TIIAC
MCID: TCL021
MIFTS: 29

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

Categories: Blood diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare 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 72 29 6 39 70
T-Cell Immunodeficiency, Recurrent Infections, Autoimmunity, and Cardiac Malformations 57 13
Stk4 Deficiency 57 72
Mst1 Deficiency 57 72
Tiiac 57 72
Combined Immunodeficiency Due to Stk4 Deficiency 58
Cid Due to Stk4 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
combined immunodeficiency due to stk4 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

31
t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 614868
MeSH 44 D007153
ICD10 via Orphanet 33 D81.8
Orphanet 58 ORPHA314689
UMLS 70 C3553943

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

UniProtKB/Swiss-Prot : 72 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, also known as t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, is related to lymphopenia and combined immunodeficiency. 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 immunodeficiency and atrial septal defect

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) (Updated 20-May-2021)

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

Diseases related to T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 lymphopenia 10.2
2 combined immunodeficiency 10.1
3 lymphoma, hodgkin, classic 9.9
4 immune deficiency disease 9.9
5 autoimmune lymphoproliferative syndrome 9.9
6 lymphoma 9.9
7 lymphoproliferative syndrome 9.9
8 cutaneous candidiasis 9.9
9 bacterial infectious disease 9.9
10 neutropenia 9.9
11 hypothyroidism 9.9
12 candidiasis 9.9
13 glomerulonephritis 9.9
14 immune-complex glomerulonephritis 9.9
15 b-cell lymphoma 9.9
16 herpes zoster 9.9
17 epidermodysplasia verruciformis 1 9.9
18 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
19 t cell deficiency 9.9
20 seborrheic dermatitis 9.9
21 molluscum contagiosum 9.9

Graphical network of the top 20 diseases related to T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations:



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

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

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

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 atrial septal defect 31 HP:0001631
3 lymphopenia 31 HP:0001888
4 neutropenia 31 HP:0001875
5 verrucae 31 HP:0200043
6 recurrent bacterial infections 31 HP:0002718
7 recurrent fungal infections 31 HP:0002841
8 recurrent viral infections 31 HP:0004429

Clinical features from OMIM®:

614868 (Updated 20-May-2021)

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:

40
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 PMID Year
1
The phenotype of human STK4 deficiency. 61 6 57
22294732 2012
2
MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. 57 6
22174160 2012
3
STK4 Deficiency Impairs Innate Immunity and Interferon Production Through Negative Regulation of TBK1-IRF3 Signaling. 61
33078349 2021
4
A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection. 61
32394035 2020
5
A case report of sinusoidal diffuse large B-cell lymphoma in a STK4 deficient patient. 61
32118703 2020
6
STK4 Deficiency in a Patient with Immune Complex Glomerulonephritis, Salt-Losing Tubulopathy, and Castleman's-Like Disease. 61
31444685 2019
7
EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency. 61
30386345 2018
8
Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency. 61
26801501 2016

