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CVID3
MCID: IMM030
MIFTS: 23

Immunodeficiency, Common Variable, 3 (CVID3)

Categories: Genetic diseases, Immune diseases
Genes Variations Tissues Publications Symptoms & Phenotypes
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Aliases & Classifications for Immunodeficiency, Common Variable, 3

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MalaCards integrated aliases for Immunodeficiency, Common Variable, 3:

Name: Immunodeficiency, Common Variable, 3 57 72 13
Antibody Deficiency Due to Cd19 Defect 57 72
Common Variable Immunodeficiency 3 29 6
Cvid3 57 72
Immunodeficiency, Variable, Common, Type 3 39
Antibody Deficiency Due to Defect in Cd19 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

31
immunodeficiency, common variable, 3:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 613493
OMIM Phenotypic Series 57 PS607594
MeSH 44 D017074
MedGen 41 C3150738
UMLS 70 C3150738
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Summaries for Immunodeficiency, Common Variable, 3

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UniProtKB/Swiss-Prot : 72 Immunodeficiency, common variable, 3: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low.

MalaCards based summary : Immunodeficiency, Common Variable, 3, is also known as antibody deficiency due to cd19 defect. An important gene associated with Immunodeficiency, Common Variable, 3 is CD19 (CD19 Molecule). Affiliated tissues include b cells and t cells, and related phenotypes are immunodeficiency and recurrent otitis media

More information from OMIM: 613493 PS607594
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Related Diseases for Immunodeficiency, Common Variable, 3

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Symptoms & Phenotypes for Immunodeficiency, Common Variable, 3

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Human phenotypes related to Immunodeficiency, Common Variable, 3:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 recurrent otitis media 31 HP:0000403
3 conjunctivitis 31 HP:0000509
4 recurrent bacterial infections 31 HP:0002718
5 recurrent sinusitis 31 HP:0011108
6 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory:
respiratory infections, recurrent

Head And Neck Head:
sinusitis, recurrent

Head And Neck Eyes:
conjunctivitis, recurrent

Laboratory Abnormalities:
low serum igg and iga
low or normal serum igm

Immunology:
hypogammaglobulinemia
normal numbers of b cells
bacterial infections, recurrent
defective antibody production
normal numbers of t cells
more
Head And Neck Ears:
otitis media, recurrent

Genitourinary Kidneys:
glomerulonephritis, postinfectious (1 patient)

Clinical features from OMIM®:

613493 (Updated 20-May-2021)

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Drugs & Therapeutics for Immunodeficiency, Common Variable, 3

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Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 3

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Genetic Tests for Immunodeficiency, Common Variable, 3

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Genetic tests related to Immunodeficiency, Common Variable, 3:

# Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 3 29 CD19
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Anatomical Context for Immunodeficiency, Common Variable, 3

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MalaCards organs/tissues related to Immunodeficiency, Common Variable, 3:

40
B Cells, T Cells
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Publications for Immunodeficiency, Common Variable, 3

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Articles related to Immunodeficiency, Common Variable, 3:

# Title Authors PMID Year
1
Antibody deficiency due to a missense mutation in CD19 demonstrates the importance of the conserved tryptophan 41 in immunoglobulin superfamily domain formation. 6 57
21330302 2011
2
Defects in the CD19 complex predispose to glomerulonephritis, as well as IgG1 subclass deficiency. 6 57
21159371 2011
3
Novel mutations in a Japanese patient with CD19 deficiency. 6 57
17882224 2007
4
An antibody-deficiency syndrome due to mutations in the CD19 gene. 6 57
16672701 2006
5
Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation. 57
24418477 2014
6
B-cell maturation and antibody responses in individuals carrying a mutated CD19 allele. 57
20445561 2010
7
[Primary hypogammaglobulinemia complicated with liver cirrhosis and literature review]. 61
27143082 2016
8
T- and B-lymphocytes in immunological disorders. 61
4377862 1974
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Variations for Immunodeficiency, Common Variable, 3

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ClinVar genetic disease variations for Immunodeficiency, Common Variable, 3:

6 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD19 CD19, 1-BP INS, 972A Insertion Pathogenic 18054 GRCh37:
GRCh38:
2 CD19 CD19, 2-BP DEL, 1384GA Deletion Pathogenic 18055 GRCh37:
GRCh38:
3 CD19 NM_001770.5(CD19):c.1464del (p.Ser489fs) Deletion Pathogenic 254196 rs886037921 GRCh37: 16:28949121-28949121
GRCh38: 16:28937800-28937800
4 CD19 NM_001770.5(CD19):c.947-1G>T SNV Pathogenic 254194 rs1567506566 GRCh37: 16:28947473-28947473
GRCh38: 16:28936152-28936152
5 CD19 NM_001770.5(CD19):c.156G>C (p.Trp52Cys) SNV Pathogenic 254195 rs886037920 GRCh37: 16:28943734-28943734
GRCh38: 16:28932413-28932413
6 CD19 NM_001770.5(CD19):c.1653_*9delins23 Indel Pathogenic 254197 GRCh37: 16:28950266-28950293
GRCh38: 16:28938945-28938972
7 CD19 NM_001770.6(CD19):c.1198+2T>G SNV Likely pathogenic 811565 rs1596718225 GRCh37: 16:28948459-28948459
GRCh38: 16:28937138-28937138
8 CD19 NM_001770.5(CD19):c.390T>A (p.Gly130=) SNV Conflicting interpretations of pathogenicity 318800 rs573154781 GRCh37: 16:28944266-28944266
GRCh38: 16:28932945-28932945
9 CD19 NM_001770.6(CD19):c.854T>C (p.Leu285Pro) SNV Uncertain significance 973628 GRCh37: 16:28946783-28946783
GRCh38: 16:28935462-28935462
10 CD19 NM_001770.5(CD19):c.*151G>A SNV Uncertain significance 318822 rs879933623 GRCh37: 16:28950597-28950597
GRCh38: 16:28939276-28939276
11 CD19 NM_001770.5(CD19):c.*11G>A SNV Uncertain significance 318814 rs535901247 GRCh37: 16:28950295-28950295
GRCh38: 16:28938974-28938974
12 CD19 NM_001770.5(CD19):c.171G>A (p.Pro57=) SNV Uncertain significance 318797 rs199665700 GRCh37: 16:28943749-28943749
GRCh38: 16:28932428-28932428
13 CD19 NM_001770.5(CD19):c.*100T>C SNV Uncertain significance 318817 rs766679967 GRCh37: 16:28950546-28950546
GRCh38: 16:28939225-28939225
14 CD19 NM_001770.5(CD19):c.*180C>T SNV Uncertain significance 318823 rs886051890 GRCh37: 16:28950626-28950626
GRCh38: 16:28939305-28939305
15 CD19 NM_001770.5(CD19):c.836-13C>G SNV Uncertain significance 318806 rs371868433 GRCh37: 16:28946752-28946752
GRCh38: 16:28935431-28935431
16 CD19 NM_001770.5(CD19):c.-16G>A SNV Uncertain significance 318795 rs201081926 GRCh37: 16:28943306-28943306
GRCh38: 16:28931985-28931985
17 CD19 NM_001770.5(CD19):c.1580-14C>T SNV Uncertain significance 318812 rs376505803 GRCh37: 16:28950179-28950179
GRCh38: 16:28938858-28938858
18 CD19 NM_001770.5(CD19):c.*37A>G SNV Uncertain significance 318815 rs756122612 GRCh37: 16:28950483-28950483
GRCh38: 16:28939162-28939162
19 CD19 NM_001770.5(CD19):c.1371C>T (p.Asn457=) SNV Uncertain significance 318810 rs199570434 GRCh37: 16:28948843-28948843
GRCh38: 16:28937522-28937522
20 CD19 NM_001770.5(CD19):c.1204G>A (p.Glu402Lys) SNV Uncertain significance 318807 rs886051887 GRCh37: 16:28948597-28948597
GRCh38: 16:28937276-28937276
21 CD19 NM_001770.5(CD19):c.*71C>T SNV Uncertain significance 318816 rs886051888 GRCh37: 16:28950517-28950517
GRCh38: 16:28939196-28939196
22 CD19 NM_001770.5(CD19):c.384C>T (p.Asp128=) SNV Uncertain significance 318799 rs200748731 GRCh37: 16:28944260-28944260
GRCh38: 16:28932939-28932939
23 CD19 NM_001770.5(CD19):c.17T>G (p.Leu6Arg) SNV Uncertain significance 318796 rs886051886 GRCh37: 16:28943338-28943338
GRCh38: 16:28932017-28932017
24 CD19 NM_001770.5(CD19):c.835+3A>G SNV Uncertain significance 235527 rs374608144 GRCh37: 16:28944833-28944833
GRCh38: 16:28933512-28933512
25 CD19 NM_001770.6(CD19):c.61G>C (p.Glu21Gln) SNV Uncertain significance 885125 GRCh37: 16:28943382-28943382
GRCh38: 16:28932061-28932061
26 CD19 NM_001770.6(CD19):c.1469G>A (p.Arg490Gln) SNV Uncertain significance 885193 GRCh37: 16:28949129-28949129
GRCh38: 16:28937808-28937808
27 CD19 NM_001770.6(CD19):c.*65A>G SNV Uncertain significance 885194 GRCh37: 16:28950511-28950511
GRCh38: 16:28939190-28939190
28 CD19 NM_001770.6(CD19):c.246T>C (p.Leu82=) SNV Uncertain significance 886036 GRCh37: 16:28943824-28943824
