MCID: IMM134
MIFTS: 20

Immunodeficiency, Common Variable, 13

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

Aliases & Classifications for Immunodeficiency, Common Variable, 13

MalaCards integrated aliases for Immunodeficiency, Common Variable, 13:

Name: Immunodeficiency, Common Variable, 13 57 75 29 6
Cvid13 57 75
Combined Immunodeficiency Due to Ikaros Deficiency 59
Pancytopenia Due to Ikzf1 Mutations 59
Cid Due to Ikaros Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
pancytopenia due to ikzf1 mutations
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
immunodeficiency, common variable, 13:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 616873
Orphanet 59 ORPHA317473
ICD10 via Orphanet 34 D81.8
MeSH 44 D017074

Summaries for Immunodeficiency, Common Variable, 13

OMIM : 57 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, t cells and bone, and related phenotypes are pancytopenia and recurrent bacterial infections

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
recurrent respiratory tract infections, bacterial

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

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


Clinical features from OMIM:

616873

Human phenotypes related to Immunodeficiency, Common Variable, 13:

32
# Description HPO Frequency HPO Source Accession
1 pancytopenia 32 occasional (7.5%) HP:0001876
2 recurrent bacterial infections 32 HP:0002718
3 decreased antibody level in blood 32 HP:0004313
4 b lymphocytopenia 32 HP:0010976

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 29 IKZF1

Anatomical Context for Immunodeficiency, Common Variable, 13

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

41
B Cells, T Cells, Bone

Publications for Immunodeficiency, Common Variable, 13

Variations for Immunodeficiency, Common Variable, 13

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

75
# 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 13)
# 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.584A> G (p.His195Arg) single nucleotide variant Pathogenic rs1131690788 GRCh38 Chromosome 7, 50382702: 50382702
13 IKZF1 NM_006060.5(IKZF1): c.584A> G (p.His195Arg) single nucleotide variant Pathogenic rs1131690788 GRCh37 Chromosome 7, 50450400: 50450400

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

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
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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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