CVID4
MCID: IMM035
MIFTS: 18

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 58 76 13 74
Antibody Deficiency Due to Baffr Defect 58 76
Common Variable Immunodeficiency 4 30 6
Cvid4 58 76
Immunodeficiency, Variable, Common, Type 4 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
adult onset
patients may have benign course until late adulthood


HPO:

33
immunodeficiency, common variable, 4:
Onset and clinical course adult onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Immunodeficiency, Common Variable, 4

UniProtKB/Swiss-Prot : 76 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

Description from OMIM: 613494

Related Diseases for Immunodeficiency, Common Variable, 4

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 4

Human phenotypes related to Immunodeficiency, Common Variable, 4:

33
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 33 HP:0002721
2 recurrent pneumonia 33 HP:0006532
3 recurrent bacterial infections 33 HP:0002718
4 decreased circulating igg level 33 HP:0004315
5 recurrent sinusitis 33 HP:0011108

Symptoms via clinical synopsis from OMIM:

58
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

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 30 TNFRSF13C

Anatomical Context for Immunodeficiency, Common Variable, 4

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

42
B Cells, T Cells

Publications for Immunodeficiency, Common Variable, 4

Articles related to Immunodeficiency, Common Variable, 4:

# Title Authors Year
1
B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. ( 19666484 )
2009

Variations for Immunodeficiency, Common Variable, 4

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

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNFRSF13C TNFRSF13C, 24-BP DEL, NT89 deletion Pathogenic
2 TNFRSF13C NM_052945.3(TNFRSF13C): c.317G> A (p.Arg106Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150374940 GRCh38 Chromosome 22, 41926151: 41926151
3 TNFRSF13C NM_052945.3(TNFRSF13C): c.317G> A (p.Arg106Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150374940 GRCh37 Chromosome 22, 42322155: 42322155
4 TNFRSF13C NM_052945.3(TNFRSF13C): c.62C> G (p.Pro21Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77874543 GRCh38 Chromosome 22, 41926712: 41926712
5 TNFRSF13C NM_052945.3(TNFRSF13C): c.62C> G (p.Pro21Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77874543 GRCh37 Chromosome 22, 42322716: 42322716
6 TNFRSF13C NM_052945.3(TNFRSF13C): c.60C> T (p.Val20=) single nucleotide variant Benign/Likely benign rs373828157 GRCh37 Chromosome 22, 42322718: 42322718
7 TNFRSF13C NM_052945.3(TNFRSF13C): c.60C> T (p.Val20=) single nucleotide variant Benign/Likely benign rs373828157 GRCh38 Chromosome 22, 41926714: 41926714
8 TNFRSF13C NM_052945.3(TNFRSF13C): c.475C> T (p.His159Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs61756766 GRCh37 Chromosome 22, 42321451: 42321451
9 TNFRSF13C NM_052945.3(TNFRSF13C): c.475C> T (p.His159Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs61756766 GRCh38 Chromosome 22, 41925447: 41925447
10 TNFRSF13C NM_052945.3(TNFRSF13C): c.264A> G (p.Ala88=) single nucleotide variant Likely benign rs778024793 GRCh37 Chromosome 22, 42322208: 42322208
11 TNFRSF13C NM_052945.3(TNFRSF13C): c.264A> G (p.Ala88=) single nucleotide variant Likely benign rs778024793 GRCh38 Chromosome 22, 41926204: 41926204
