CVID4
MCID: IMM035
MIFTS: 23

Immunodeficiency, Common Variable, 4 (CVID4)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency, Common Variable, 4

MalaCards integrated aliases for Immunodeficiency, Common Variable, 4:

Name: Immunodeficiency, Common Variable, 4 57 72 13 70
Antibody Deficiency Due to Baffr Defect 57 72
Common Variable Immunodeficiency 4 29 6
Cvid4 57 72
Immunodeficiency, Variable, Common, Type 4 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
adult onset
variable phenotype
patients may have benign course until late adulthood

Inheritance:
autosomal recessive


HPO:

31
immunodeficiency, common variable, 4:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM® 57 613494
OMIM Phenotypic Series 57 PS607594
MeSH 44 D017074
MedGen 41 C3150739
UMLS 70 C3150739

Summaries for Immunodeficiency, Common Variable, 4

UniProtKB/Swiss-Prot : 72 Immunodeficiency, common variable, 4: 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, 4, is also known as antibody deficiency due to baffr defect. An important gene associated with Immunodeficiency, Common Variable, 4 is TNFRSF13C (TNF Receptor Superfamily Member 13C). Affiliated tissues include b cells and t cells, and related phenotypes are immunodeficiency and recurrent pneumonia

More information from OMIM: 613494 PS607594

Related Diseases for Immunodeficiency, Common Variable, 4

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 4

Human phenotypes related to Immunodeficiency, Common Variable, 4:

31
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 recurrent pneumonia 31 HP:0006532
3 decreased circulating igg level 31 HP:0004315
4 recurrent bacterial infections 31 HP:0002718
5 recurrent sinusitis 31 HP:0011108

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Immunology:
recurrent bacterial infections
hypogammaglobulinemia
defective antibody production
normal numbers of t cells
decreased numbers of mature b cells
more
Respiratory Lung:
pneumonia, recurrent

Head And Neck Head:
sinusitis, recurrent

Laboratory Abnormalities:
decreased serum igg
decreased serum igm
normal serum and mucosal iga

Clinical features from OMIM®:

613494 (Updated 20-May-2021)

Drugs & Therapeutics for Immunodeficiency, Common Variable, 4

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 4

Genetic Tests for Immunodeficiency, Common Variable, 4

Genetic tests related to Immunodeficiency, Common Variable, 4:

# Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 4 29 TNFRSF13C

Anatomical Context for Immunodeficiency, Common Variable, 4

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 4:

40
B Cells, T Cells

Publications for Immunodeficiency, Common Variable, 4

Articles related to Immunodeficiency, Common Variable, 4:

# Title Authors PMID Year
1
B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. 57 6
19666484 2009
2
Primary antibody deficiencies at Queen Rania Children Hospital in Jordan: single center experience. 61
24632588 2014
3
Pulmonary abnormalities in patients with primary hypogammaglobulinemia. 61
10550749 1999
4
[Immunologic laboratory findings in relatives of patients with common variable immunodeficiency]. 61
8472288 1993

