141C> T (p.Arg381Trp) single nucleotide variant Uncertain significance rs201240289 GRCh37 Chromosome 19, 10475595: 10475595
42 TYK2 NM_003331.4(TYK2): c.942C> T (p.His314=) single nucleotide variant Benign/Likely benign rs12720266 GRCh38 Chromosome 19, 10365586: 10365586
43 TYK2 NM_003331.4(TYK2): c.942C> T (p.His314=) single nucleotide variant Benign/Likely benign rs12720266 GRCh37 Chromosome 19, 10476262: 10476262
44 TYK2 NM_003331.4(TYK2): c.44T> C (p.Val15Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144960992 GRCh38 Chromosome 19, 10378363: 10378363
45 TYK2 NM_003331.4(TYK2): c.44T> C (p.Val15Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144960992 GRCh37 Chromosome 19, 10489039: 10489039
46 TYK2 NM_003331.4(TYK2): c.3330G> A (p.Glu1110=) single nucleotide variant Benign/Likely benign rs114073289 GRCh38 Chromosome 19, 10351151: 10351151
47 TYK2 NM_003331.4(TYK2): c.3330G> A (p.Glu1110=) single nucleotide variant Benign/Likely benign rs114073289 GRCh37 Chromosome 19, 10461827: 10461827
48 TYK2 NM_003331.4(TYK2): c.157G> A (p.Ala53Thr) single nucleotide variant Benign rs55762744 GRCh38 Chromosome 19, 10378250: 10378250
49 TYK2 NM_003331.4(TYK2): c.157G> A (p.Ala53Thr) single nucleotide variant Benign rs55762744 GRCh37 Chromosome 19, 10488926: 10488926
50 TYK2 NM_003331.4(TYK2): c.2670G> C (p.Thr890=) single nucleotide variant Likely benign rs144332908 GRCh38 Chromosome 19, 10354557: 10354557

Expression for Immunodeficiency 35

Search GEO for disease gene expression data for Immunodeficiency 35.

Pathways for Immunodeficiency 35

GO Terms for Immunodeficiency 35

Sources for Immunodeficiency 35

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
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45 MeSH
46 MESH via Orphanet
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50 NCI
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55 NINDS
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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