GRCh38: 16:28932503-28932503
29 CD19 NM_001770.6(CD19):c.323A>C (p.Gln108Pro) SNV Uncertain significance 886037 GRCh37: 16:28943901-28943901
GRCh38: 16:28932580-28932580
30 CD19 NM_001770.6(CD19):c.*204A>G SNV Uncertain significance 886095 GRCh37: 16:28950650-28950650
GRCh38: 16:28939329-28939329
31 CD19 NM_001770.6(CD19):c.488G>A (p.Arg163His) SNV Uncertain significance 887029 GRCh37: 16:28944364-28944364
GRCh38: 16:28933043-28933043
32 CD19 NM_001770.6(CD19):c.530G>C (p.Arg177Thr) SNV Uncertain significance 887030 GRCh37: 16:28944406-28944406
GRCh38: 16:28933085-28933085
33 CD19 NM_001770.6(CD19):c.687G>C (p.Glu229Asp) SNV Uncertain significance 887031 GRCh37: 16:28944682-28944682
GRCh38: 16:28933361-28933361
34 CD19 NM_001770.6(CD19):c.788G>A (p.Arg263His) SNV Uncertain significance 888298 GRCh37: 16:28944783-28944783
GRCh38: 16:28933462-28933462
35 CD19 NM_001770.6(CD19):c.846C>A (p.His282Gln) SNV Uncertain significance 888299 GRCh37: 16:28946775-28946775
GRCh38: 16:28935454-28935454
36 CD19 NM_001770.6(CD19):c.988A>G (p.Thr330Ala) SNV Uncertain significance 888300 GRCh37: 16:28947515-28947515
GRCh38: 16:28936194-28936194
37 CD19 NM_001770.5(CD19):c.1042T>C (p.Tyr348His) SNV Uncertain significance 638466 rs1596717340 GRCh37: 16:28947879-28947879
GRCh38: 16:28936558-28936558
38 CD19 NM_001770.6(CD19):c.178C>T (p.Pro60Ser) SNV Uncertain significance 827973 rs1010611591 GRCh37: 16:28943756-28943756
GRCh38: 16:28932435-28932435
39 CD19 NM_001770.6(CD19):c.147G>A (p.Gln49=) SNV Uncertain significance 723603 rs140445039 GRCh37: 16:28943725-28943725
GRCh38: 16:28932404-28932404
40 CD19 NM_001178098.2(CD19):c.1638del (p.Gly547fs) Deletion Uncertain significance 632247 rs774006181 GRCh37: 16:28950248-28950248
GRCh38: 16:28938927-28938927
41 CD19 NM_001770.5(CD19):c.1580-4C>A SNV Uncertain significance 318813 rs148808609 GRCh37: 16:28950189-28950189
GRCh38: 16:28938868-28938868
42 CD19 NM_001770.5(CD19):c.1274C>T (p.Ser425Phe) SNV Uncertain significance 318808 rs142818579 GRCh37: 16:28948667-28948667
GRCh38: 16:28937346-28937346
43 CD19 NM_001770.5(CD19):c.527C>T (p.Pro176Leu) SNV Uncertain significance 318804 rs148200569 GRCh37: 16:28944403-28944403
GRCh38: 16:28933082-28933082
44 CD19 NM_001770.5(CD19):c.395T>G (p.Leu132Arg) SNV Uncertain significance 318801 rs146795664 GRCh37: 16:28944271-28944271
GRCh38: 16:28932950-28932950
45 CD19 NM_001770.6(CD19):c.228G>T (p.Arg76Ser) SNV Uncertain significance 1033867 GRCh37: 16:28943806-28943806
GRCh38: 16:28932485-28932485
46 CD19 NM_001770.5(CD19):c.381G>A (p.Ser127=) SNV Likely benign 318798 rs142342927 GRCh37: 16:28944257-28944257
GRCh38: 16:28932936-28932936
47 CD19 NM_001770.5(CD19):c.1311C>T (p.Ser437=) SNV Likely benign 318809 rs148047850 GRCh37: 16:28948783-28948783
GRCh38: 16:28937462-28937462
48 CD19 NM_001770.6(CD19):c.47T>C (p.Met16Thr) SNV Likely benign 973629 GRCh37: 16:28943368-28943368
GRCh38: 16:28932047-28932047
49 CD19 NM_001770.5(CD19):c.406C>T (p.Leu136=) SNV Likely benign 318802 rs117769220 GRCh37: 16:28944282-28944282
GRCh38: 16:28932961-28932961
50 CD19 NM_001770.5(CD19):c.705G>T (p.Pro235=) SNV Benign 318805 rs35979293 GRCh37: 16:28944700-28944700
GRCh38: 16:28933379-28933379
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Expression for Immunodeficiency, Common Variable, 3

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Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 3.
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Pathways for Immunodeficiency, Common Variable, 3

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GO Terms for Immunodeficiency, Common Variable, 3

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Sources for Immunodeficiency, Common Variable, 3

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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