CVID12
MCID: IMM119
MIFTS: 19

Immunodeficiency, Common Variable, 12 (CVID12)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency, Common Variable, 12

MalaCards integrated aliases for Immunodeficiency, Common Variable, 12:

Name: Immunodeficiency, Common Variable, 12 58 76 30 6
Nfkb1 Deficiency 58 76
Cvid12 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
variable age at onset (range childhood to adult)


HPO:

33
immunodeficiency, common variable, 12:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Immunodeficiency, Common Variable, 12

OMIM : 58 Common variable immunodeficiency-12 is an autosomal dominant primary immunodeficiency characterized by recurrent infections, mainly respiratory, associated with hypogammaglobulinemia. The disorder shows a highly variable age at onset and highly variable disease severity, even within the same family. Some patients have features of autoimmunity (summary by Fliegauf et al., 2015). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594). (616576)

MalaCards based summary : Immunodeficiency, Common Variable, 12, is also known as nfkb1 deficiency. An important gene associated with Immunodeficiency, Common Variable, 12 is NFKB1 (Nuclear Factor Kappa B Subunit 1). Affiliated tissues include skin, t cells and b cells, and related phenotypes are hemolytic anemia and alopecia

UniProtKB/Swiss-Prot : 76 Immunodeficiency, common variable, 12: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen.

Related Diseases for Immunodeficiency, Common Variable, 12

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 12

Human phenotypes related to Immunodeficiency, Common Variable, 12:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 33 occasional (7.5%) HP:0001878
2 alopecia 33 occasional (7.5%) HP:0001596
3 thrombocytopenia 33 occasional (7.5%) HP:0001873
4 immunodeficiency 33 HP:0002721
5 decreased antibody level in blood 33 HP:0004313
6 chronic obstructive pulmonary disease 33 HP:0006510
7 recurrent skin infections 33 HP:0001581
8 recurrent sinopulmonary infections 33 HP:0005425

Symptoms via clinical synopsis from OMIM:

58
Immunology:
immunodeficiency
recurrent infections
thrombocytopenia (in some patients)
hypogammaglobulinemia
hemolytic anemia (in some patients)
more
Skin Nails Hair Skin:
recurrent skin infections

Respiratory:
chronic obstructive pulmonary disease
recurrent sinopulmonary infections

Skin Nails Hair Hair:
alopecia (in some patients)

Clinical features from OMIM:

616576

Drugs & Therapeutics for Immunodeficiency, Common Variable, 12

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 12

Genetic Tests for Immunodeficiency, Common Variable, 12

Genetic tests related to Immunodeficiency, Common Variable, 12:

# Genetic test Affiliating Genes
1 Immunodeficiency, Common Variable, 12 30 NFKB1

Anatomical Context for Immunodeficiency, Common Variable, 12

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 12:

42
Skin, T Cells, B Cells

Publications for Immunodeficiency, Common Variable, 12

Articles related to Immunodeficiency, Common Variable, 12:

# Title Authors Year
1
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. ( 26279205 )
2015
2
Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q. ( 16639407 )
2006
3
Common variable immunodeficiency (CVID) in a family: an autosomal dominant mode of inheritance. ( 11583829 )
2001

Variations for Immunodeficiency, Common Variable, 12

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 12:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 NFKB1 NM_003998.3(NFKB1): c.730+4A> G single nucleotide variant Pathogenic rs869320688 GRCh37 Chromosome 4, 103500200: 103500200
2 NFKB1 NM_003998.3(NFKB1): c.730+4A> G single nucleotide variant Pathogenic rs869320688 GRCh38 Chromosome 4, 102579043: 102579043
3 NFKB1 NM_003998.3(NFKB1): c.835+2T> G single nucleotide variant Pathogenic rs869320689 GRCh37 Chromosome 4, 103501798: 103501798
4 NFKB1 NM_003998.3(NFKB1): c.835+2T> G single nucleotide variant Pathogenic rs869320689 GRCh38 Chromosome 4, 102580641: 102580641
5 NFKB1 NM_003998.3(NFKB1): c.465dupA (p.Ala156Serfs) duplication Pathogenic rs869320754 GRCh38 Chromosome 4, 102576933: 102576933
6 NFKB1 NM_003998.3(NFKB1): c.465dupA (p.Ala156Serfs) duplication Pathogenic rs869320754 GRCh37 Chromosome 4, 103498090: 103498090
7 NFKB1 NM_003998.3(NFKB1): c.904dup (p.Ser302Phefs) duplication Pathogenic rs773694113 GRCh37 Chromosome 4, 103504091: 103504091
8 NFKB1 NM_003998.3(NFKB1): c.904dup (p.Ser302Phefs) duplication Pathogenic rs773694113 GRCh38 Chromosome 4, 102582934: 102582934
9 NFKB1 NM_003998.4(NFKB1): c.317dup (p.Asn106Lysfs) duplication Likely pathogenic GRCh38 Chromosome 4, 102567045: 102567045
10 NFKB1 NM_003998.4(NFKB1): c.317dup (p.Asn106Lysfs) duplication Likely pathogenic GRCh37 Chromosome 4, 103488202: 103488203
11 NFKB1 NM_003998.4(NFKB1): c.1752+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 4, 102601010: 102601010
12 NFKB1 NM_003998.4(NFKB1): c.1752+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 4, 103522167: 103522167

Expression for Immunodeficiency, Common Variable, 12

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 12.

Pathways for Immunodeficiency, Common Variable, 12

GO Terms for Immunodeficiency, Common Variable, 12

Sources for Immunodeficiency, Common Variable, 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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