MCID: IMM143
MIFTS: 24

Immunodeficiency 48

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

Aliases & Classifications for Immunodeficiency 48

MalaCards integrated aliases for Immunodeficiency 48:

Name: Immunodeficiency 48 57 75
Selective T-Cell Defect 57 75 13
Imd48 57 75
Stcd 57 75
Combined Immunodeficiency Due to Zap70 Deficiency 59
Zeta-Associated-Protein 70 Deficiency 59
Selective T-Cell Defect; Stcd 57
Immunodeficiency, Type 48 40
Zap70 Deficiency 73

Characteristics:

Orphanet epidemiological data:

59
combined immunodeficiency due to zap70 deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
immunodeficiency 48:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 269840
Orphanet 59 ORPHA911
UMLS via Orphanet 74 C2931299
ICD10 via Orphanet 34 D81.8
MeSH 44 D016511
UMLS 73 C2931299

Summaries for Immunodeficiency 48

UniProtKB/Swiss-Prot : 75 Immunodeficiency 48: A form of severe immunodeficiency characterized by a selective absence of CD8+ T-cells.

MalaCards based summary : Immunodeficiency 48, also known as selective t-cell defect, is related to zap-70 deficiency and zap70-related severe combined immunodeficiency, and has symptoms including diarrhea An important gene associated with Immunodeficiency 48 is ZAP70 (Zeta Chain Of T Cell Receptor Associated Protein Kinase 70). Affiliated tissues include t cells and b cells, and related phenotypes are failure to thrive and splenomegaly

Description from OMIM: 269840

Related Diseases for Immunodeficiency 48

Diseases related to Immunodeficiency 48 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 zap-70 deficiency 11.3
2 zap70-related severe combined immunodeficiency 11.3
3 purine nucleoside phosphorylase deficiency 9.7

Symptoms & Phenotypes for Immunodeficiency 48

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Laboratory Abnormalities:
panhypogammaglobulinemia
defective (ca2+) mobilization in t cells

Respiratory Lung:
pneumonia, particularly pneumocystis carinii
parainfluenza pneumonitis

AbdomenSpleen:
splenomegaly

Abdomen Gastrointestinal:
diarrhea

Skin Nails Hair Skin:
candidiasis
chronic eczematoid rash

Immunology:
normal number of circulating lymphocytes
increased number of circulating lymphocytes
absent cd8+ t cells
abundant cd4+ t cells
normal number of natural killer cells
more

Clinical features from OMIM:

269840

Human phenotypes related to Immunodeficiency 48:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 splenomegaly 32 HP:0001744
3 hepatomegaly 32 HP:0002240
4 diarrhea 32 HP:0002014
5 pneumonia 32 HP:0002090
6 panhypogammaglobulinemia 32 HP:0003139
7 recurrent candida infections 32 HP:0005401
8 eczematoid dermatitis 32 HP:0000976

UMLS symptoms related to Immunodeficiency 48:


diarrhea

Drugs & Therapeutics for Immunodeficiency 48

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 48

Genetic Tests for Immunodeficiency 48

Anatomical Context for Immunodeficiency 48

MalaCards organs/tissues related to Immunodeficiency 48:

41
T Cells, B Cells

Publications for Immunodeficiency 48

Articles related to Immunodeficiency 48:

# Title Authors Year
1
The metabolism of deoxyguanosine and guanosine in human B and T lymphoblasts. A role for deoxyguanosine kinase activity in the selective T-cell defect associated with purine nucleoside phosphorylase deficiency. ( 6312962 )
1983

Variations for Immunodeficiency 48

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 48:

75
# Symbol AA change Variation ID SNP ID
1 ZAP70 p.Ser518Arg VAR_006351 rs104893674
2 ZAP70 p.Arg465His VAR_015538 rs137853201
3 ZAP70 p.Leu337Arg VAR_065623
4 ZAP70 p.Arg465Cys VAR_065624 rs113994174
5 ZAP70 p.Ala507Val VAR_065625
6 ZAP70 p.Cys564Arg VAR_065626

ClinVar genetic disease variations for Immunodeficiency 48:

6
(show all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZAP70 NM_001079.3(ZAP70): c.1624-11G> A single nucleotide variant Pathogenic rs730880318 GRCh38 Chromosome 2, 97737984: 97737984
2 ZAP70 NM_001079.3(ZAP70): c.1624-11G> A single nucleotide variant Pathogenic rs730880318 GRCh37 Chromosome 2, 98354447: 98354447
3 ZAP70 NM_001079.3(ZAP70): c.1554C> A (p.Ser518Arg) single nucleotide variant Pathogenic rs104893674 GRCh37 Chromosome 2, 98354291: 98354291
4 ZAP70 NM_001079.3(ZAP70): c.1554C> A (p.Ser518Arg) single nucleotide variant Pathogenic rs104893674 GRCh38 Chromosome 2, 97737828: 97737828
5 ZAP70 NM_001079.3(ZAP70): c.1510_1522delAAGTGGTACGCAC (p.Lys504Profs) deletion Pathogenic rs730880319 GRCh38 Chromosome 2, 97737784: 97737796
6 ZAP70 NM_001079.3(ZAP70): c.1510_1522delAAGTGGTACGCAC (p.Lys504Profs) deletion Pathogenic rs730880319 GRCh37 Chromosome 2, 98354247: 98354259
7 ZAP70 NM_001079.3(ZAP70): c.1394G> A (p.Arg465His) single nucleotide variant Pathogenic rs137853201 GRCh37 Chromosome 2, 98354040: 98354040
8 ZAP70 NM_001079.3(ZAP70): c.1394G> A (p.Arg465His) single nucleotide variant Pathogenic rs137853201 GRCh38 Chromosome 2, 97737577: 97737577
9 ZAP70 NM_001079.3(ZAP70): c.1393C> T (p.Arg465Cys) single nucleotide variant Pathogenic rs113994174 GRCh37 Chromosome 2, 98354039: 98354039
10 ZAP70 NM_001079.3(ZAP70): c.1393C> T (p.Arg465Cys) single nucleotide variant Pathogenic rs113994174 GRCh38 Chromosome 2, 97737576: 97737576
11 ZAP70 NM_001079.3(ZAP70): c.837+121G> A single nucleotide variant Pathogenic rs113994173 GRCh37 Chromosome 2, 98349927: 98349927
12 ZAP70 NM_001079.3(ZAP70): c.837+121G> A single nucleotide variant Pathogenic rs113994173 GRCh38 Chromosome 2, 97733464: 97733464
13 ZAP70 NM_001079.3(ZAP70): c.447G> A (p.Val149=) single nucleotide variant Conflicting interpretations of pathogenicity rs61735392 GRCh38 Chromosome 2, 97725136: 97725136
14 ZAP70 NM_001079.3(ZAP70): c.447G> A (p.Val149=) single nucleotide variant Conflicting interpretations of pathogenicity rs61735392 GRCh37 Chromosome 2, 98341599: 98341599
15 ZAP70 NM_001079.3(ZAP70): c.672C> T (p.Pro224=) single nucleotide variant Benign/Likely benign rs56340622 GRCh37 Chromosome 2, 98349454: 98349454
16 ZAP70 NM_001079.3(ZAP70): c.672C> T (p.Pro224=) single nucleotide variant Benign/Likely benign rs56340622 GRCh38 Chromosome 2, 97732991: 97732991
17 ZAP70 NM_001079.3(ZAP70): c.1025T> C (p.Ile342Thr) single nucleotide variant Uncertain significance rs142702703 GRCh37 Chromosome 2, 98351118: 98351118
18 ZAP70 NM_001079.3(ZAP70): c.1025T> C (p.Ile342Thr) single nucleotide variant Uncertain significance rs142702703 GRCh38 Chromosome 2, 97734655: 97734655
19 ZAP70 NM_001079.3(ZAP70): c.1737-3C> T single nucleotide variant Uncertain significance rs56249179 GRCh37 Chromosome 2, 98355835: 98355835
20 ZAP70 NM_001079.3(ZAP70): c.1737-3C> T single nucleotide variant Uncertain significance rs56249179 GRCh38 Chromosome 2, 97739372: 97739372
21 ZAP70 NM_001079.3(ZAP70): c.105G> A (p.Leu35=) single nucleotide variant Benign/Likely benign rs56127120 GRCh38 Chromosome 2, 97724141: 97724141
22 ZAP70 NM_001079.3(ZAP70): c.105G> A (p.Leu35=) single nucleotide variant Benign/Likely benign rs56127120 GRCh37 Chromosome 2, 98340604: 98340604
23 ZAP70 NM_001079.3(ZAP70): c.1467C> T (p.Asp489=) single nucleotide variant Benign/Likely benign rs55997284 GRCh37 Chromosome 2, 98354113: 98354113
24 ZAP70 NM_001079.3(ZAP70): c.1467C> T (p.Asp489=) single nucleotide variant Benign/Likely benign rs55997284 GRCh38 Chromosome 2, 97737650: 97737650
25 ZAP70 NM_001079.3(ZAP70): c.1656C> T (p.Ile552=) single nucleotide variant Likely benign rs150096962 GRCh38 Chromosome 2, 97738027: 97738027