12 TNFRSF13C NM_052945.3(TNFRSF13C): c.191_192delGCinsTT (p.Gly64Val) indel Benign rs1556157858 GRCh37 Chromosome 22, 42322280: 42322281
13 TNFRSF13C NM_052945.3(TNFRSF13C): c.191_192delGCinsTT (p.Gly64Val) indel Benign rs1556157858 GRCh38 Chromosome 22, 41926276: 41926277
14 TNFRSF13C NM_052945.3(TNFRSF13C): c.181G> A (p.Glu61Lys) single nucleotide variant Uncertain significance rs1052712048 GRCh37 Chromosome 22, 42322291: 42322291
15 TNFRSF13C NM_052945.3(TNFRSF13C): c.181G> A (p.Glu61Lys) single nucleotide variant Uncertain significance rs1052712048 GRCh38 Chromosome 22, 41926287: 41926287
16 TNFRSF13C NM_052945.3(TNFRSF13C): c.122C> T (p.Pro41Leu) single nucleotide variant Uncertain significance rs1556159000 GRCh38 Chromosome 22, 41926652: 41926652
17 TNFRSF13C NM_052945.3(TNFRSF13C): c.122C> T (p.Pro41Leu) single nucleotide variant Uncertain significance rs1556159000 GRCh37 Chromosome 22, 42322656: 42322656
18 TNFRSF13C NM_052945.3(TNFRSF13C): c.229C> T (p.Leu77=) single nucleotide variant Benign rs140820836 GRCh38 Chromosome 22, 41926239: 41926239
19 TNFRSF13C NM_052945.3(TNFRSF13C): c.229C> T (p.Leu77=) single nucleotide variant Benign rs140820836 GRCh37 Chromosome 22, 42322243: 42322243
20 TNFRSF13C NM_052945.3(TNFRSF13C): c.137-7delG deletion Likely benign rs1299671576 GRCh37 Chromosome 22, 42322342: 42322342
21 TNFRSF13C NM_052945.3(TNFRSF13C): c.137-7delG deletion Likely benign rs1299671576 GRCh38 Chromosome 22, 41926338: 41926338
22 covers 28 genes, none of which curated to show dosage sensitivity NC_000022.11: g.(?_41301335)_(42070317_?)del deletion Uncertain significance GRCh38 Chromosome 22, 41301335: 42070317
23 covers 28 genes, none of which curated to show dosage sensitivity NC_000022.11: g.(?_41301335)_(42070317_?)del deletion Uncertain significance GRCh37 Chromosome 22, 41697339: 42466321
24 TNFRSF13C NM_052945.3(TNFRSF13C): c.282C> T (p.Val94=) single nucleotide variant Benign rs190252814 GRCh37 Chromosome 22, 42322190: 42322190
25 TNFRSF13C NM_052945.3(TNFRSF13C): c.282C> T (p.Val94=) single nucleotide variant Benign rs190252814 GRCh38 Chromosome 22, 41926186: 41926186
26 TNFRSF13C NM_052945.3(TNFRSF13C): c.367+10G> T single nucleotide variant Likely benign rs1052448266 GRCh38 Chromosome 22, 41926091: 41926091
27 TNFRSF13C NM_052945.3(TNFRSF13C): c.367+10G> T single nucleotide variant Likely benign rs1052448266 GRCh37 Chromosome 22, 42322095: 42322095
28 TNFRSF13C NM_052945.3(TNFRSF13C): c.213G> A (p.Ala71=) single nucleotide variant Likely benign rs767759337 GRCh38 Chromosome 22, 41926255: 41926255
29 TNFRSF13C NM_052945.3(TNFRSF13C): c.213G> A (p.Ala71=) single nucleotide variant Likely benign rs767759337 GRCh37 Chromosome 22, 42322259: 42322259
30 TNFRSF13C NM_052945.3(TNFRSF13C): c.132A> G (p.Lys44=) single nucleotide variant Likely benign rs920471641 GRCh38 Chromosome 22, 41926642: 41926642
31 TNFRSF13C NM_052945.3(TNFRSF13C): c.132A> G (p.Lys44=) single nucleotide variant Likely benign rs920471641 GRCh37 Chromosome 22, 42322646: 42322646
32 TNFRSF13C NM_052945.3(TNFRSF13C): c.478A> G (p.Ser160Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 41925444: 41925444
33 TNFRSF13C NM_052945.3(TNFRSF13C): c.478A> G (p.Ser160Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 42321448: 42321448

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

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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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