CVID7
MCID: IMM058
MIFTS: 21

Immunodeficiency, Common Variable, 7 (CVID7)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency, Common Variable, 7

MalaCards integrated aliases for Immunodeficiency, Common Variable, 7:

Name: Immunodeficiency, Common Variable, 7 57 72 13 70
Common Variable Immunodeficiency 7 29 6
Cvid7 57 72
Immunodeficiency, Variable, Common, Type 7 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in childhood
one patient has been reported (last curated july 2012)


HPO:

31
immunodeficiency, common variable, 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614699
OMIM Phenotypic Series 57 PS607594
MeSH 44 D017074
UMLS 70 C3542922

Summaries for Immunodeficiency, Common Variable, 7

UniProtKB/Swiss-Prot : 72 Immunodeficiency, common variable, 7: 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, 7, is also known as common variable immunodeficiency 7. An important gene associated with Immunodeficiency, Common Variable, 7 is CR2 (Complement C3d Receptor 2). Affiliated tissues include b cells, and related phenotypes are recurrent respiratory infections and immunodeficiency

More information from OMIM: 614699 PS607594

Related Diseases for Immunodeficiency, Common Variable, 7

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 7

Human phenotypes related to Immunodeficiency, Common Variable, 7:

31
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 immunodeficiency 31 HP:0002721
3 chronic diarrhea 31 HP:0002028
4 decreased circulating iga level 31 HP:0002720

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Immunology:
recurrent infections
hypogammaglobulinemia

Laboratory Abnormalities:
decreased iga
deceased igg
low-normal igm
decreased switched memory b cells
proper antibody response to protein vaccinations

Respiratory:
respiratory infections, recurrent

Abdomen Gastrointestinal:
diarrhea, recurrent

Clinical features from OMIM®:

614699 (Updated 20-May-2021)

Drugs & Therapeutics for Immunodeficiency, Common Variable, 7

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 7

Genetic Tests for Immunodeficiency, Common Variable, 7

Genetic tests related to Immunodeficiency, Common Variable, 7:

# Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 7 29 CR2

Anatomical Context for Immunodeficiency, Common Variable, 7

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 7:

40
B Cells

Publications for Immunodeficiency, Common Variable, 7

Articles related to Immunodeficiency, Common Variable, 7:

# Title Authors PMID Year
1
Genetic CD21 deficiency is associated with hypogammaglobulinemia. 6 57
22035880 2012

Variations for Immunodeficiency, Common Variable, 7

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 7:

6 (show top 50) (show all 242)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CR2 NM_001006658.2(CR2):c.462T>A (p.Cys154Ter) SNV Pathogenic 638326 rs1572952530 GRCh37: 1:207641888-207641888
GRCh38: 1:207468543-207468543
2 CR2 NM_001877.5(CR2):c.2120G>A (p.Trp707Ter) SNV Pathogenic 35453 rs398122863 GRCh37: 1:207647642-207647642
GRCh38: 1:207474297-207474297
3 CR2 NM_001006658.2(CR2):c.3238C>T (p.Arg1080Ter) SNV Conflicting interpretations of pathogenicity 573311 rs185689791 GRCh37: 1:207658858-207658858
GRCh38: 1:207485513-207485513
4 CR2 NM_001006658.3(CR2):c.2903-3C>A SNV Conflicting interpretations of pathogenicity 784591 rs372214909 GRCh37: 1:207651227-207651227
GRCh38: 1:207477882-207477882
5 CR2 NM_001006658.3(CR2):c.658C>T (p.Arg220Ter) SNV Conflicting interpretations of pathogenicity 932909 rs141472681 GRCh37: 1:207642168-207642168
GRCh38: 1:207468823-207468823
6 CR2 NM_001006658.2(CR2):c.1078C>T (p.Arg360Ter) SNV Conflicting interpretations of pathogenicity 650445 rs772481080 GRCh37: 1:207643300-207643300
GRCh38: 1:207469955-207469955
7 CR2 NM_001006658.2(CR2):c.1676G>A (p.Gly559Glu) SNV Conflicting interpretations of pathogenicity 449008 rs143614333 GRCh37: 1:207646222-207646222
GRCh38: 1:207472877-207472877
8 CR2 NM_001006658.3(CR2):c.2516T>C (p.Leu839Ser) SNV Uncertain significance 860488 GRCh37: 1:207648361-207648361
GRCh38: 1:207475016-207475016
9 CR2 NM_001877.5(CR2):c.1210C>G (p.Pro404Ala) SNV Uncertain significance 578201 rs148388565 GRCh37: 1:207643432-207643432
GRCh38: 1:207470087-207470087
10 CR2 NM_001006658.3(CR2):c.2518C>G (p.Arg840Gly) SNV Uncertain significance 957001 GRCh37: 1:207648363-207648363
GRCh38: 1:207475018-207475018
11 CR2 NM_001006658.3(CR2):c.214G>A (p.Asp72Asn) SNV Uncertain significance 992567 GRCh37: 1:207640026-207640026
GRCh38: 1:207466681-207466681
12 CR2 NM_001877.5(CR2):c.599C>T (p.Ser200Leu) SNV Uncertain significance 658089 rs142206860 GRCh37: 1:207642025-207642025
GRCh38: 1:207468680-207468680
13 CR2 NM_001006658.3(CR2):c.2483A>G (p.His828Arg) SNV Uncertain significance 835171 GRCh37: 1:207648328-207648328
GRCh38: 1:207474983-207474983
14 CR2 NM_001006658.3(CR2):c.2111G>A (p.Cys704Tyr) SNV Uncertain significance 842844 GRCh37: 1:207647022-207647022
GRCh38: 1:207473677-207473677
15 CR2 NM_001006658.3(CR2):c.419C>T (p.Pro140Leu) SNV Uncertain significance 807908 rs563764676 GRCh37: 1:207640231-207640231
GRCh38: 1:207466886-207466886
16 CR2 NM_001006658.3(CR2):c.1064A>G (p.Gln355Arg) SNV Uncertain significance 849010 GRCh37: 1:207643286-207643286
GRCh38: 1:207469941-207469941
17 CR2 NM_001006658.3(CR2):c.445+6T>C SNV Uncertain significance 855596 GRCh37: 1:207640263-207640263
GRCh38: 1:207466918-207466918
18 CR2 NM_001006658.3(CR2):c.740G>A (p.Arg247Gln) SNV Uncertain significance 862058 GRCh37: 1:207642500-207642500
GRCh38: 1:207469155-207469155
19 CR2 NM_001006658.3(CR2):c.863T>C (p.Ile288Thr) SNV Uncertain significance 953439 GRCh37: 1:207643085-207643085
GRCh38: 1:207469740-207469740
20 CR2 NM_001006658.3(CR2):c.3097G>C (p.Ala1033Pro) SNV Uncertain significance 955777 GRCh37: 1:207652610-207652610
GRCh38: 1:207479265-207479265
21 CR2 NM_001006658.3(CR2):c.3203A>C (p.Asp1068Ala) SNV Uncertain significance 961095 GRCh37: 1:207658823-207658823
GRCh38: 1:207485478-207485478
22 CR2 NM_001006658.3(CR2):c.2168A>G (p.His723Arg) SNV Uncertain significance 961579 GRCh37: 1:207647158-207647158
GRCh38: 1:207473813-207473813
23 CR2 NM_001006658.3(CR2):c.1511G>A (p.Ser504Asn) SNV Uncertain significance 962849 GRCh37: 1:207644785-207644785
GRCh38: 1:207471440-207471440
24 CR2 NM_001006658.3(CR2):c.74C>G (p.Ser25Cys) SNV Uncertain significance 1051041 GRCh37: 1:207639886-207639886
GRCh38: 1:207466541-207466541
25 CR2 NM_001006658.3(CR2):c.2803A>G (p.Ile935Val) SNV Uncertain significance 1051376 GRCh37: 1:207649665-207649665
GRCh38: 1:207476320-207476320
26 CR2 NM_001006658.3(CR2):c.1129T>C (p.Phe377Leu) SNV Uncertain significance 1053354 GRCh37: 1:207643351-207643351
