MCID: IMM064
MIFTS: 32

Immunodeficiency, Common Variable, 10

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

Aliases & Classifications for Immunodeficiency, Common Variable, 10

MalaCards integrated aliases for Immunodeficiency, Common Variable, 10:

Name: Immunodeficiency, Common Variable, 10 57 75 73
Deficit in Anterior Pituitary Function and Variable Immunodeficiency 57 75
Common Variable Immunodeficiency 10 29 6
Cvid10 57 75
David 57 75
Deficiency in Anterior Pituitary Function-Variable Immunodeficiency Syndrome 59
Deficit in Anterior Pituitary Function and Variable Immunodeficiency; David 57
Immunodeficiency, Common Variable, with Central Adrenal Insufficiency 57
Common Variable Immunodeficiency with Central Adrenal Insufficiency 75
Immunodeficiency, Variable, Common, Type 10 40
David Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
deficiency in anterior pituitary function-variable immunodeficiency syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in childhood
variable manifestations


HPO:

32
immunodeficiency, common variable, 10:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Immunodeficiency, Common Variable, 10

OMIM : 57 Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594). (615577)

MalaCards based summary : Immunodeficiency, Common Variable, 10, also known as deficit in anterior pituitary function and variable immunodeficiency, is related to mesomelia-synostoses syndrome and dysphagia lusoria. An important gene associated with Immunodeficiency, Common Variable, 10 is NFKB2 (Nuclear Factor Kappa B Subunit 2). Affiliated tissues include pituitary, b cells and thyroid, and related phenotypes are recurrent otitis media and diplopia

UniProtKB/Swiss-Prot : 75 Immunodeficiency, common variable, 10: A primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B-cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency.

Related Diseases for Immunodeficiency, Common Variable, 10

Diseases related to Immunodeficiency, Common Variable, 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 mesomelia-synostoses syndrome 11.7
2 dysphagia lusoria 11.2
3 spinocerebellar ataxia 7 10.9
4 poland syndrome 10.9
5 bloom syndrome 10.9
6 weaver syndrome 10.9
7 severe combined immunodeficiency 10.9
8 marfan syndrome 9.9
9 thrombophilia due to thrombin defect 9.8
10 thrombosis 9.8
11 sleeping sickness 9.8
12 brucellosis 9.8
13 cerebritis 9.8
14 immunodeficiency 10 9.8
15 common variable immunodeficiency 9.8
16 alcohol dependence 9.7
17 alzheimer disease 9.7
18 aortic valve disease 1 9.7
19 renal cell carcinoma, nonpapillary 9.7
20 adrenocortical carcinoma, hereditary 9.7
21 cardiac valvular defect, developmental 9.7
22 dermatitis, atopic 9.7
23 chromosome 16p13.3 deletion syndrome, proximal 9.7
24 burns 9.7
25 crohn's disease 9.7
26 follicular lymphoma 9.7
27 heart valve disease 9.7
28 liver disease 9.7
29 fetal alcohol syndrome 9.7
30 infective endocarditis 9.7
31 lymphoma 9.7
32 trypanosomiasis 9.7
33 endocarditis 9.7
34 q fever 9.7
35 goiter 9.7
36 entropion 9.7
37 endemic goiter 9.7
38 premature ejaculation 9.7
39 hereditary angioedema 9.7
40 pleural disease 9.7
41 angioedema 9.7
42 acromegaly 9.7
43 dermatitis 9.7
44 adrenal cortical adenocarcinoma 9.7
45 mutism 9.7
46 akinetic mutism 9.7
47 pleomorphic adenoma 9.7
48 adenoma 9.7
49 retroperitoneal fibrosis 9.7
50 trypanosomiasis, human east-african 9.7

Graphical network of the top 20 diseases related to Immunodeficiency, Common Variable, 10:



Diseases related to Immunodeficiency, Common Variable, 10

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 10

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
recurrent respiratory infections
asthma

Endocrine Features:
central adrenal insufficiency
growth hormone deficiency (1 patient)

Skin Nails Hair Nails:
onychodystrophy (in some patients)
trachyonychia (in some patients)

Skin Nails Hair Skin:
psoriasiform dermatitis (in some patients)

Immunology:
recurrent infections
hypogammaglobulinemia
low levels of memory b cells
autoimmune features (in some patients)
autoantibodies (in some patients)
more
Laboratory Abnormalities:
low serum cortisol
low serum acth
hypoglycemia, intermittent

Skin Nails Hair Hair:
alopecia (in some patients)

Neurologic Central Nervous System:
developmental delay (1 patient)
hypoplastic anterior pituitary (in some patients)