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 top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STK4 NM_006282.5(STK4):c.1103del (p.Met368fs) Deletion Pathogenic 37324 rs1601240010 GRCh37: 20:43629950-43629950
GRCh38: 20:45001309-45001309
2 STK4 NM_006282.5(STK4):c.749G>A (p.Trp250Ter) SNV Pathogenic 37325 rs1601230245 GRCh37: 20:43625865-43625865
GRCh38: 20:44997224-44997224
3 STK4 NM_006282.5(STK4):c.733C>T (p.Arg245Ter) SNV Pathogenic 835262 GRCh37: 20:43625849-43625849
GRCh38: 20:44997208-44997208
4 STK4 NM_006282.5(STK4):c.349C>T (p.Arg117Ter) SNV Pathogenic 37323 rs387907316 GRCh37: 20:43610573-43610573
GRCh38: 20:44981932-44981932
5 STK4 NM_006282.5(STK4):c.155C>T (p.Thr52Ile) SNV Uncertain significance 1001952 GRCh37: 20:43607122-43607122
GRCh38: 20:44978481-44978481
6 STK4 NM_006282.5(STK4):c.370G>T (p.Asp124Tyr) SNV Uncertain significance 1008149 GRCh37: 20:43615782-43615782
GRCh38: 20:44987141-44987141
7 STK4 NM_006282.5(STK4):c.359C>T (p.Thr120Met) SNV Uncertain significance 582438 rs368513990 GRCh37: 20:43610583-43610583
GRCh38: 20:44981942-44981942
8 STK4 NM_006282.5(STK4):c.1004G>A (p.Gly335Asp) SNV Uncertain significance 291204 rs771955007 GRCh37: 20:43629851-43629851
GRCh38: 20:45001210-45001210
9 STK4 NM_006282.5(STK4):c.1103T>G (p.Met368Arg) SNV Uncertain significance 949595 GRCh37: 20:43629950-43629950
GRCh38: 20:45001309-45001309
10 STK4 NM_006282.5(STK4):c.1352T>C (p.Leu451Pro) SNV Uncertain significance 952186 GRCh37: 20:43703705-43703705
GRCh38: 20:45075064-45075064
11 STK4 NM_006282.5(STK4):c.703A>G (p.Met235Val) SNV Uncertain significance 966867 GRCh37: 20:43625819-43625819
GRCh38: 20:44997178-44997178
12 STK4 NM_006282.5(STK4):c.370G>A (p.Asp124Asn) SNV Uncertain significance 1018275 GRCh37: 20:43615782-43615782
GRCh38: 20:44987141-44987141
13 STK4 NM_006282.5(STK4):c.1388G>A (p.Arg463Gln) SNV Uncertain significance 1022878 GRCh37: 20:43703741-43703741
GRCh38: 20:45075100-45075100
14 STK4 NM_006282.5(STK4):c.804G>C (p.Gln268His) SNV Uncertain significance 1025335 GRCh37: 20:43625920-43625920
GRCh38: 20:44997279-44997279
15 STK4 NM_006282.5(STK4):c.1172C>T (p.Ala391Val) SNV Uncertain significance 641778 rs371924549 GRCh37: 20:43653638-43653638
GRCh38: 20:45024997-45024997
16 STK4 NM_006282.5(STK4):c.47A>G (p.Lys16Arg) SNV Uncertain significance 652491 rs142594802 GRCh37: 20:43600730-43600730
GRCh38: 20:44972089-44972089
17 STK4 NM_006282.5(STK4):c.1430T>C (p.Ile477Thr) SNV Uncertain significance 863871 GRCh37: 20:43703783-43703783
GRCh38: 20:45075142-45075142
18 STK4 NM_006282.5(STK4):c.350G>A (p.Arg117Gln) SNV Uncertain significance 953160 GRCh37: 20:43610574-43610574
GRCh38: 20:44981933-44981933
19 STK4 NM_006282.5(STK4):c.818C>T (p.Thr273Ile) SNV Uncertain significance 967872 GRCh37: 20:43625934-43625934
GRCh38: 20:44997293-44997293
20 STK4 NM_006282.5(STK4):c.796C>A (p.Pro266Thr) SNV Uncertain significance 1035045 GRCh37: 20:43625912-43625912
GRCh38: 20:44997271-44997271
21 STK4 NM_006282.5(STK4):c.1409G>A (p.Arg470Gln) SNV Uncertain significance 1037245 GRCh37: 20:43703762-43703762
GRCh38: 20:45075121-45075121
22 STK4 NM_006282.5(STK4):c.960+5G>A SNV Uncertain significance 1046044 GRCh37: 20:43629166-43629166
GRCh38: 20:45000525-45000525
23 STK4 NM_006282.5(STK4):c.929G>A (p.Arg310Gln) SNV Uncertain significance 473300 rs35447878 GRCh37: 20:43629130-43629130
GRCh38: 20:45000489-45000489
24 STK4 NM_006282.5(STK4):c.772G>A (p.Val258Met) SNV Uncertain significance 862749 GRCh37: 20:43625888-43625888
GRCh38: 20:44997247-44997247
25 STK4 NM_006282.5(STK4):c.518A>T (p.Gln173Leu) SNV Uncertain significance 963389 GRCh37: 20:43615930-43615930
GRCh38: 20:44987289-44987289
26 STK4 NM_006282.5(STK4):c.739C>T (p.Pro247Ser) SNV Uncertain significance 1059736 GRCh37: 20:43625855-43625855
