CVID13
MCID: IMM134
MIFTS: 25

Immunodeficiency, Common Variable, 13 (CVID13)

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

Aliases & Classifications for Immunodeficiency, Common Variable, 13

MalaCards integrated aliases for Immunodeficiency, Common Variable, 13:

Name: Immunodeficiency, Common Variable, 13 57 72 29 6
Cvid13 57 72
Combined Immunodeficiency Due to Ikaros Deficiency 58
Pancytopenia Due to Ikzf1 Mutations 58
Cid Due to Ikaros Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
pancytopenia due to ikzf1 mutations
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
some patients may be clinically asymptomatic
variable age at onset (range infancy to adulthood)

Inheritance:
autosomal dominant


HPO:

31
immunodeficiency, common variable, 13:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 616873
OMIM Phenotypic Series 57 PS607594
MeSH 44 D017074
ICD10 via Orphanet 33 D81.8
Orphanet 58 ORPHA317473

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) (Updated 20-May-2021)

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 immunodeficiency

UniProtKB/Swiss-Prot : 72 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:

31
# Description HPO Frequency HPO Source Accession
1 pancytopenia 31 occasional (7.5%) HP:0001876
2 immunodeficiency 31 HP:0002721
3 recurrent bacterial infections 31 HP:0002718
4 b lymphocytopenia 31 HP:0010976
5 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
B Cells, T Cells, Bone

Publications for Immunodeficiency, Common Variable, 13

Articles related to Immunodeficiency, Common Variable, 13:

# Title Authors PMID Year
1
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS. 6 57
26981933 2016
2
Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the Ikaros gene. 6 57
21548011 2012
3
IKZF1 Loss-of-Function Variant Causes Autoimmunity and Severe Familial Antiphospholipid Syndrome. 6
31089937 2019
4
Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency. 6
31057532 2019
5
A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects. 6
28927821 2018
6
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations. 6
27939403 2017
7
The Ikaros gene is required for the development of all lymphoid lineages. 57
7923373 1994

Variations for Immunodeficiency, Common Variable, 13

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

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IKZF1 NM_006060.5(IKZF1):c.161-8388_589+2308del Deletion Pathogenic 224782 GRCh37: 7:50435843-50452713
GRCh38: 7:50368145-50385015
2 IKZF1 NM_006060.6(IKZF1):c.485G>A (p.Arg162Gln) SNV Pathogenic 224779 rs770551610 GRCh37: 7:50450301-50450301
GRCh38: 7:50382603-50382603
3 IKZF1 NM_006060.6(IKZF1):c.629A>G (p.Tyr210Cys) SNV Pathogenic 224777 rs869312883 GRCh37: 7:50455082-50455082
GRCh38: 7:50387384-50387384
4 IKZF1 NM_006060.6(IKZF1):c.551G>A (p.Arg184Gln) SNV Pathogenic 224781 rs869312885 GRCh37: 7:50450367-50450367
GRCh38: 7:50382669-50382669
5 IKZF1 NM_006060.6(IKZF1):c.485G>T (p.Arg162Leu) SNV Pathogenic 224778 rs770551610 GRCh37: 7:50450301-50450301
GRCh38: 7:50382603-50382603
6 IKZF1 NM_006060.6(IKZF1):c.584A>G (p.His195Arg) SNV Pathogenic 428611 rs1131690788 GRCh37: 7:50450400-50450400
GRCh38: 7:50382702-50382702
7 IKZF1 NM_006060.6(IKZF1):c.546C>A (p.Cys182Ter) SNV Pathogenic 692112 rs530073586 GRCh37: 7:50450362-50450362
GRCh38: 7:50382664-50382664
8 IKZF1 NM_006060.6(IKZF1):c.500A>G (p.His167Arg) SNV Pathogenic 224780 rs869312884 GRCh37: 7:50450316-50450316
GRCh38: 7:50382618-50382618
9 IKZF1 NM_006060.6(IKZF1):c.548G>A (p.Arg183His) SNV Likely pathogenic 977104 GRCh37: 7:50450364-50450364
GRCh38: 7:50382666-50382666
10 IKZF1 NM_006060.6(IKZF1):c.814G>A (p.Ala272Thr) SNV Likely pathogenic 548705 rs778820674 GRCh37: 7:50459525-50459525
GRCh38: 7:50391827-50391827
11 IKZF1 NM_006060.6(IKZF1):c.64G>A (p.Asp22Asn) SNV Likely pathogenic 548932 rs1245618829 GRCh37: 7:50367257-50367257
GRCh38: 7:50327661-50327661
12 IKZF1 NM_006060.6(IKZF1):c.161-15019A>G SNV Uncertain significance 996848 GRCh37: 7:50429212-50429212
GRCh38: 7:50361514-50361514
13 IKZF1 NM_006060.6(IKZF1):c.715+167C>T SNV Uncertain significance 1032403 GRCh37: 7:50455335-50455335
GRCh38: 7:50387637-50387637
14 IKZF1 NM_006060.6(IKZF1):c.161-8328C>A SNV Benign 811017 rs76112582 GRCh37: 7:50435903-50435903
GRCh38: 7:50368205-50368205

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

72
# 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

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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