MCID: IMM055
MIFTS: 23

Immunodeficiency, Common Variable, 8, with Autoimmunity

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

Aliases & Classifications for Immunodeficiency, Common Variable, 8, with Autoimmunity

MalaCards integrated aliases for Immunodeficiency, Common Variable, 8, with Autoimmunity:

Name: Immunodeficiency, Common Variable, 8, with Autoimmunity 57 75 13 73
Cvid8 57 75
Combined Immunodeficiency Due to Lrba Deficiency 59
Cid Due to Lrba Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
combined immunodeficiency due to lrba deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early childhood
highly variable clinical and immunologic phenotype
patients may present with autoimmune features or primary immunodeficiency
some patients may not have recurrent infections


HPO:

32
immunodeficiency, common variable, 8, with autoimmunity:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Immunodeficiency, Common Variable, 8, with Autoimmunity

OMIM : 57 Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594). (614700)

MalaCards based summary : Immunodeficiency, Common Variable, 8, with Autoimmunity, also known as cvid8, is related to lrba deficiency. An important gene associated with Immunodeficiency, Common Variable, 8, with Autoimmunity is LRBA (LPS Responsive Beige-Like Anchor Protein). Affiliated tissues include b cells, t cells and lung, and related phenotypes are hypothyroidism and failure to thrive

UniProtKB/Swiss-Prot : 75 Immunodeficiency, common variable, 8, with autoimmunity: An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease.

Related Diseases for Immunodeficiency, Common Variable, 8, with Autoimmunity

Diseases related to Immunodeficiency, Common Variable, 8, with Autoimmunity via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lrba deficiency 11.3

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 8, with Autoimmunity

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypothyroidism

Skeletal:
arthritis

Immunology:
recurrent infections
lymphadenopathy
autoimmune disorders
hypogammaglobulinemia
neutropenia (in some patients)
more
Hematology:
autoimmune hemolytic anemia
pancytopenia (in some patients)
idiopathic thrombocytopenia purpura

Respiratory:
respiratory infections, recurrent

Head And Neck Head:
sinusitis, recurrent

Head And Neck Eyes:
conjunctivitis, recurrent

Growth Other:
failure to thrive
poor growth

Respiratory Lung:
asthma
pneumonia
chronic lung disease
interstitial pneumonia
fibrosing pneumonitis

Respiratory Airways:
bronchiectasis

Abdomen Gastrointestinal:
colitis
inflammatory bowel disease
autoimmune enteropathy
diarrhea, recurrent
atrophic gastritis
more
Laboratory Abnormalities:
hypogammaglobulinemia (in some patients)
decreased nk cells (in some patients)
decreased igg
decreased igm
decreased iga
more
Head And Neck Ears:
otitis media, recurrent

Skeletal Hands:
clubbing of the fingers


Clinical features from OMIM:

614700

Human phenotypes related to Immunodeficiency, Common Variable, 8, with Autoimmunity:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 32 HP:0000821
2 failure to thrive 32 HP:0001508
3 arthritis 32 HP:0001369
4 immunodeficiency 32 HP:0002721
5 pancytopenia 32 occasional (7.5%) HP:0001876
6 growth delay 32 HP:0001510
7 recurrent otitis media 32 HP:0000403
8 thrombocytopenia 32 HP:0001873
9 asthma 32 HP:0002099
10 conjunctivitis 32 HP:0000509
11 neutropenia 32 occasional (7.5%) HP:0001875
12 chronic diarrhea 32 HP:0002028
13 lymphadenopathy 32 HP:0002716
14 bronchiectasis 32 HP:0002110
15 pneumonia 32 HP:0002090
16 iga deficiency 32 HP:0002720
17 igm deficiency 32 HP:0002850
18 autoimmune hemolytic anemia 32 HP:0001890
19 clubbing of fingers 32 HP:0100759
20 gastritis 32 HP:0005263
21 recurrent sinusitis 32 HP:0011108
22 chronic lung disease 32 HP:0006528
23 colitis 32 HP:0002583

Drugs & Therapeutics for Immunodeficiency, Common Variable, 8, with Autoimmunity

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 8, with Autoimmunity

Genetic Tests for Immunodeficiency, Common Variable, 8, with Autoimmunity

Anatomical Context for Immunodeficiency, Common Variable, 8, with Autoimmunity

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 8, with Autoimmunity:

41
B Cells, T Cells, Lung, Nk Cells

Publications for Immunodeficiency, Common Variable, 8, with Autoimmunity

Variations for Immunodeficiency, Common Variable, 8, with Autoimmunity

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency, Common Variable, 8, with Autoimmunity:

75
# Symbol AA change Variation ID SNP ID
1 LRBA p.Ile2657Ser VAR_068690 rs199469663

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 8, with Autoimmunity:

6
(show top 50) (show all 195)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRBA NM_006726.4(LRBA): c.7970T> G (p.Ile2657Ser) single nucleotide variant Pathogenic rs199469663 GRCh37 Chromosome 4, 151223857: 151223857
2 LRBA NM_006726.4(LRBA): c.7970T> G (p.Ile2657Ser) single nucleotide variant Pathogenic rs199469663 GRCh38 Chromosome 4, 150302705: 150302705
3 LRBA NM_006726.4(LRBA): c.5047C> T (p.Arg1683Ter) single nucleotide variant Pathogenic rs199469662 GRCh37 Chromosome 4, 151749456: 151749456
4 LRBA NM_006726.4(LRBA): c.5047C> T (p.Arg1683Ter) single nucleotide variant Pathogenic rs199469662 GRCh38 Chromosome 4, 150828304: 150828304
5 LRBA NM_006726.4(LRBA): c.175G> T (p.Glu59Ter) single nucleotide variant Pathogenic rs199469664 GRCh37 Chromosome 4, 151935620: 151935620
6 LRBA NM_006726.4(LRBA): c.175G> T (p.Glu59Ter) single nucleotide variant Pathogenic rs199469664 GRCh38 Chromosome 4, 151014468: 151014468
7 LRBA NC_000004.12: g.150971137_151082250del111114 deletion Pathogenic GRCh37 Chromosome 4, 151892289: 152003402
8 LRBA NC_000004.12: g.150971137_151082250del111114 deletion Pathogenic NCBI36 Chromosome 4, 152111739: 152222852
9 LRBA NC_000004.12: g.150971137_151082250del111114 deletion Pathogenic GRCh38 Chromosome 4, 150971137: 151082250
10 LRBA NM_006726.4(LRBA): c.6657_6658delGA (p.Glu2219Aspfs) deletion Pathogenic rs727503779 GRCh37 Chromosome 4, 151392818: 151392819
11 LRBA NM_006726.4(LRBA): c.6657_6658delGA (p.Glu2219Aspfs) deletion Pathogenic rs727503779 GRCh38 Chromosome 4, 150471666: 150471667
12 LRBA NM_006726.4(LRBA): c.2032C> T (p.Gln678Ter) single nucleotide variant Pathogenic rs727503780 GRCh37 Chromosome 4, 151817581: 151817581
13 LRBA NM_006726.4(LRBA): c.2032C> T (p.Gln678Ter) single nucleotide variant Pathogenic rs727503780 GRCh38 Chromosome 4, 150896429: 150896429
14 LRBA NM_006726.4(LRBA): c.549+6A> C single nucleotide variant Uncertain significance rs199594598 GRCh37 Chromosome 4, 151849662: 151849662
15 LRBA NM_006726.4(LRBA): c.549+6A> C single nucleotide variant Uncertain significance rs199594598 GRCh38 Chromosome 4, 150928510: 150928510
16 LRBA NM_006726.4(LRBA): c.787C> G (p.Leu263Val) single nucleotide variant Uncertain significance rs143625481 GRCh37 Chromosome 4, 151837660: 151837660
17 LRBA NM_006726.4(LRBA): c.787C> G (p.Leu263Val) single nucleotide variant Uncertain significance rs143625481 GRCh38 Chromosome 4, 150916508: 150916508
18 LRBA NM_001199282.2(LRBA): c.2444A> G (p.Asn815Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140666848 GRCh37 Chromosome 4, 151791682: 151791682
19 LRBA NM_001199282.2(LRBA): c.2444A> G (p.Asn815Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140666848 GRCh38 Chromosome 4, 150870530: 150870530
20 LRBA NM_006726.4(LRBA): c.3568A> G (p.Met1190Val) single nucleotide variant Benign rs138173151 GRCh37 Chromosome 4, 151773294: 151773294
21 LRBA NM_006726.4(LRBA): c.3568A> G (p.Met1190Val) single nucleotide variant Benign rs138173151 GRCh38 Chromosome 4, 150852142: 150852142
22 LRBA NM_006726.4(LRBA): c.5004G> A (p.Pro1668=) single nucleotide variant Conflicting interpretations of pathogenicity rs775567440 GRCh37 Chromosome 4, 151749499: 151749499
23 LRBA NM_006726.4(LRBA): c.5004G> A (p.Pro1668=) single nucleotide variant Conflicting interpretations of pathogenicity rs775567440 GRCh38 Chromosome 4, 150828347: 150828347
24 LRBA NM_006726.4(LRBA): c.1713C> T (p.His571=) single nucleotide variant Conflicting interpretations of pathogenicity rs145812385 GRCh37 Chromosome 4, 151827032: 151827032
25 LRBA NM_006726.4(LRBA): c.1713C> T (p.His571=) single nucleotide variant Conflicting interpretations of pathogenicity rs145812385 GRCh38 Chromosome 4, 150905880: 150905880
26 LRBA NM_006726.4(LRBA): c.1399A> G (p.Met467Val) single nucleotide variant Conflicting interpretations of pathogenicity rs116355217 GRCh37 Chromosome 4, 151829580: 151829580