Clinical features from OMIM:

615577

Human phenotypes related to Immunodeficiency, Common Variable, 10:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000403
2 diplopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000651
3 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
4 growth hormone deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000824
5 hypoglycemic coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001325
6 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
7 alopecia 59 32 occasional (7.5%) Frequent (79-30%) HP:0001596
8 autoimmune thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001973
9 recurrent hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001988
10 bronchiectasis 59 32 frequent (33%) Frequent (79-30%) HP:0002110
11 absence seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002121
12 hypotension 59 32 hallmark (90%) Very frequent (99-80%) HP:0002615
13 recurrent bronchitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002837
14 severe b lymphocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005365
15 hyponatremia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002902
16 decreased circulating acth level 59 32 hallmark (90%) Very frequent (99-80%) HP:0002920
17 psoriasiform dermatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003765
18 decreased antibody level in blood 59 32 hallmark (90%) Very frequent (99-80%) HP:0004313
19 severe viral infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0005364
20 recurrent pneumonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006532
21 alopecia totalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0007418
22 nail dystrophy 59 32 occasional (7.5%) Frequent (79-30%) HP:0008404
23 recurrent sinusitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0011108
24 adrenocorticotropin deficient adrenal insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0011735
25 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
26 abnormal size of pituitary gland 59 32 frequent (33%) Frequent (79-30%) HP:0012504
27 decreased circulating androgen level 59 32 occasional (7.5%) Occasional (29-5%) HP:0030349
28 decreased serum insulin-like growth factor 1 59 32 occasional (7.5%) Occasional (29-5%) HP:0030353
29 recurrent pharyngitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100776
30 abnormality of the periungual region 59 32 frequent (33%) Frequent (79-30%) HP:0100803
31 sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100806
32 hypocortisolemia 59 Very frequent (99-80%)
33 vitiligo 59 Excluded (0%)
34 hyperkalemia 59 Excluded (0%)
35 recurrent upper respiratory tract infections 59 Very frequent (99-80%)
36 abnormality of cells of the lymphoid lineage 59 Frequent (79-30%)
37 autoimmune antibody positivity 59 Excluded (0%)
38 thyroiditis 59 Excluded (0%)
39 asthma 32 HP:0002099
40 recurrent respiratory infections 32 HP:0002205
41 immunodeficiency 32 HP:0002721
42 central adrenal insufficiency 32 HP:0011734
43 trachyonychia 32 occasional (7.5%) HP:0030804
44 decreased circulating cortisol level 32 hallmark (90%) HP:0008163

Drugs & Therapeutics for Immunodeficiency, Common Variable, 10

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 10

Genetic Tests for Immunodeficiency, Common Variable, 10

Genetic tests related to Immunodeficiency, Common Variable, 10:

# Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 10 29 NFKB2

Anatomical Context for Immunodeficiency, Common Variable, 10

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 10:

41
Pituitary, B Cells, Thyroid, T Cells

Publications for Immunodeficiency, Common Variable, 10

Articles related to Immunodeficiency, Common Variable, 10:

# Title Authors Year
1
Psoriasiform dermatitis associated with common variable immunodeficiency 10 due to an Arg853* mutation in the NFKB2 gene. ( 29952021 )
2018

Variations for Immunodeficiency, Common Variable, 10

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 10:

6
(show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 NFKB2 NM_001077494.3(NFKB2): c.2557C> T (p.Arg853Ter) single nucleotide variant Pathogenic rs397514332 GRCh37 Chromosome 10, 104161895: 104161895
2 NFKB2 NM_001077494.3(NFKB2): c.2557C> T (p.Arg853Ter) single nucleotide variant Pathogenic rs397514332 GRCh38 Chromosome 10, 102402138: 102402138
3 NFKB2 NM_001288724.1(NFKB2): c.2564delA (p.Lys855Serfs) deletion Pathogenic rs397514331 GRCh37 Chromosome 10, 104161902: 104161902
4 NFKB2 NM_001288724.1(NFKB2): c.2564delA (p.Lys855Serfs) deletion Pathogenic rs397514331 GRCh38 Chromosome 10, 102402145: 102402145
5 NFKB2 NM_001077494.3(NFKB2): c.2556_2563delCCGAGACA (p.Arg853Alafs) deletion Pathogenic rs727502786 GRCh37 Chromosome 10, 104161894: 104161901
6 NFKB2 NM_001077494.3(NFKB2): c.2556_2563delCCGAGACA (p.Arg853Alafs) deletion Pathogenic rs727502786 GRCh38 Chromosome 10, 102402137: 102402144
7 NFKB2 NM_001077494.3(NFKB2): c.2594A> G (p.Asp865Gly) single nucleotide variant Pathogenic rs727502787 GRCh37 Chromosome 10, 104162024: 104162024
8 NFKB2 NM_001077494.3(NFKB2): c.2594A> G (p.Asp865Gly) single nucleotide variant Pathogenic rs727502787 GRCh38 Chromosome 10, 102402267: 102402267
9 NFKB2 NM_001077494.3(NFKB2): c.2600C> T (p.Ala867Val) single nucleotide variant Pathogenic rs727502788 GRCh37 Chromosome 10, 104162030: 104162030
10 NFKB2 NM_001077494.3(NFKB2): c.2600C> T (p.Ala867Val) single nucleotide variant Pathogenic rs727502788 GRCh38 Chromosome 10, 102402273: 102402273
11 NFKB2 NM_001077494.3(NFKB2): c.2467-9T> A single nucleotide variant Benign rs11574853 GRCh38 Chromosome 10, 102402039: 102402039
12 NFKB2 NM_001077494.3(NFKB2): c.2467-9T> A single nucleotide variant Benign rs11574853 GRCh37 Chromosome 10, 104161796: 104161796
13 NFKB2 NM_001077494.3(NFKB2): c.40G> A (p.Glu14Lys) single nucleotide variant Benign rs45581936 GRCh37 Chromosome 10, 104156028: 104156028
14 NFKB2 NM_001077494.3(NFKB2): c.40G> A (p.Glu14Lys) single nucleotide variant Benign rs45581936 GRCh38 Chromosome 10, 102396271: 102396271
15 NFKB2 NM_001077494.3(NFKB2): c.1869G> A (p.Gly623=) single nucleotide variant Benign rs138786808 GRCh37 Chromosome 10, 104160482: 104160482
16 NFKB2 NM_001077494.3(NFKB2): c.1869G> A (p.Gly623=) single nucleotide variant Benign rs138786808 GRCh38 Chromosome 10, 102400725: 102400725
17 NFKB2 NM_001077494.3(NFKB2): c.2286C> T (p.Ser762=) single nucleotide variant Likely benign rs899733509 GRCh37 Chromosome 10, 104161268: 104161268
18 NFKB2 NM_001077494.3(NFKB2): c.2286C> T (p.Ser762=) single nucleotide variant Likely benign rs899733509 GRCh38 Chromosome 10, 102401511: 102401511
19 NFKB2 NM_001077494.3(NFKB2): c.2601G> A (p.Ala867=) single nucleotide variant Likely benign GRCh38 Chromosome 10, 102402274: 102402274
20 NFKB2 NM_001077494.3(NFKB2): c.2601G> A (p.Ala867=) single nucleotide variant Likely benign GRCh37 Chromosome 10, 104162031: 104162031
21 NFKB2 NM_001077494.3(NFKB2): c.1097G> A (p.Gly366Asp) single nucleotide variant Uncertain significance rs747854969 GRCh38 Chromosome 10, 102398844: 102398844
22 NFKB2 NM_001077494.3(NFKB2): c.1097G> A (p.Gly366Asp) single nucleotide variant Uncertain significance rs747854969 GRCh37 Chromosome 10, 104158601: 104158601
23 NFKB2 NM_001077494.3(NFKB2): c.1269G> A (p.Pro423=) single nucleotide variant Benign rs4919633 GRCh37 Chromosome 10, 104159196: 104159196
24 NFKB2 NM_001077494.3(NFKB2): c.1269G> A (p.Pro423=) single nucleotide variant Benign rs4919633 GRCh38 Chromosome 10, 102399439: 102399439
25 NFKB2 NM_001077494.3(NFKB2): c.1288C> T (p.Pro430Ser) single nucleotide variant Likely benign rs202001697 GRCh38 Chromosome 10, 102399458: 102399458
26 NFKB2 NM_001077494.3(NFKB2): c.1288C> T (p.Pro430Ser) single nucleotide variant Likely benign rs202001697 GRCh37 Chromosome 10, 104159215: 104159215
27 NFKB2 NM_001077494.3(NFKB2): c.1821G> A (p.Ala607=) single nucleotide variant Benign rs4919634 GRCh37 Chromosome 10, 104160434: 104160434