Variations for Immunodeficiency, Common Variable, 4

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 4:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNFRSF13C NM_052945.3(TNFRSF13C):c.62C>G (p.Pro21Arg) SNV Benign/Likely benign, risk factor 341883 rs77874543 GRCh37: 22:42322716-42322716
GRCh38: 22:41926712-41926712
2 TNFRSF13C TNFRSF13C, 24-BP DEL, NT89 Deletion Pathogenic 4459 GRCh37:
GRCh38:
3 TNFRSF13C NM_052945.3(TNFRSF13C):c.213G>A (p.Ala71=) SNV Conflicting interpretations of pathogenicity 538823 rs767759337 GRCh37: 22:42322259-42322259
GRCh38: 22:41926255-41926255
4 TNFRSF13C NM_052945.3(TNFRSF13C):c.475C>T (p.His159Tyr) SNV Conflicting interpretations of pathogenicity 440345 rs61756766 GRCh37: 22:42321451-42321451
GRCh38: 22:41925447-41925447
5 TNFRSF13C NM_052945.3(TNFRSF13C):c.191G>T (p.Gly64Val) SNV Conflicting interpretations of pathogenicity 440343 rs547352394 GRCh37: 22:42322281-42322281
GRCh38: 22:41926277-41926277
6 TNFRSF13C NM_052945.3(TNFRSF13C):c.317G>A (p.Arg106Gln) SNV Conflicting interpretations of pathogenicity 341877 rs150374940 GRCh37: 22:42322155-42322155
GRCh38: 22:41926151-41926151
7 TNFRSF13C NM_052945.3(TNFRSF13C):c.60C>T (p.Val20=) SNV Conflicting interpretations of pathogenicity 440344 rs373828157 GRCh37: 22:42322718-42322718
GRCh38: 22:41926714-41926714
8 TNFRSF13C NM_052945.3(TNFRSF13C):c.375G>A (p.Glu125=) SNV Conflicting interpretations of pathogenicity 728274 rs371805226 GRCh37: 22:42321551-42321551
GRCh38: 22:41925547-41925547
9 TNFRSF13C NM_052945.3(TNFRSF13C):c.436C>T (p.Pro146Ser) SNV Conflicting interpretations of pathogenicity 717071 rs151243201 GRCh37: 22:42321490-42321490
GRCh38: 22:41925486-41925486
10 TNFRSF13C NM_052945.3(TNFRSF13C):c.246C>T (p.Pro82=) SNV Conflicting interpretations of pathogenicity 785729 rs779365266 GRCh37: 22:42322226-42322226
GRCh38: 22:41926222-41926222
11 TNFRSF13C NM_052945.3(TNFRSF13C):c.255G>C (p.Leu85=) SNV Uncertain significance 341879 rs544076556 GRCh37: 22:42322217-42322217
GRCh38: 22:41926213-41926213
12 TNFRSF13C NM_052945.3(TNFRSF13C):c.534_543delinsAATAGCAGG (p.Ala179fs) Indel Uncertain significance 660119 rs1602373048 GRCh37: 22:42321383-42321392
GRCh38: 22:41925379-41925388
13 TNFRSF13C NM_052945.4(TNFRSF13C):c.311_322del (p.Arg104_Arg107del) Deletion Uncertain significance 848146 GRCh37: 22:42322150-42322161
GRCh38: 22:41926146-41926157
14 TNFRSF13C NM_052945.4(TNFRSF13C):c.190G>A (p.Gly64Ser) SNV Uncertain significance 857768 GRCh37: 22:42322282-42322282
GRCh38: 22:41926278-41926278
15 TNFRSF13C NM_052945.4(TNFRSF13C):c.264_275dup (p.88ALVL[3]) Duplication Uncertain significance 1009610 GRCh37: 22:42322196-42322197
GRCh38: 22:41926192-41926193
16 TNFRSF13C NM_052945.3(TNFRSF13C):c.325C>T (p.Arg109Cys) SNV Uncertain significance 657280 rs776189874 GRCh37: 22:42322147-42322147
GRCh38: 22:41926143-41926143
17 TNFRSF13C NM_052945.4(TNFRSF13C):c.37G>T (p.Ala13Ser) SNV Uncertain significance 950419 GRCh37: 22:42322741-42322741
GRCh38: 22:41926737-41926737
18 TNFRSF13C NM_052945.4(TNFRSF13C):c.89G>A (p.Arg30His) SNV Uncertain significance 1018789 GRCh37: 22:42322689-42322689
GRCh38: 22:41926685-41926685
19 TNFRSF13C NM_052945.4(TNFRSF13C):c.275_286del (p.88ALVL[1]) Deletion Uncertain significance 1036144 GRCh37: 22:42322186-42322197
GRCh38: 22:41926182-41926193
20 TNFRSF13C NM_052945.3(TNFRSF13C):c.478A>G (p.Ser160Gly) SNV Uncertain significance 575709 rs1569421592 GRCh37: 22:42321448-42321448
GRCh38: 22:41925444-41925444
21 TNFRSF13C NM_052945.4(TNFRSF13C):c.199G>A (p.Ala67Thr) SNV Uncertain significance 835705 GRCh37: 22:42322273-42322273
GRCh38: 22:41926269-41926269
22 TNFRSF13C NM_052945.4(TNFRSF13C):c.278T>C (p.Leu93Pro) SNV Uncertain significance 843432 GRCh37: 22:42322194-42322194
GRCh38: 22:41926190-41926190
23 TNFRSF13C NM_052945.4(TNFRSF13C):c.257_268del (p.Gly86_Leu89del) Deletion Uncertain significance 951210 GRCh37: 22:42322204-42322215
GRCh38: 22:41926200-41926211
24 TNFRSF13C NM_052945.4(TNFRSF13C):c.224C>A (p.Pro75His) SNV Uncertain significance 1053269 GRCh37: 22:42322248-42322248
GRCh38: 22:41926244-41926244
25 TNFRSF13C NM_052945.4(TNFRSF13C):c.264_265insATGGTCCTGGCG (p.Leu89_Val90insMetValLeuAla) Insertion Uncertain significance 1059823 GRCh37: 22:42322207-42322208