GRCh38: 20:44997214-44997214
27 STK4 NM_006282.5(STK4):c.823C>G (p.Leu275Val) SNV Uncertain significance 1060455 GRCh37: 20:43625939-43625939
GRCh38: 20:44997298-44997298
28 STK4 NM_006282.5(STK4):c.107T>C (p.Leu36Pro) SNV Uncertain significance 844161 GRCh37: 20:43600790-43600790
GRCh38: 20:44972149-44972149
29 STK4 NM_006282.5(STK4):c.694-4C>G SNV Uncertain significance 851732 GRCh37: 20:43625806-43625806
GRCh38: 20:44997165-44997165
30 STK4 NM_006282.5(STK4):c.812C>T (p.Thr271Ile) SNV Uncertain significance 649856 rs1423957175 GRCh37: 20:43625928-43625928
GRCh38: 20:44997287-44997287
31 STK4 NM_006282.5(STK4):c.1447C>T (p.Arg483Trp) SNV Uncertain significance 649857 rs201951179 GRCh37: 20:43703800-43703800
GRCh38: 20:45075159-45075159
32 STK4 NM_006282.5(STK4):c.1383G>C (p.Glu461Asp) SNV Uncertain significance 655159 rs771492682 GRCh37: 20:43703736-43703736
GRCh38: 20:45075095-45075095
33 STK4 NM_006282.5(STK4):c.291C>A (p.Asp97Glu) SNV Uncertain significance 655720 rs768328182 GRCh37: 20:43610515-43610515
GRCh38: 20:44981874-44981874
34 STK4 NM_006282.5(STK4):c.1223T>C (p.Ile408Thr) SNV Uncertain significance 645801 rs980823829 GRCh37: 20:43653689-43653689
GRCh38: 20:45025048-45025048
35 STK4 NM_006282.5(STK4):c.1031C>T (p.Ala344Val) SNV Uncertain significance 473298 rs776978911 GRCh37: 20:43629878-43629878
GRCh38: 20:45001237-45001237
36 STK4 NM_006282.5(STK4):c.1045G>A (p.Asp349Asn) SNV Uncertain significance 575888 rs930004106 GRCh37: 20:43629892-43629892
GRCh38: 20:45001251-45001251
37 STK4 NM_006282.5(STK4):c.1114G>C (p.Ala372Pro) SNV Uncertain significance 576354 rs1568709093 GRCh37: 20:43629961-43629961
GRCh38: 20:45001320-45001320
38 STK4 NM_006282.5(STK4):c.473A>G (p.Asn158Ser) SNV Uncertain significance 565530 rs774250826 GRCh37: 20:43615885-43615885
GRCh38: 20:44987244-44987244
39 STK4 NM_006282.5(STK4):c.722C>T (p.Pro241Leu) SNV Uncertain significance 641185 rs1279829809 GRCh37: 20:43625838-43625838
GRCh38: 20:44997197-44997197
40 STK4 NM_006282.5(STK4):c.1289A>T (p.Asp430Val) SNV Uncertain significance 651391 rs1600495712 GRCh37: 20:43653755-43653755
GRCh38: 20:45025114-45025114
41 STK4 NM_006282.5(STK4):c.1062G>A (p.Met354Ile) SNV Uncertain significance 933452 GRCh37: 20:43629909-43629909
GRCh38: 20:45001268-45001268
42 STK4 NM_006282.5(STK4):c.884A>G (p.Asn295Ser) SNV Uncertain significance 948508 GRCh37: 20:43629085-43629085
GRCh38: 20:45000444-45000444
43 STK4 NM_006282.5(STK4):c.845_846delinsTT (p.Arg282Ile) Indel Uncertain significance 959037 GRCh37: 20:43629046-43629047
GRCh38: 20:45000405-45000406
44 STK4 NM_006282.5(STK4):c.387A>G (p.Ile129Met) SNV Uncertain significance 540522 rs371332575 GRCh37: 20:43615799-43615799
GRCh38: 20:44987158-44987158
45 STK4 NM_006282.5(STK4):c.721C>T (p.Pro241Ser) SNV Uncertain significance 540523 rs371236375 GRCh37: 20:43625837-43625837
GRCh38: 20:44997196-44997196
46 STK4 NM_006282.5(STK4):c.246-10C>T SNV Likely benign 540528 rs755737288 GRCh37: 20:43610460-43610460
GRCh38: 20:44981819-44981819
47 STK4 NM_006282.5(STK4):c.526-7A>G SNV Likely benign 473299 rs528301360 GRCh37: 20:43623724-43623724
GRCh38: 20:44995083-44995083
48 STK4 NM_006282.5(STK4):c.995G>A (p.Arg332Gln) SNV Likely benign 646884 rs146085540 GRCh37: 20:43629842-43629842
GRCh38: 20:45001201-45001201
49 STK4 NM_006282.5(STK4):c.1057A>G (p.Thr353Ala) SNV Likely benign 721197 rs140089638 GRCh37: 20:43629904-43629904
GRCh38: 20:45001263-45001263
50 STK4 NM_006282.5(STK4):c.1296C>T (p.Asp432=) SNV Likely benign 728270 rs752377172 GRCh37: 20:43653762-43653762
GRCh38: 20:45025121-45025121

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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