CVID13
MCID: IMM134
MIFTS: 20

Immunodeficiency, Common Variable, 13 (CVID13)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency, Common Variable, 13

MalaCards integrated aliases for Immunodeficiency, Common Variable, 13:

Name: Immunodeficiency, Common Variable, 13 58 76 30 6
Cvid13 58 76
Combined Immunodeficiency Due to Ikaros Deficiency 60
Pancytopenia Due to Ikzf1 Mutations 60
Cid Due to Ikaros Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
pancytopenia due to ikzf1 mutations
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
some patients may be clinically asymptomatic
variable age at onset (range infancy to adulthood)


HPO:

33
immunodeficiency, common variable, 13:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 616873
MeSH 45 D017074
ICD10 via Orphanet 35 D81.8
Orphanet 60 ORPHA317473

Summaries for Immunodeficiency, Common Variable, 13

OMIM : 58 Common variable immunodeficiency-13 is an autosomal dominant primary immunodeficiency disorder characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells. The age at onset of clinical features can range from infancy to adulthood, and some patients may have a mild disorder or even remain clinically asymptomatic (summary by Kuehn et al., 2016). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594). (616873)

MalaCards based summary : Immunodeficiency, Common Variable, 13, is also known as cvid13. An important gene associated with Immunodeficiency, Common Variable, 13 is IKZF1 (IKAROS Family Zinc Finger 1). Affiliated tissues include b cells, bone and t cells, and related phenotypes are pancytopenia and immunodeficiency

UniProtKB/Swiss-Prot : 76 Immunodeficiency, common variable, 13: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. CVID13 is an autosomal dominant disease associated with a striking decrease in B-cell numbers.

Related Diseases for Immunodeficiency, Common Variable, 13

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 13

Human phenotypes related to Immunodeficiency, Common Variable, 13:

33
# Description HPO Frequency HPO Source Accession
1 pancytopenia 33 occasional (7.5%) HP:0001876
2 immunodeficiency 33 HP:0002721
3 decreased antibody level in blood 33 HP:0004313
4 recurrent bacterial infections 33 HP:0002718
5 b lymphocytopenia 33 HP:0010976

Symptoms via clinical synopsis from OMIM:

58
Immunology:
hypogammaglobulinemia
decreased numbers of b cells
combined variable immunodeficiency
progressive loss of antibodies
decreased numbers of b-cell precursors seen in bone aspirate
more
Hematology:
thromocytopenia (in some patients)
pancytopenia (1 patient)

Respiratory:
recurrent respiratory tract infections, bacterial

Neoplasia:
b-cell acute lymphoblastic leukemia (in some patients)

Clinical features from OMIM:

616873

Drugs & Therapeutics for Immunodeficiency, Common Variable, 13

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 13

Genetic Tests for Immunodeficiency, Common Variable, 13

Genetic tests related to Immunodeficiency, Common Variable, 13:

# Genetic test Affiliating Genes
1 Immunodeficiency, Common Variable, 13 30 IKZF1

Anatomical Context for Immunodeficiency, Common Variable, 13

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 13:

42
B Cells, Bone, T Cells

Publications for Immunodeficiency, Common Variable, 13

Variations for Immunodeficiency, Common Variable, 13

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency, Common Variable, 13:

76
# Symbol AA change Variation ID SNP ID
1 IKZF1 p.Arg162Leu VAR_076401 rs770551610
2 IKZF1 p.Arg162Gln VAR_076402 rs770551610
3 IKZF1 p.His167Arg VAR_076403 rs869312884
4 IKZF1 p.Arg184Gln VAR_076404 rs869312885
5 IKZF1 p.Tyr210Cys VAR_076405 rs869312883

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 13:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 IKZF1 NM_006060.5(IKZF1): c.629A> G (p.Tyr210Cys) single nucleotide variant Pathogenic rs869312883 GRCh37 Chromosome 7, 50455082: 50455082
2 IKZF1 NM_006060.5(IKZF1): c.629A> G (p.Tyr210Cys) single nucleotide variant Pathogenic rs869312883 GRCh38 Chromosome 7, 50387384: 50387384
3 IKZF1 NM_006060.5(IKZF1): c.485G> T (p.Arg162Leu) single nucleotide variant Pathogenic rs770551610 GRCh38 Chromosome 7, 50382603: 50382603
4 IKZF1 NM_006060.5(IKZF1): c.485G> T (p.Arg162Leu) single nucleotide variant Pathogenic rs770551610 GRCh37 Chromosome 7, 50450301: 50450301
5 IKZF1 NM_006060.5(IKZF1): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic rs770551610 GRCh38 Chromosome 7, 50382603: 50382603
6 IKZF1 NM_006060.5(IKZF1): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic rs770551610 GRCh37 Chromosome 7, 50450301: 50450301
7 IKZF1 NM_006060.5(IKZF1): c.500A> G (p.His167Arg) single nucleotide variant Pathogenic rs869312884 GRCh38 Chromosome 7, 50382618: 50382618
8 IKZF1 NM_006060.5(IKZF1): c.500A> G (p.His167Arg) single nucleotide variant Pathogenic rs869312884 GRCh37 Chromosome 7, 50450316: 50450316
9 IKZF1 NM_006060.5(IKZF1): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs869312885 GRCh37 Chromosome 7, 50450367: 50450367
10 IKZF1 NM_006060.5(IKZF1): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs869312885 GRCh38 Chromosome 7, 50382669: 50382669
11 IKZF1 NM_006060.5(IKZF1): c.161-8388_589+2308del deletion Pathogenic GRCh38 Chromosome 7, 50368145: 50385015
12 IKZF1 NM_006060.5(IKZF1): c.161-8388_589+2308del deletion Pathogenic GRCh37 Chromosome 7, 50435843: 50452713
13 IKZF1 NM_006060.5(IKZF1): c.584A> G (p.His195Arg) single nucleotide variant Pathogenic rs1131690788 GRCh38 Chromosome 7, 50382702: 50382702
14 IKZF1 NM_006060.5(IKZF1): c.584A> G (p.His195Arg) single nucleotide variant Pathogenic rs1131690788 GRCh37 Chromosome 7, 50450400: 50450400
15 IKZF1 NM_006060.6(IKZF1): c.814G> A (p.Ala272Thr) single nucleotide variant Likely pathogenic rs778820674 GRCh38 Chromosome 7, 50391827: 50391827
16 IKZF1 NM_006060.6(IKZF1): c.814G> A (p.Ala272Thr) single nucleotide variant Likely pathogenic rs778820674 GRCh37 Chromosome 7, 50459525: 50459525
17 IKZF1 NM_006060.6(IKZF1): c.64G> A (p.Asp22Asn) single nucleotide variant Likely pathogenic rs1245618829 GRCh38 Chromosome 7, 50327661: 50327661
18 IKZF1 NM_006060.6(IKZF1): c.64G> A (p.Asp22Asn) single nucleotide variant Likely pathogenic rs1245618829 GRCh37 Chromosome 7, 50367257: 50367257

Expression for Immunodeficiency, Common Variable, 13

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 13.

Pathways for Immunodeficiency, Common Variable, 13

GO Terms for Immunodeficiency, Common Variable, 13

Sources for Immunodeficiency, Common Variable, 13

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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