IMD24
MCID: IMM076
MIFTS: 32

Immunodeficiency 24 (IMD24)

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

Aliases & Classifications for Immunodeficiency 24

MalaCards integrated aliases for Immunodeficiency 24:

Name: Immunodeficiency 24 57 12 72 29 6 15 70
Imd24 57 12 72
Severe Combined Immunodeficiency Due to Ctps1 Deficiency 12 58
Scid Due to Ctps1 Deficiency 12 58
Immunodeficiency, Type 24 39

Characteristics:

Orphanet epidemiological data:

58
severe combined immunodeficiency due to ctps1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: early childhood,late childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
may result in early death
onset in first years of life
severe phenotype


HPO:

31
immunodeficiency 24:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111938
OMIM® 57 615897
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
ICD10 via Orphanet 33 D81.2
Orphanet 58 ORPHA420573
UMLS 70 C4014617

Summaries for Immunodeficiency 24

OMIM® : 57 IMD24 is an autosomal recessive immunodeficiency characterized by the impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpesviruses, including Epstein-Barr virus (EBV) and varicella zoster virus (VZV); they also suffer from recurrent encapsulated bacterial infections, a spectrum typical of a combined deficiency of adaptive immunity (CID) (summary by Martin et al., 2014). (615897) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency 24, is also known as imd24. An important gene associated with Immunodeficiency 24 is CTPS1 (CTP Synthase 1), and among its related pathways/superpathways are Metabolism and Biosynthesis of cofactors. Affiliated tissues include b cells and t cells, and related phenotypes are respiratory tract infection and recurrent viral infections

Disease Ontology : 12 A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has material basis in homozygous or compound heterozygous mutation in CTPS1 on chromosome 1p34.2.

UniProtKB/Swiss-Prot : 72 Immunodeficiency 24: A life-threatening immunodeficiency, characterized by an impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpes viruses, including EBV and varicella zooster virus (VZV), and also suffer from recurrent encapsulated bacterial infections, a spectrum of infections typical of a combined deficiency of adaptive immunity.

Related Diseases for Immunodeficiency 24

Symptoms & Phenotypes for Immunodeficiency 24

Human phenotypes related to Immunodeficiency 24:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 respiratory tract infection 31 very rare (1%) HP:0011947
2 recurrent viral infections 31 very rare (1%) HP:0004429
3 lymphoproliferative disorder 31 very rare (1%) HP:0005523
4 decreased proportion of memory b cells 31 very rare (1%) HP:0030374
5 reduced antigen-specific t cell proliferation 31 very rare (1%) HP:0031402
6 severe varicella zoster infection 31 very rare (1%) HP:0032170
7 decreased circulating igg2 level 31 very rare (1%) HP:0008348
8 decreased cd4:cd8 ratio 31 very rare (1%) HP:0033222
9 defective t cell proliferation 31 very rare (1%) HP:0030253
10 decreased specific pneumococcal antibody level 31 very rare (1%) HP:0012476
11 persistent viremia 31 very rare (1%) HP:0032248
12 partial absence of specific antibody response to tetanus vaccine 31 very rare (1%) HP:0410297
13 immunodeficiency 31 HP:0002721
14 lymphopenia 31 HP:0001888

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Immunology:
increased susceptibility to chronic viral infections, including epstein-barr virus, herpes viruses, and varicella zoster virus
increased susceptibility to infections with encapsulated bacteria
lymphopenia, variable
decreased numbers of naive cd4+ t cells
decreased numbers of memory b cells
more
Neoplasia:
increased risk of ebv-driven b-cell lymphoma

Clinical features from OMIM®:

615897 (Updated 05-Apr-2021)

Drugs & Therapeutics for Immunodeficiency 24

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 24

Genetic Tests for Immunodeficiency 24

Genetic tests related to Immunodeficiency 24:

# Genetic test Affiliating Genes
1 Immunodeficiency 24 29 CTPS1

Anatomical Context for Immunodeficiency 24

MalaCards organs/tissues related to Immunodeficiency 24:

40
B Cells, T Cells

Publications for Immunodeficiency 24

Articles related to Immunodeficiency 24:

# Title Authors PMID Year
1
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation. 57 6
24870241 2014
2
CTP Synthase 1 Deficiency in Successfully Transplanted Siblings with Combined Immune Deficiency and Chronic Active EBV Infection. 6
27638562 2016
3
Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature. 61
30869812 2019
4
Pseudomonas aeruginosa diversity in distinct paediatric patient groups. 61
18752596 2008

Variations for Immunodeficiency 24

ClinVar genetic disease variations for Immunodeficiency 24:

6 (show top 50) (show all 54)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTPS1 NM_001905.4(CTPS1):c.1692-1G>C SNV Pathogenic 140454 rs145092287 GRCh37: 1:41475832-41475832
GRCh38: 1:41010160-41010160
2 CTPS1 NM_001905.4(CTPS1):c.1057C>T (p.Arg353Cys) SNV Uncertain significance 1037907 GRCh37: 1:41466752-41466752
GRCh38: 1:41001080-41001080
3 CTPS1 NM_001905.4(CTPS1):c.1007A>T (p.Tyr336Phe) SNV Uncertain significance 1040037 GRCh37: 1:41466702-41466702
GRCh38: 1:41001030-41001030
4 CTPS1 NM_001905.4(CTPS1):c.1397A>G (p.Lys466Arg) SNV Uncertain significance 962137 GRCh37: 1:41474334-41474334
GRCh38: 1:41008662-41008662
5 CTPS1 NM_001905.4(CTPS1):c.880C>T (p.Arg294Cys) SNV Uncertain significance 541952 rs372743741 GRCh37: 1:41463073-41463073
GRCh38: 1:40997401-40997401
6 CTPS1 NM_001905.4(CTPS1):c.988C>A (p.His330Asn) SNV Uncertain significance 541954 rs1553180295 GRCh37: 1:41463181-41463181
GRCh38: 1:40997509-40997509
7 CTPS1 NM_001905.4(CTPS1):c.221A>G (p.Tyr74Cys) SNV Uncertain significance 567100 rs751260098 GRCh37: 1:41450547-41450547
GRCh38: 1:40984875-40984875
8 CTPS1 NM_001905.4(CTPS1):c.1300G>A (p.Val434Ile) SNV Uncertain significance 849322 GRCh37: 1:41473124-41473124
GRCh38: 1:41007452-41007452
9 CTPS1 NM_001905.4(CTPS1):c.1280C>T (p.Thr427Met) SNV Uncertain significance 640057 rs768930904 GRCh37: 1:41471750-41471750
GRCh38: 1:41006078-41006078
10 CTPS1 NM_001905.4(CTPS1):c.607G>C (p.Glu203Gln) SNV Uncertain significance 644321 rs1433781145 GRCh37: 1:41456888-41456888
GRCh38: 1:40991216-40991216
11 CTPS1 NM_001905.4(CTPS1):c.472C>T (p.Pro158Ser) SNV Uncertain significance 649485 rs140029453 GRCh37: 1:41454299-41454299
GRCh38: 1:40988627-40988627
12 CTPS1 NM_001905.4(CTPS1):c.1692G>A (p.Arg564=) SNV Uncertain significance 655353 rs201074432 GRCh37: 1:41475833-41475833
GRCh38: 1:41010161-41010161
13 CTPS1 NM_001905.4(CTPS1):c.1009A>G (p.Ile337Val) SNV Uncertain significance 656908 rs140093917 GRCh37: 1:41466704-41466704
GRCh38: 1:41001032-41001032
14 CTPS1 NM_001905.4(CTPS1):c.1087A>G (p.Ser363Gly) SNV Uncertain significance 657856 rs149054758 GRCh37: 1:41466782-41466782
GRCh38: 1:41001110-41001110
15 CTPS1 NM_001905.4(CTPS1):c.242G>A (p.Arg81His) SNV Uncertain significance 658314 rs376970699 GRCh37: 1:41450568-41450568
GRCh38: 1:40984896-40984896
16 CTPS1 NM_001905.4(CTPS1):c.1403A>G (p.Tyr468Cys) SNV Uncertain significance 658475 rs144358815 GRCh37: 1:41474340-41474340