GRCh38: 22:41926203-41926204
26 TNFRSF13C NM_052945.4(TNFRSF13C):c.11G>A (p.Gly4Glu) SNV Uncertain significance 1060107 GRCh37: 22:42322767-42322767
GRCh38: 22:41926763-41926763
27 TNFRSF13C NM_052945.4(TNFRSF13C):c.226G>T (p.Gly76Trp) SNV Uncertain significance 1061017 GRCh37: 22:42322246-42322246
GRCh38: 22:41926242-41926242
28 TNFRSF13C NM_052945.4(TNFRSF13C):c.538G>A (p.Gly180Ser) SNV Uncertain significance 1063719 GRCh37: 22:42321388-42321388
GRCh38: 22:41925384-41925384
29 overlap with 30 genes NC_000022.11:g.(?_41301335)_(42070317_?)del Deletion Uncertain significance 538825 GRCh37: 22:41697339-42466321
GRCh38: 22:41301335-42070317
30 TNFRSF13C NC_000022.11:g.(?_41925347)_(41926793_?)dup Duplication Uncertain significance 831372 GRCh37: 22:42321351-42322797
GRCh38:
31 TNFRSF13C NM_052945.3(TNFRSF13C):c.173A>T (p.Gln58Leu) SNV Uncertain significance 647889 rs1602373983 GRCh37: 22:42322299-42322299
GRCh38: 22:41926295-41926295
32 TNFRSF13C NM_052945.3(TNFRSF13C):c.485C>T (p.Pro162Leu) SNV Uncertain significance 659163 rs1602373110 GRCh37: 22:42321441-42321441
GRCh38: 22:41925437-41925437
33 TNFRSF13C NM_052945.4(TNFRSF13C):c.368-15C>A SNV Uncertain significance 900261 GRCh37: 22:42321573-42321573
GRCh38: 22:41925569-41925569
34 TNFRSF13C NM_052945.4(TNFRSF13C):c.344A>T (p.Glu115Val) SNV Uncertain significance 900262 GRCh37: 22:42322128-42322128
GRCh38: 22:41926124-41926124
35 TNFRSF13C NM_052945.4(TNFRSF13C):c.307C>A (p.Arg103=) SNV Uncertain significance 900263 GRCh37: 22:42322165-42322165
GRCh38: 22:41926161-41926161
36 TNFRSF13C NM_052945.4(TNFRSF13C):c.*253C>T SNV Uncertain significance 902821 GRCh37: 22:42321118-42321118
GRCh38: 22:41925114-41925114
37 TNFRSF13C NM_052945.4(TNFRSF13C):c.*107G>C SNV Uncertain significance 902822 GRCh37: 22:42321264-42321264
GRCh38: 22:41925260-41925260
38 TNFRSF13C NM_052945.3(TNFRSF13C):c.122C>T (p.Pro41Leu) SNV Uncertain significance 487212 rs1556159000 GRCh37: 22:42322656-42322656
GRCh38: 22:41926652-41926652
39 TNFRSF13C NM_052945.3(TNFRSF13C):c.181G>A (p.Glu61Lys) SNV Uncertain significance 487213 rs1052712048 GRCh37: 22:42322291-42322291
GRCh38: 22:41926287-41926287
40 TNFRSF13C NM_052945.3(TNFRSF13C):c.288G>A (p.Val96=) SNV Uncertain significance 341878 rs755167957 GRCh37: 22:42322184-42322184
GRCh38: 22:41926180-41926180
41 TNFRSF13C NM_052945.3(TNFRSF13C):c.*113G>A SNV Uncertain significance 341875 rs550105406 GRCh37: 22:42321258-42321258
GRCh38: 22:41925254-41925254
42 TNFRSF13C NM_052945.3(TNFRSF13C):c.-10C>A SNV Uncertain significance 341884 rs886057591 GRCh37: 22:42322787-42322787
GRCh38: 22:41926783-41926783
43 TNFRSF13C NM_052945.3(TNFRSF13C):c.347C>T (p.Ala116Val) SNV Uncertain significance 341876 rs886057588 GRCh37: 22:42322125-42322125
GRCh38: 22:41926121-41926121
44 TNFRSF13C NM_052945.3(TNFRSF13C):c.165G>A (p.Thr55=) SNV Uncertain significance 341882 rs886057590 GRCh37: 22:42322307-42322307
GRCh38: 22:41926303-41926303
45 TNFRSF13C NM_052945.3(TNFRSF13C):c.264A>G (p.Ala88=) SNV Likely benign 471474 rs778024793 GRCh37: 22:42322208-42322208
GRCh38: 22:41926204-41926204
46 TNFRSF13C NM_052945.3(TNFRSF13C):c.367+10G>T SNV Likely benign 538822 rs1052448266 GRCh37: 22:42322095-42322095
GRCh38: 22:41926091-41926091
47 TNFRSF13C NM_052945.4(TNFRSF13C):c.368-13C>G SNV Likely benign 902823 GRCh37: 22:42321571-42321571
GRCh38: 22:41925567-41925567
48 TNFRSF13C NM_052945.3(TNFRSF13C):c.405G>A (p.Pro135=) SNV Likely benign 739123 rs140406834 GRCh37: 22:42321521-42321521
GRCh38: 22:41925517-41925517
49 TNFRSF13C NM_052945.3(TNFRSF13C):c.132A>G (p.Lys44=) SNV Likely benign 538824 rs920471641 GRCh37: 22:42322646-42322646
GRCh38: 22:41926642-41926642
50 TNFRSF13C NM_052945.3(TNFRSF13C):c.102C>T (p.Ala34=) SNV Likely benign 786787 rs567541615 GRCh37: 22:42322676-42322676
GRCh38: 22:41926672-41926672

Expression for Immunodeficiency, Common Variable, 4

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 4.

Pathways for Immunodeficiency, Common Variable, 4

GO Terms for Immunodeficiency, Common Variable, 4

Sources for Immunodeficiency, Common Variable, 4

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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