GRCh38: 1:207470006-207470006
27 CR2 NM_001006658.3(CR2):c.3223T>A (p.Phe1075Ile) SNV Uncertain significance 1053643 GRCh37: 1:207658843-207658843
GRCh38: 1:207485498-207485498
28 CR2 NM_001006658.3(CR2):c.2062T>C (p.Tyr688His) SNV Uncertain significance 1054486 GRCh37: 1:207646973-207646973
GRCh38: 1:207473628-207473628
29 CR2 NM_001006658.3(CR2):c.3111T>G (p.Cys1037Trp) SNV Uncertain significance 1056203 GRCh37: 1:207652624-207652624
GRCh38: 1:207479279-207479279
30 CR2 NM_001006658.3(CR2):c.1837A>G (p.Ile613Val) SNV Uncertain significance 1060493 GRCh37: 1:207646383-207646383
GRCh38: 1:207473038-207473038
31 CR2 NM_001006658.3(CR2):c.2204C>G (p.Ser735Ter) SNV Uncertain significance 1061097 GRCh37: 1:207647194-207647194
GRCh38: 1:207473849-207473849
32 CR2 NM_001006658.3(CR2):c.556G>A (p.Gly186Ser) SNV Uncertain significance 1063953 GRCh37: 1:207641982-207641982
GRCh38: 1:207468637-207468637
33 CR2 NM_001006658.3(CR2):c.1402+6A>G SNV Uncertain significance 967153 GRCh37: 1:207644267-207644267
GRCh38: 1:207470922-207470922
34 CR2 NM_001006658.3(CR2):c.982G>C (p.Asp328His) SNV Uncertain significance 955797 GRCh37: 1:207643204-207643204
GRCh38: 1:207469859-207469859
35 CR2 NM_001006658.3(CR2):c.1079G>A (p.Arg360Gln) SNV Uncertain significance 812044 rs139617666 GRCh37: 1:207643301-207643301
GRCh38: 1:207469956-207469956
36 CR2 NM_001877.5(CR2):c.665C>T (p.Pro222Leu) SNV Uncertain significance 663094 rs371733599 GRCh37: 1:207642175-207642175
GRCh38: 1:207468830-207468830
37 CR2 NM_001006658.3(CR2):c.2045C>G (p.Ser682Cys) SNV Uncertain significance 1047128 GRCh37: 1:207646956-207646956
GRCh38: 1:207473611-207473611
38 CR2 NM_001006658.3(CR2):c.2497G>A (p.Gly833Arg) SNV Uncertain significance 1029997 GRCh37: 1:207648342-207648342
GRCh38: 1:207474997-207474997
39 CR2 NM_001006658.3(CR2):c.2942A>T (p.Gln981Leu) SNV Uncertain significance 1029998 GRCh37: 1:207651269-207651269
GRCh38: 1:207477924-207477924
40 CR2 NM_001006658.3(CR2):c.446-10G>T SNV Uncertain significance 1032520 GRCh37: 1:207641862-207641862
GRCh38: 1:207468517-207468517
41 CR2 NM_001006658.3(CR2):c.752C>T (p.Pro251Leu) SNV Uncertain significance 1033184 GRCh37: 1:207642512-207642512
GRCh38: 1:207469167-207469167
42 CR2 NM_001006658.2(CR2):c.818-4C>T SNV Uncertain significance 636387 rs370106455 GRCh37: 1:207643036-207643036
GRCh38: 1:207469691-207469691
43 CR2 NM_001006658.3(CR2):c.3258T>G (p.Asp1086Glu) SNV Uncertain significance 1035299 GRCh37: 1:207658878-207658878
GRCh38: 1:207485533-207485533
44 CR2 NM_001006658.3(CR2):c.2011C>T (p.Arg671Cys) SNV Uncertain significance 1037260 GRCh37: 1:207646922-207646922
GRCh38: 1:207473577-207473577
45 CR2 NM_001006658.3(CR2):c.1268A>T (p.Asp423Val) SNV Uncertain significance 1038398 GRCh37: 1:207644127-207644127
GRCh38: 1:207470782-207470782
46 CR2 NM_001006658.3(CR2):c.1798G>A (p.Val600Ile) SNV Uncertain significance 1039150 GRCh37: 1:207646344-207646344
GRCh38: 1:207472999-207472999
47 CR2 NM_001006658.3(CR2):c.3244_3245del (p.Val1082fs) Deletion Uncertain significance 1039219 GRCh37: 1:207658864-207658865
GRCh38: 1:207485519-207485520
48 CR2 NM_001006658.3(CR2):c.2608A>G (p.Ile870Val) SNV Uncertain significance 1040869 GRCh37: 1:207648453-207648453
GRCh38: 1:207475108-207475108
49 CR2 NM_001006658.3(CR2):c.1985A>G (p.Gln662Arg) SNV Uncertain significance 1041331 GRCh37: 1:207646896-207646896
GRCh38: 1:207473551-207473551
50 CR2 NM_001006658.3(CR2):c.694C>T (p.Leu232Phe) SNV Uncertain significance 1042017 GRCh37: 1:207642204-207642204
GRCh38: 1:207468859-207468859

Expression for Immunodeficiency, Common Variable, 7

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 7.

Pathways for Immunodeficiency, Common Variable, 7

GO Terms for Immunodeficiency, Common Variable, 7

Sources for Immunodeficiency, Common Variable, 7

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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