MCID: TCL021
MIFTS: 19

T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations

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

Aliases & Classifications for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity...

MalaCards integrated aliases for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations:

Name: T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations 57 75 29 6 40 73
T-Cell Immunodeficiency, Recurrent Infections, Autoimmunity, and Cardiac Malformations 57 13
Stk4 Deficiency 57 75
Mst1 Deficiency 57 75
Tiiac 57 75
Combined Immunodeficiency Due to Stk4 Deficiency 59
Cid Due to Stk4 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
combined immunodeficiency due to stk4 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 614868
Orphanet 59 ORPHA314689
ICD10 via Orphanet 34 D81.8
MeSH 44 D007153
UMLS 73 C3553943

Summaries for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity...

UniProtKB/Swiss-Prot : 75 T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations: A primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T-cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect.

MalaCards based summary : T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations, is also known as t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations. An important gene associated with T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations is STK4 (Serine/Threonine Kinase 4). Affiliated tissues include t cells, and related phenotypes are atrial septal defect and neutropenia

OMIM : 57 STK4 deficiency results in a primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect (Abdollahpour et al., 2012; Nehme et al., 2012). (614868)

Related Diseases for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity...

Symptoms & Phenotypes for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity...

Clinical features from OMIM:

614868

Human phenotypes related to T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 32 HP:0001631
2 neutropenia 32 HP:0001875
3 lymphopenia 32 HP:0001888
4 recurrent bacterial infections 32 HP:0002718
5 immunodeficiency 32 HP:0002721
6 recurrent fungal infections 32 HP:0002841
7 recurrent viral infections 32 HP:0004429
8 verrucae 32 HP:0200043

Drugs & Therapeutics for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity...

Search Clinical Trials , NIH Clinical Center for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations

Genetic Tests for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity...

Genetic tests related to T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations:

# Genetic test Affiliating Genes
1 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations 29 STK4

Anatomical Context for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity...

MalaCards organs/tissues related to T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations:

41
T Cells

Publications for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity...

Articles related to T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations:

# Title Authors Year
1
The phenotype of human STK4 deficiency. ( 22294732 )
2012

Variations for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity...

ClinVar genetic disease variations for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations:

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 STK4 NM_006282.3(STK4): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs387907316 GRCh37 Chromosome 20, 43610573: 43610573
2 STK4 NM_006282.3(STK4): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs387907316 GRCh38 Chromosome 20, 44981932: 44981932
3 STK4 STK4, 1-BP DEL, 1103T deletion Pathogenic
4 STK4 STK4, TRP250TER single nucleotide variant Pathogenic
5 STK4 NM_006282.4(STK4): c.1031C> T (p.Ala344Val) single nucleotide variant Uncertain significance rs776978911 GRCh37 Chromosome 20, 43629878: 43629878
6 STK4 NM_006282.4(STK4): c.1031C> T (p.Ala344Val) single nucleotide variant Uncertain significance rs776978911 GRCh38 Chromosome 20, 45001237: 45001237
7 STK4 NM_006282.4(STK4): c.526-7A> G single nucleotide variant Likely benign rs528301360 GRCh37 Chromosome 20, 43623724: 43623724
8 STK4 NM_006282.4(STK4): c.526-7A> G single nucleotide variant Likely benign rs528301360 GRCh38 Chromosome 20, 44995083: 44995083
9 STK4 NM_006282.4(STK4): c.929G> A (p.Arg310Gln) single nucleotide variant Uncertain significance rs35447878 GRCh37 Chromosome 20, 43629130: 43629130
10 STK4 NM_006282.4(STK4): c.929G> A (p.Arg310Gln) single nucleotide variant Uncertain significance rs35447878 GRCh38 Chromosome 20, 45000489: 45000489
11 STK4 NM_006282.4(STK4): c.1344C> T (p.Leu448=) single nucleotide variant Benign rs142232604 GRCh37 Chromosome 20, 43703697: 43703697
12 STK4 NM_006282.4(STK4): c.1344C> T (p.Leu448=) single nucleotide variant Benign rs142232604 GRCh38 Chromosome 20, 45075056: 45075056
13 STK4 NM_006282.4(STK4): c.387A> G (p.Ile129Met) single nucleotide variant Uncertain significance rs371332575 GRCh38 Chromosome 20, 44987158: 44987158
14 STK4 NM_006282.4(STK4): c.387A> G (p.Ile129Met) single nucleotide variant Uncertain significance rs371332575 GRCh37 Chromosome 20, 43615799: 43615799
15 STK4 NM_006282.4(STK4): c.721C> T (p.Pro241Ser) single nucleotide variant Uncertain significance rs371236375 GRCh38 Chromosome 20, 44997196: 44997196
16 STK4 NM_006282.4(STK4): c.721C> T (p.Pro241Ser) single nucleotide variant Uncertain significance rs371236375 GRCh37 Chromosome 20, 43625837: 43625837
17 STK4 NM_006282.4(STK4): c.828G> A (p.Leu276=) single nucleotide variant Likely benign GRCh38 Chromosome 20, 44997303: 44997303
18 STK4 NM_006282.4(STK4): c.828G> A (p.Leu276=) single nucleotide variant Likely benign GRCh37 Chromosome 20, 43625944: 43625944
19 STK4 NM_006282.4(STK4): c.246-10C> T single nucleotide variant Likely benign rs755737288 GRCh38 Chromosome 20, 44981819: 44981819
20 STK4 NM_006282.4(STK4): c.246-10C> T single nucleotide variant Likely benign rs755737288 GRCh37 Chromosome 20, 43610460: 43610460
21 STK4 NM_006282.4(STK4): c.1064T> C (p.Ile355Thr) single nucleotide variant Benign rs35944046 GRCh37 Chromosome 20, 43629911: 43629911
22 STK4 NM_006282.4(STK4): c.1064T> C (p.Ile355Thr) single nucleotide variant Benign rs35944046 GRCh38 Chromosome 20, 45001270: 45001270
23 STK4 NM_006282.4(STK4): c.1247C> T (p.Pro416Leu) single nucleotide variant Benign rs33963346 GRCh38 Chromosome 20, 45025072: 45025072
24 STK4 NM_006282.4(STK4): c.1247C> T (p.Pro416Leu) single nucleotide variant Benign rs33963346 GRCh37 Chromosome 20, 43653713: 43653713

Expression for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity...

Search GEO for disease gene expression data for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations.

Pathways for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity...

GO Terms for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity...

Sources for T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity...

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