27 LRBA NM_006726.4(LRBA): c.1399A> G (p.Met467Val) single nucleotide variant Conflicting interpretations of pathogenicity rs116355217 GRCh38 Chromosome 4, 150908428: 150908428
28 LRBA NM_006726.4(LRBA): c.8584C> T (p.Arg2862Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs145709687 GRCh37 Chromosome 4, 151186882: 151186882
29 LRBA NM_006726.4(LRBA): c.8584C> T (p.Arg2862Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs145709687 GRCh38 Chromosome 4, 150265730: 150265730
30 LRBA NM_006726.4(LRBA): c.2526T> C (p.Phe842=) single nucleotide variant Benign/Likely benign rs139428189 GRCh37 Chromosome 4, 151789381: 151789381
31 LRBA NM_006726.4(LRBA): c.2526T> C (p.Phe842=) single nucleotide variant Benign/Likely benign rs139428189 GRCh38 Chromosome 4, 150868229: 150868229
32 LRBA NM_006726.4(LRBA): c.2340A> G (p.Thr780=) single nucleotide variant Conflicting interpretations of pathogenicity rs79392371 GRCh37 Chromosome 4, 151792524: 151792524
33 LRBA NM_006726.4(LRBA): c.2340A> G (p.Thr780=) single nucleotide variant Conflicting interpretations of pathogenicity rs79392371 GRCh38 Chromosome 4, 150871372: 150871372
34 LRBA NM_006726.4(LRBA): c.5989C> T (p.Arg1997Cys) single nucleotide variant Benign/Likely benign rs35879351 GRCh37 Chromosome 4, 151520216: 151520216
35 LRBA NM_006726.4(LRBA): c.5989C> T (p.Arg1997Cys) single nucleotide variant Benign/Likely benign rs35879351 GRCh38 Chromosome 4, 150599064: 150599064
36 LRBA NM_006726.4(LRBA): c.4485C> T (p.Gly1495=) single nucleotide variant Benign rs11735845 GRCh38 Chromosome 4, 150844184: 150844184
37 LRBA NM_006726.4(LRBA): c.4485C> T (p.Gly1495=) single nucleotide variant Benign rs11735845 GRCh37 Chromosome 4, 151765336: 151765336
38 LRBA NM_006726.4(LRBA): c.5241T> C (p.Asn1747=) single nucleotide variant Benign rs72719631 GRCh37 Chromosome 4, 151738340: 151738340
39 LRBA NM_006726.4(LRBA): c.5241T> C (p.Asn1747=) single nucleotide variant Benign rs72719631 GRCh38 Chromosome 4, 150817188: 150817188
40 LRBA NM_006726.4(LRBA): c.114G> T (p.Gly38=) single nucleotide variant Benign rs72721739 GRCh37 Chromosome 4, 151935681: 151935681
41 LRBA NM_006726.4(LRBA): c.114G> T (p.Gly38=) single nucleotide variant Benign rs72721739 GRCh38 Chromosome 4, 151014529: 151014529
42 LRBA NM_006726.4(LRBA): c.1316A> G (p.Asn439Ser) single nucleotide variant Uncertain significance rs572309256 GRCh37 Chromosome 4, 151829855: 151829855
43 LRBA NM_006726.4(LRBA): c.1316A> G (p.Asn439Ser) single nucleotide variant Uncertain significance rs572309256 GRCh38 Chromosome 4, 150908703: 150908703
44 LRBA NM_006726.4(LRBA): c.7597A> C (p.Thr2533Pro) single nucleotide variant Benign/Likely benign rs62346982 GRCh37 Chromosome 4, 151242409: 151242409
45 LRBA NM_006726.4(LRBA): c.7597A> C (p.Thr2533Pro) single nucleotide variant Benign/Likely benign rs62346982 GRCh38 Chromosome 4, 150321257: 150321257
46 LRBA NM_006726.4(LRBA): c.8121G> A (p.Ala2707=) single nucleotide variant Benign rs78563281 GRCh37 Chromosome 4, 151207116: 151207116
47 LRBA NM_006726.4(LRBA): c.8121G> A (p.Ala2707=) single nucleotide variant Benign rs78563281 GRCh38 Chromosome 4, 150285964: 150285964
48 LRBA NM_006726.4(LRBA): c.7663+10G> C single nucleotide variant Benign rs57901153 GRCh37 Chromosome 4, 151242333: 151242333
49 LRBA NM_006726.4(LRBA): c.7663+10G> C single nucleotide variant Benign rs57901153 GRCh38 Chromosome 4, 150321181: 150321181
50 LRBA NM_006726.4(LRBA): c.5581-5dup duplication Benign GRCh37 Chromosome 4, 151683004: 151683004

Expression for Immunodeficiency, Common Variable, 8, with Autoimmunity

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 8, with Autoimmunity.

Pathways for Immunodeficiency, Common Variable, 8, with Autoimmunity

GO Terms for Immunodeficiency, Common Variable, 8, with Autoimmunity

Sources for Immunodeficiency, Common Variable, 8, with Autoimmunity

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
Content
Loading form....