MCID: IMM119
MIFTS: 18

Immunodeficiency, Common Variable, 12

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 57 75 29 6
Nfkb1 Deficiency 57 75
Cvid12 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
immunodeficiency, common variable, 12:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Immunodeficiency, Common Variable, 12

OMIM : 57 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 immunodeficiency and hemolytic anemia

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Immunodeficiency, Common Variable, 12:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 hemolytic anemia 32 occasional (7.5%) HP:0001878
3 alopecia 32 occasional (7.5%) HP:0001596
4 thrombocytopenia 32 occasional (7.5%) HP:0001873
5 decreased antibody level in blood 32 HP:0004313
6 chronic obstructive pulmonary disease 32 HP:0006510
7 recurrent skin infections 32 HP:0001581
8 recurrent sinopulmonary infections 32 HP:0005425

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 29 NFKB1

Anatomical Context for Immunodeficiency, Common Variable, 12

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

41
Skin, T Cells, B Cells

Publications for Immunodeficiency, Common Variable, 12

Variations for Immunodeficiency, Common Variable, 12

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

6
# 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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