GRCh38: 1:41008668-41008668
17 CTPS1 NM_001905.4(CTPS1):c.1392G>C (p.Met464Ile) SNV Uncertain significance 665086 rs773684585 GRCh37: 1:41473216-41473216
GRCh38: 1:41007544-41007544
18 CTPS1 NM_001905.4(CTPS1):c.889G>A (p.Glu297Lys) SNV Uncertain significance 541953 rs746188198 GRCh37: 1:41463082-41463082
GRCh38: 1:40997410-40997410
19 CTPS1 NM_001905.4(CTPS1):c.939C>G (p.Ser313=) SNV Uncertain significance 541955 rs1003752907 GRCh37: 1:41463132-41463132
GRCh38: 1:40997460-40997460
20 CTPS1 NM_001905.4(CTPS1):c.636T>A (p.Asp212Glu) SNV Uncertain significance 566259 rs1558142847 GRCh37: 1:41456917-41456917
GRCh38: 1:40991245-40991245
21 CTPS1 NM_001905.4(CTPS1):c.451G>A (p.Val151Met) SNV Uncertain significance 575496 rs372858150 GRCh37: 1:41454278-41454278
GRCh38: 1:40988606-40988606
22 CTPS1 NM_001905.4(CTPS1):c.1379A>G (p.Lys460Arg) SNV Uncertain significance 849944 GRCh37: 1:41473203-41473203
GRCh38: 1:41007531-41007531
23 CTPS1 NM_001905.4(CTPS1):c.370T>G (p.Trp124Gly) SNV Uncertain significance 947271 GRCh37: 1:41453076-41453076
GRCh38: 1:40987404-40987404
24 CTPS1 NM_001905.4(CTPS1):c.1166G>C (p.Arg389Pro) SNV Uncertain significance 1003254 GRCh37: 1:41467903-41467903
GRCh38: 1:41002231-41002231
25 CTPS1 NM_001905.4(CTPS1):c.386C>T (p.Ala129Val) SNV Uncertain significance 1003774 GRCh37: 1:41453092-41453092
GRCh38: 1:40987420-40987420
26 CTPS1 NM_001905.4(CTPS1):c.586C>T (p.Pro196Ser) SNV Uncertain significance 1005595 GRCh37: 1:41456867-41456867
GRCh38: 1:40991195-40991195
27 CTPS1 NM_001905.4(CTPS1):c.1769A>G (p.His590Arg) SNV Uncertain significance 1005750 GRCh37: 1:41475910-41475910
GRCh38: 1:41010238-41010238
28 CTPS1 NM_001905.4(CTPS1):c.1274_1275delinsTT (p.Asp425Val) Indel Uncertain significance 1008047 GRCh37: 1:41471744-41471745
GRCh38: 1:41006072-41006073
29 CTPS1 NM_001905.4(CTPS1):c.336A>G (p.Gln112=) SNV Uncertain significance 844360 GRCh37: 1:41450662-41450662
GRCh38: 1:40984990-40984990
30 CTPS1 NM_001905.4(CTPS1):c.287A>G (p.Tyr96Cys) SNV Uncertain significance 850731 GRCh37: 1:41450613-41450613
GRCh38: 1:40984941-40984941
31 CTPS1 NM_001905.4(CTPS1):c.1691+6C>T SNV Uncertain significance 941961 GRCh37: 1:41475267-41475267
GRCh38: 1:41009595-41009595
32 CTPS1 NM_001905.4(CTPS1):c.1692-3C>T SNV Uncertain significance 1014681 GRCh37: 1:41475830-41475830
GRCh38: 1:41010158-41010158
33 CTPS1 NM_001905.4(CTPS1):c.1697C>T (p.Thr566Ile) SNV Uncertain significance 1015162 GRCh37: 1:41475838-41475838
GRCh38: 1:41010166-41010166
34 CTPS1 NM_001905.4(CTPS1):c.1459G>C (p.Val487Leu) SNV Uncertain significance 1025018 GRCh37: 1:41474475-41474475
GRCh38: 1:41008803-41008803
35 CTPS1 NM_001905.4(CTPS1):c.1649G>A (p.Arg550Gln) SNV Uncertain significance 662967 rs776186929 GRCh37: 1:41475219-41475219
GRCh38: 1:41009547-41009547
36 CTPS1 NM_001905.4(CTPS1):c.790G>T (p.Asp264Tyr) SNV Uncertain significance 847667 GRCh37: 1:41461658-41461658
