MCID: IMM095
MIFTS: 24

Immunodeficiency 35

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

Aliases & Classifications for Immunodeficiency 35

MalaCards integrated aliases for Immunodeficiency 35:

Name: Immunodeficiency 35 57 75
Tyrosine Kinase 2 Deficiency 57 75 29 13 6 73
Tyk2 Deficiency 57 75
Imd35 57 75
Hyper-Ige Syndrome with Atypical Mycobacteriosis, Autosomal Recessive 57
Autosomal Recessive Hyper-Ige Syndrome with Atypical Mycobacteriosis 75
Autosomal Recessive Hyper-Ige Syndrome Due to Tyk2 Deficiency 59
Hies with Atypical Mycobacteriosis, Autosomal Recessive 57
Autosomal Recessive Hies with Atypical Mycobacteriosis 75
Susceptibility to Infection Due to Tyk2 Deficiency 59
Tyrosine Kinase-2 13

Characteristics:

Orphanet epidemiological data:

59
susceptibility to infection due to tyk2 deficiency
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
variable infectious phenotype


HPO:

32
immunodeficiency 35:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 611521
Orphanet 59 ORPHA331226
ICD10 via Orphanet 34 D82.4
UMLS via Orphanet 74 C1969086
MedGen 42 C1969086
MeSH 44 D007153
SNOMED-CT via HPO 69 258211005 234532001
UMLS 73 C1969086

Summaries for Immunodeficiency 35

OMIM : 57 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, 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 : 75 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, autosomal recessive 11.1
2 colitis 9.9
3 squamous cell carcinoma, head and neck 9.8
4 crohn's disease 9.8
5 ulcerative colitis 9.8
6 ischemic colitis 9.8
7 squamous cell carcinoma 9.8
8 endotheliitis 9.8
9 hyper ige syndrome 9.8

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



Diseases related to Immunodeficiency 35

Symptoms & Phenotypes for Immunodeficiency 35

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
recurrent respiratory infections

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
Skin Nails Hair Skin:
recurrent skin abscesses (rare)


Clinical features from OMIM:

611521

Human phenotypes related to Immunodeficiency 35:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 immunodeficiency 32 HP:0002721
3 recurrent fungal infections 32 HP:0002841
4 increased ige level 32 HP:0003212
5 recurrent viral infections 32 HP:0004429
6 recurrent mycobacterial infections 32 HP:0011274

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 29 TYK2

Anatomical Context for Immunodeficiency 35

MalaCards organs/tissues related to Immunodeficiency 35:

41
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 91)
# Gene Variation Type Significance SNP ID Assembly Location
1 TYK2 NM_003331.4(TYK2): c.2303_2311delCCAGGGAGG (p.Ser768_Pro1105delinsTer) deletion Pathogenic rs869320745 GRCh37 Chromosome 19, 10468679: 10468687
2 TYK2 NM_003331.4(TYK2): c.2303_2311delCCAGGGAGG (p.Ser768_Pro1105delinsTer) deletion Pathogenic rs869320745 GRCh38 Chromosome 19, 10358003: 10358011
3 TYK2 NM_003331.4(TYK2): c.3318_3319insC insertion Pathogenic
4 TYK2 NM_003331.4(TYK2): c.460G> T (p.Glu154Ter) single nucleotide variant Pathogenic rs879253731 GRCh38 Chromosome 19, 10368060: 10368060
5 TYK2 NM_003331.4(TYK2): c.460G> T (p.Glu154Ter) single nucleotide variant Pathogenic rs879253731 GRCh37 Chromosome 19, 10478736: 10478736
6 TYK2 NM_003331.4(TYK2): c.149delC (p.Ser50Cysfs) deletion Pathogenic rs879253732 GRCh38 Chromosome 19, 10378258: 10378258
7 TYK2 NM_003331.4(TYK2): c.149delC (p.Ser50Cysfs) deletion Pathogenic rs879253732 GRCh37 Chromosome 19, 10488934: 10488934
8 TYK2 NM_003331.4(TYK2): c.1912C> T (p.Arg638Ter) single nucleotide variant Pathogenic rs201025290 GRCh38 Chromosome 19, 10361817: 10361817
9 TYK2 NM_003331.4(TYK2): c.1912C> T (p.Arg638Ter) single nucleotide variant Pathogenic rs201025290 GRCh37 Chromosome 19, 10472493: 10472493
10 TYK2 NM_003331.4(TYK2): c.209_212delGCTT (p.Cys70Serfs) deletion Pathogenic rs770927552 GRCh37 Chromosome 19, 10479076: 10479079
11 TYK2 NM_003331.4(TYK2): c.209_212delGCTT (p.Cys70Serfs) deletion Pathogenic rs770927552 GRCh38 Chromosome 19, 10368400: 10368403
12 TYK2 NM_003331.4(TYK2): c.1953C> T (p.Ile651=) single nucleotide variant Benign rs12720355 GRCh37 Chromosome 19, 10472452: 10472452
13 TYK2 NM_003331.4(TYK2): c.1953C> T (p.Ile651=) single nucleotide variant Benign rs12720355 GRCh38 Chromosome 19, 10361776: 10361776
14 TYK2 NM_003331.4(TYK2): c.2783C> T (p.Ala928Val) single nucleotide variant Benign/Likely benign rs35018800 GRCh37 Chromosome 19, 10464843: 10464843
15 TYK2 NM_003331.4(TYK2): c.2783C> T (p.Ala928Val) single nucleotide variant Benign/Likely benign rs35018800 GRCh38 Chromosome 19, 10354167: 10354167
16 TYK2 NM_003331.4(TYK2): c.2716-10T> G single nucleotide variant Benign/Likely benign rs12720319 GRCh38 Chromosome 19, 10354244: 10354244
17 TYK2 NM_003331.4(TYK2): c.2716-10T> G single nucleotide variant Benign/Likely benign rs12720319 GRCh37 Chromosome 19, 10464920: 10464920
18 TYK2 NM_003331.4(TYK2): c.590G> A (p.Arg197His) single nucleotide variant Benign/Likely benign rs12720263 GRCh38 Chromosome 19, 10366456: 10366456
19 TYK2 NM_003331.4(TYK2): c.590G> A (p.Arg197His) single nucleotide variant Benign/Likely benign rs12720263 GRCh37 Chromosome 19, 10477132: 10477132
20 TYK2 NM_003331.4(TYK2): c.513G> A (p.Ser171=) single nucleotide variant Conflicting interpretations of pathogenicity rs55988893 GRCh38 Chromosome 19, 10366533: 10366533
21 TYK2 NM_003331.4(TYK2): c.513G> A (p.Ser171=) single nucleotide variant Conflicting interpretations of pathogenicity rs55988893 GRCh37 Chromosome 19, 10477209: 10477209
22 TYK2 NM_003331.4(TYK2): c.114C> A (p.Gly38=) single nucleotide variant Benign/Likely benign rs56295652 GRCh38 Chromosome 19, 10378293: 10378293
23 TYK2 NM_003331.4(TYK2): c.114C> A (p.Gly38=) single nucleotide variant Benign/Likely benign rs56295652 GRCh37 Chromosome 19, 10488969: 10488969
24 TYK2 NM_003331.4(TYK2): c.2441C> T (p.Pro814Leu) single nucleotide variant Uncertain significance rs143743593 GRCh37 Chromosome 19, 10468465: 10468465
25 TYK2 NM_003331.4(TYK2): c.2441C> T (p.Pro814Leu) single nucleotide variant Uncertain significance rs143743593 GRCh38 Chromosome 19, 10357789: 10357789
26 TYK2 NM_003331.4(TYK2): c.2107C> T (p.Arg703Trp) single nucleotide variant Benign/Likely benign rs55882956 GRCh37 Chromosome 19, 10469919: 10469919