28 NFKB2 NM_001077494.3(NFKB2): c.1821G> A (p.Ala607=) single nucleotide variant Benign rs4919634 GRCh38 Chromosome 10, 102400677: 102400677
29 NFKB2 NM_001077494.3(NFKB2): c.1962C> T (p.Val654=) single nucleotide variant Benign rs201623844 GRCh37 Chromosome 10, 104160575: 104160575
30 NFKB2 NM_001077494.3(NFKB2): c.1962C> T (p.Val654=) single nucleotide variant Benign rs201623844 GRCh38 Chromosome 10, 102400818: 102400818
31 NFKB2 NM_001077494.3(NFKB2): c.2239C> T (p.Leu747=) single nucleotide variant Benign rs11191279 GRCh37 Chromosome 10, 104161221: 104161221
32 NFKB2 NM_001077494.3(NFKB2): c.2239C> T (p.Leu747=) single nucleotide variant Benign rs11191279 GRCh38 Chromosome 10, 102401464: 102401464
33 NFKB2 NM_001077494.3(NFKB2): c.2579C> G (p.Ala860Gly) single nucleotide variant Uncertain significance rs371190206 GRCh38 Chromosome 10, 102402252: 102402252
34 NFKB2 NM_001077494.3(NFKB2): c.2579C> G (p.Ala860Gly) single nucleotide variant Uncertain significance rs371190206 GRCh37 Chromosome 10, 104162009: 104162009
35 NFKB2 NM_001077494.3(NFKB2): c.1386C> G (p.Leu462=) single nucleotide variant Likely benign rs762807587 GRCh37 Chromosome 10, 104159392: 104159392
36 NFKB2 NM_001077494.3(NFKB2): c.1386C> G (p.Leu462=) single nucleotide variant Likely benign rs762807587 GRCh38 Chromosome 10, 102399635: 102399635
37 NFKB2 NM_001077494.3(NFKB2): c.2072-3C> T single nucleotide variant Likely benign rs201550645 GRCh38 Chromosome 10, 102401177: 102401177
38 NFKB2 NM_001077494.3(NFKB2): c.2072-3C> T single nucleotide variant Likely benign rs201550645 GRCh37 Chromosome 10, 104160934: 104160934
39 NFKB2 NM_001077494.3(NFKB2): c.2094C> T (p.Asn698=) single nucleotide variant Benign rs11574851 GRCh37 Chromosome 10, 104160959: 104160959
40 NFKB2 NM_001077494.3(NFKB2): c.2094C> T (p.Asn698=) single nucleotide variant Benign rs11574851 GRCh38 Chromosome 10, 102401202: 102401202
41 NFKB2 NM_001077494.3(NFKB2): c.216G> A (p.Lys72=) single nucleotide variant Likely benign rs369551276 GRCh37 Chromosome 10, 104156553: 104156553
42 NFKB2 NM_001077494.3(NFKB2): c.216G> A (p.Lys72=) single nucleotide variant Likely benign rs369551276 GRCh38 Chromosome 10, 102396796: 102396796
43 NFKB2 NM_001077494.3(NFKB2): c.921G> A (p.Leu307=) single nucleotide variant Benign rs146926941 GRCh38 Chromosome 10, 102398453: 102398453
44 NFKB2 NM_001077494.3(NFKB2): c.921G> A (p.Leu307=) single nucleotide variant Benign rs146926941 GRCh37 Chromosome 10, 104158210: 104158210
45 NFKB2 NM_001077494.3(NFKB2): c.1170C> A (p.Ser390=) single nucleotide variant Likely benign GRCh37 Chromosome 10, 104159097: 104159097
46 NFKB2 NM_001077494.3(NFKB2): c.1170C> A (p.Ser390=) single nucleotide variant Likely benign GRCh38 Chromosome 10, 102399340: 102399340
47 NFKB2 NM_001077494.3(NFKB2): c.1826G> A (p.Arg609Gln) single nucleotide variant Benign rs200092317 GRCh37 Chromosome 10, 104160439: 104160439
48 NFKB2 NM_001077494.3(NFKB2): c.1826G> A (p.Arg609Gln) single nucleotide variant Benign rs200092317 GRCh38 Chromosome 10, 102400682: 102400682
49 NFKB2 NM_001077494.3(NFKB2): c.396-5C> T single nucleotide variant Likely benign rs373971415 GRCh37 Chromosome 10, 104157054: 104157054
50 NFKB2 NM_001077494.3(NFKB2): c.396-5C> T single nucleotide variant Likely benign rs373971415 GRCh38 Chromosome 10, 102397297: 102397297

Expression for Immunodeficiency, Common Variable, 10

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 10.

Pathways for Immunodeficiency, Common Variable, 10

GO Terms for Immunodeficiency, Common Variable, 10

Sources for Immunodeficiency, Common Variable, 10

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7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
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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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