GRCh38: 1:40995986-40995986
37 CTPS1 NM_001905.4(CTPS1):c.1411G>A (p.Ala471Thr) SNV Uncertain significance 933513 GRCh37: 1:41474348-41474348
GRCh38: 1:41008676-41008676
38 CTPS1 NM_001905.4(CTPS1):c.1294G>A (p.Val432Met) SNV Uncertain significance 937255 GRCh37: 1:41471764-41471764
GRCh38: 1:41006092-41006092
39 CTPS1 NM_001905.4(CTPS1):c.1095-5T>G SNV Uncertain significance 944489 GRCh37: 1:41467827-41467827
GRCh38: 1:41002155-41002155
40 CTPS1 NM_001905.4(CTPS1):c.1054G>A (p.Val352Met) SNV Uncertain significance 951662 GRCh37: 1:41466749-41466749
GRCh38: 1:41001077-41001077
41 CTPS1 NM_001905.4(CTPS1):c.1281G>A (p.Thr427=) SNV Likely benign 720253 rs145143197 GRCh37: 1:41471751-41471751
GRCh38: 1:41006079-41006079
42 CTPS1 NM_001905.4(CTPS1):c.1276C>G (p.Pro426Ala) SNV Likely benign 722799 rs139322260 GRCh37: 1:41471746-41471746
GRCh38: 1:41006074-41006074
43 CTPS1 NM_001905.4(CTPS1):c.1488C>T (p.Gly496=) SNV Likely benign 728570 rs201824063 GRCh37: 1:41474504-41474504
GRCh38: 1:41008832-41008832
44 CTPS1 NM_001905.4(CTPS1):c.525T>C (p.Phe175=) SNV Likely benign 541957 rs370799321 GRCh37: 1:41454352-41454352
GRCh38: 1:40988680-40988680
45 CTPS1 NM_001905.4(CTPS1):c.1152A>G (p.Ala384=) SNV Likely benign 757007 rs138406396 GRCh37: 1:41467889-41467889
GRCh38: 1:41002217-41002217
46 CTPS1 NM_001905.4(CTPS1):c.1755T>C (p.Phe585=) SNV Likely benign 766542 rs1570987022 GRCh37: 1:41475896-41475896
GRCh38: 1:41010224-41010224
47 CTPS1 NM_001905.4(CTPS1):c.556-9G>T SNV Likely benign 769511 rs200737909 GRCh37: 1:41456828-41456828
GRCh38: 1:40991156-40991156
48 CTPS1 NM_001905.4(CTPS1):c.312A>G (p.Gly104=) SNV Likely benign 541959 rs150868456 GRCh37: 1:41450638-41450638
GRCh38: 1:40984966-40984966
49 CTPS1 NM_001905.4(CTPS1):c.501A>G (p.Gln167=) SNV Benign 475187 rs5030799 GRCh37: 1:41454328-41454328
GRCh38: 1:40988656-40988656
50 CTPS1 NM_001905.4(CTPS1):c.570G>A (p.Gly190=) SNV Benign 784633 rs116134285 GRCh37: 1:41456851-41456851
GRCh38: 1:40991179-40991179

Expression for Immunodeficiency 24

Search GEO for disease gene expression data for Immunodeficiency 24.

Pathways for Immunodeficiency 24

Pathways related to Immunodeficiency 24 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 SRR PPAT PMM1 MDH1 ENO4 CTPS1
2
Show member pathways
11.02 PMM1 CTPS1 COQ5

GO Terms for Immunodeficiency 24

Biological processes related to Immunodeficiency 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.13 SRR PPAT CTPS1
2 glutamine metabolic process GO:0006541 8.62 PPAT CTPS1

Molecular functions related to Immunodeficiency 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 isomerase activity GO:0016853 8.96 SRR PMM1
2 catalytic activity GO:0003824 8.8 SRR PPAT MDH1

Sources for Immunodeficiency 24

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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