26 ZAP70 NM_001079.3(ZAP70): c.1656C> T (p.Ile552=) single nucleotide variant Likely benign rs150096962 GRCh37 Chromosome 2, 98354490: 98354490
27 ZAP70 NM_001079.3(ZAP70): c.531T> C (p.Leu177=) single nucleotide variant Benign rs115846138 GRCh38 Chromosome 2, 97725220: 97725220
28 ZAP70 NM_001079.3(ZAP70): c.531T> C (p.Leu177=) single nucleotide variant Benign rs115846138 GRCh37 Chromosome 2, 98341683: 98341683
29 ZAP70 NM_001079.3(ZAP70): c.786C> T (p.Ala262=) single nucleotide variant Likely benign rs916598301 GRCh38 Chromosome 2, 97733208: 97733208
30 ZAP70 NM_001079.3(ZAP70): c.786C> T (p.Ala262=) single nucleotide variant Likely benign rs916598301 GRCh37 Chromosome 2, 98349671: 98349671
31 ZAP70 NM_001079.3(ZAP70): c.1082+8C> T single nucleotide variant Benign rs55933862 GRCh37 Chromosome 2, 98351183: 98351183
32 ZAP70 NM_001079.3(ZAP70): c.1082+8C> T single nucleotide variant Benign rs55933862 GRCh38 Chromosome 2, 97734720: 97734720
33 ZAP70 NM_001079.3(ZAP70): c.7G> C (p.Asp3His) single nucleotide variant Uncertain significance rs1009114725 GRCh37 Chromosome 2, 98340506: 98340506
34 ZAP70 NM_001079.3(ZAP70): c.7G> C (p.Asp3His) single nucleotide variant Uncertain significance rs1009114725 GRCh38 Chromosome 2, 97724043: 97724043
35 ZAP70 NM_001079.3(ZAP70): c.594C> T (p.Tyr198=) single nucleotide variant Likely benign rs144360023 GRCh37 Chromosome 2, 98349376: 98349376
36 ZAP70 NM_001079.3(ZAP70): c.594C> T (p.Tyr198=) single nucleotide variant Likely benign rs144360023 GRCh38 Chromosome 2, 97732913: 97732913
37 ZAP70 NM_001079.3(ZAP70): c.464C> T (p.Thr155Met) single nucleotide variant Benign rs145955907 GRCh37 Chromosome 2, 98341616: 98341616
38 ZAP70 NM_001079.3(ZAP70): c.464C> T (p.Thr155Met) single nucleotide variant Benign rs145955907 GRCh38 Chromosome 2, 97725153: 97725153
39 ZAP70 NM_001079.3(ZAP70): c.1722C> T (p.Asp574=) single nucleotide variant Likely benign rs199831214 GRCh37 Chromosome 2, 98354556: 98354556
40 ZAP70 NM_001079.3(ZAP70): c.1722C> T (p.Asp574=) single nucleotide variant Likely benign rs199831214 GRCh38 Chromosome 2, 97738093: 97738093
41 ZAP70 NM_001079.3(ZAP70): c.1289+4A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 97735460: 97735460
42 ZAP70 NM_001079.3(ZAP70): c.1289+4A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 98351923: 98351923
43 ZAP70 NM_001079.3(ZAP70): c.1623+7G> A single nucleotide variant Benign rs56065241 GRCh37 Chromosome 2, 98354367: 98354367
44 ZAP70 NM_001079.3(ZAP70): c.1623+7G> A single nucleotide variant Benign rs56065241 GRCh38 Chromosome 2, 97737904: 97737904
45 ZAP70 NM_001079.3(ZAP70): c.1638G> A (p.Pro546=) single nucleotide variant Benign rs115143372 GRCh38 Chromosome 2, 97738009: 97738009
46 ZAP70 NM_001079.3(ZAP70): c.1638G> A (p.Pro546=) single nucleotide variant Benign rs115143372 GRCh37 Chromosome 2, 98354472: 98354472
47 ZAP70 NM_001079.3(ZAP70): c.1289+10G> A single nucleotide variant Benign rs200538234 GRCh37 Chromosome 2, 98351929: 98351929
48 ZAP70 NM_001079.3(ZAP70): c.1289+10G> A single nucleotide variant Benign rs200538234 GRCh38 Chromosome 2, 97735466: 97735466
49 ZAP70 NM_001079.3(ZAP70): c.1415G> A (p.Arg472Gln) single nucleotide variant Uncertain significance rs758807149 GRCh37 Chromosome 2, 98354061: 98354061
50 ZAP70 NM_001079.3(ZAP70): c.1415G> A (p.Arg472Gln) single nucleotide variant Uncertain significance rs758807149 GRCh38 Chromosome 2, 97737598: 97737598

Expression for Immunodeficiency 48

Search GEO for disease gene expression data for Immunodeficiency 48.

Pathways for Immunodeficiency 48

GO Terms for Immunodeficiency 48

Sources for Immunodeficiency 48

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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