MCID: IMM076
MIFTS: 18

Immunodeficiency 24

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

Aliases & Classifications for Immunodeficiency 24

MalaCards integrated aliases for Immunodeficiency 24:

Name: Immunodeficiency 24 57 75 29 6 73
Imd24 57 75
Severe Combined Immunodeficiency Due to Ctps1 Deficiency 59
Scid Due to Ctps1 Deficiency 59
Immunodeficiency, Type 24 40

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

32
immunodeficiency 24:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 615897
Orphanet 59 ORPHA420573
ICD10 via Orphanet 34 D81.2
MeSH 44 D007153
SNOMED-CT via HPO 69 258211005 48813009 234532001
UMLS 73 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)

MalaCards based summary : Immunodeficiency 24, is also known as imd24. An important gene associated with Immunodeficiency 24 is CTPS1 (CTP Synthase 1). Affiliated tissues include b cells and t cells, and related phenotypes are lymphopenia and immunodeficiency

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Immunodeficiency 24:

32
# Description HPO Frequency HPO Source Accession
1 lymphopenia 32 HP:0001888
2 immunodeficiency 32 HP:0002721
3 severe viral infections 32 HP:0005364
4 immunoglobulin igg2 deficiency 32 HP:0008348
5 defective t cell proliferation 32 HP:0030253

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:

41
B Cells, T Cells

Publications for Immunodeficiency 24

Variations for Immunodeficiency 24

ClinVar genetic disease variations for Immunodeficiency 24:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTPS1 NM_001905.3(CTPS1): c.1692-1G> C single nucleotide variant Pathogenic rs145092287 GRCh37 Chromosome 1, 41475832: 41475832
2 CTPS1 NM_001905.3(CTPS1): c.1692-1G> C single nucleotide variant Pathogenic rs145092287 GRCh38 Chromosome 1, 41010160: 41010160
3 CTPS1 NM_001905.3(CTPS1): c.501A> G (p.Gln167=) single nucleotide variant Benign rs5030799 GRCh37 Chromosome 1, 41454328: 41454328
4 CTPS1 NM_001905.3(CTPS1): c.501A> G (p.Gln167=) single nucleotide variant Benign rs5030799 GRCh38 Chromosome 1, 40988656: 40988656
5 CTPS1 NM_001905.3(CTPS1): c.525T> C (p.Phe175=) single nucleotide variant Likely benign rs370799321 GRCh37 Chromosome 1, 41454352: 41454352
6 CTPS1 NM_001905.3(CTPS1): c.525T> C (p.Phe175=) single nucleotide variant Likely benign rs370799321 GRCh38 Chromosome 1, 40988680: 40988680
7 CTPS1 NM_001905.3(CTPS1): c.880C> T (p.Arg294Cys) single nucleotide variant Uncertain significance rs372743741 GRCh37 Chromosome 1, 41463073: 41463073
8 CTPS1 NM_001905.3(CTPS1): c.880C> T (p.Arg294Cys) single nucleotide variant Uncertain significance rs372743741 GRCh38 Chromosome 1, 40997401: 40997401
9 CTPS1 NM_001905.3(CTPS1): c.939C> G (p.Ser313=) single nucleotide variant Uncertain significance rs1003752907 GRCh37 Chromosome 1, 41463132: 41463132
10 CTPS1 NM_001905.3(CTPS1): c.939C> G (p.Ser313=) single nucleotide variant Uncertain significance rs1003752907 GRCh38 Chromosome 1, 40997460: 40997460
11 CTPS1 NM_001905.3(CTPS1): c.1617A> G (p.Pro539=) single nucleotide variant Benign rs138555227 GRCh37 Chromosome 1, 41475187: 41475187
12 CTPS1 NM_001905.3(CTPS1): c.1617A> G (p.Pro539=) single nucleotide variant Benign rs138555227 GRCh38 Chromosome 1, 41009515: 41009515
13 CTPS1 NM_001905.3(CTPS1): c.312A> G (p.Gly104=) single nucleotide variant Likely benign rs150868456 GRCh37 Chromosome 1, 41450638: 41450638
14 CTPS1 NM_001905.3(CTPS1): c.312A> G (p.Gly104=) single nucleotide variant Likely benign rs150868456 GRCh38 Chromosome 1, 40984966: 40984966
15 CTPS1 NM_001905.3(CTPS1): c.889G> A (p.Glu297Lys) single nucleotide variant Uncertain significance rs746188198 GRCh37 Chromosome 1, 41463082: 41463082
16 CTPS1 NM_001905.3(CTPS1): c.889G> A (p.Glu297Lys) single nucleotide variant Uncertain significance rs746188198 GRCh38 Chromosome 1, 40997410: 40997410
17 CTPS1 NM_001905.3(CTPS1): c.1191C> T (p.Gly397=) single nucleotide variant Benign rs150821317 GRCh37 Chromosome 1, 41468787: 41468787
18 CTPS1 NM_001905.3(CTPS1): c.1191C> T (p.Gly397=) single nucleotide variant Benign rs150821317 GRCh38 Chromosome 1, 41003115: 41003115
19 CTPS1 NM_001905.3(CTPS1): c.297C> T (p.Asn99=) single nucleotide variant Likely benign GRCh37 Chromosome 1, 41450623: 41450623
20 CTPS1 NM_001905.3(CTPS1): c.297C> T (p.Asn99=) single nucleotide variant Likely benign GRCh38 Chromosome 1, 40984951: 40984951
21 CTPS1 NM_001905.3(CTPS1): c.988C> A (p.His330Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 41463181: 41463181
22 CTPS1 NM_001905.3(CTPS1): c.988C> A (p.His330Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 40997509: 40997509

Expression for Immunodeficiency 24

Search GEO for disease gene expression data for Immunodeficiency 24.

Pathways for Immunodeficiency 24

GO Terms for Immunodeficiency 24

Sources for Immunodeficiency 24

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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