27 TYK2 NM_003331.4(TYK2): c.2107C> T (p.Arg703Trp) single nucleotide variant Benign/Likely benign rs55882956 GRCh38 Chromosome 19, 10359243: 10359243
28 TYK2 NM_003331.4(TYK2): c.1807G> A (p.Val603Met) single nucleotide variant Uncertain significance rs140594440 GRCh37 Chromosome 19, 10472598: 10472598
29 TYK2 NM_003331.4(TYK2): c.1807G> A (p.Val603Met) single nucleotide variant Uncertain significance rs140594440 GRCh38 Chromosome 19, 10361922: 10361922
30 TYK2 NM_003331.4(TYK2): c.1559G> A (p.Gly520Asp) single nucleotide variant Uncertain significance rs142576987 GRCh38 Chromosome 19, 10362374: 10362374
31 TYK2 NM_003331.4(TYK2): c.1559G> A (p.Gly520Asp) single nucleotide variant Uncertain significance rs142576987 GRCh37 Chromosome 19, 10473050: 10473050
32 TYK2 NM_003331.4(TYK2): c.2017G> T (p.Val673Leu) single nucleotide variant Uncertain significance rs528691386 GRCh37 Chromosome 19, 10472217: 10472217
33 TYK2 NM_003331.4(TYK2): c.2017G> T (p.Val673Leu) single nucleotide variant Uncertain significance rs528691386 GRCh38 Chromosome 19, 10361541: 10361541
34 TYK2 NM_003331.4(TYK2): c.1848T> G (p.Pro616=) single nucleotide variant Benign/Likely benign rs12720276 GRCh37 Chromosome 19, 10472557: 10472557
35 TYK2 NM_003331.4(TYK2): c.1848T> G (p.Pro616=) single nucleotide variant Benign/Likely benign rs12720276 GRCh38 Chromosome 19, 10361881: 10361881
36 TYK2 NM_003331.4(TYK2): c.1141C> T (p.Arg381Trp) single nucleotide variant Uncertain significance rs201240289 GRCh38 Chromosome 19, 10364919: 10364919
37 TYK2 NM_003331.4(TYK2): c.1141C> T (p.Arg381Trp) single nucleotide variant Uncertain significance rs201240289 GRCh37 Chromosome 19, 10475595: 10475595
38 TYK2 NM_003331.4(TYK2): c.942C> T (p.His314=) single nucleotide variant Benign/Likely benign rs12720266 GRCh37 Chromosome 19, 10476262: 10476262
39 TYK2 NM_003331.4(TYK2): c.942C> T (p.His314=) single nucleotide variant Benign/Likely benign rs12720266 GRCh38 Chromosome 19, 10365586: 10365586
40 TYK2 NM_003331.4(TYK2): c.44T> C (p.Val15Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144960992 GRCh38 Chromosome 19, 10378363: 10378363
41 TYK2 NM_003331.4(TYK2): c.44T> C (p.Val15Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144960992 GRCh37 Chromosome 19, 10489039: 10489039
42 TYK2 NM_003331.4(TYK2): c.3330G> A (p.Glu1110=) single nucleotide variant Benign/Likely benign rs114073289 GRCh37 Chromosome 19, 10461827: 10461827
43 TYK2 NM_003331.4(TYK2): c.3330G> A (p.Glu1110=) single nucleotide variant Benign/Likely benign rs114073289 GRCh38 Chromosome 19, 10351151: 10351151
44 TYK2 NM_003331.4(TYK2): c.157G> A (p.Ala53Thr) single nucleotide variant Benign rs55762744 GRCh37 Chromosome 19, 10488926: 10488926
45 TYK2 NM_003331.4(TYK2): c.157G> A (p.Ala53Thr) single nucleotide variant Benign rs55762744 GRCh38 Chromosome 19, 10378250: 10378250
46 TYK2 NM_003331.4(TYK2): c.2670G> C (p.Thr890=) single nucleotide variant Likely benign rs144332908 GRCh37 Chromosome 19, 10465233: 10465233
47 TYK2 NM_003331.4(TYK2): c.2670G> C (p.Thr890=) single nucleotide variant Likely benign rs144332908 GRCh38 Chromosome 19, 10354557: 10354557
48 TYK2 NM_003331.4(TYK2): c.2250C> T (p.Gly750=) single nucleotide variant Benign/Likely benign rs138652649 GRCh37 Chromosome 19, 10468740: 10468740
49 TYK2 NM_003331.4(TYK2): c.2250C> T (p.Gly750=) single nucleotide variant Benign/Likely benign rs138652649 GRCh38 Chromosome 19, 10358064: 10358064
50 TYK2 NM_003331.4(TYK2): c.3488A> G (p.Glu1163Gly) single nucleotide variant Benign rs55886939 GRCh38 Chromosome 19, 10350910: 10350910

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 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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