CVID8
MCID: IMM055
MIFTS: 30

Immunodeficiency, Common Variable, 8, with Autoimmunity (CVID8)

Categories: Blood diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare 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 74 13 72
Common Variable Immunodeficiency 8, with Autoimmunity 29 6
Cvid8 57 74
Immunodeficiency, Variable, Common, Type 8, with Autoimmunity 40
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:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

MeSH 44 D017074
ICD10 via Orphanet 34 D81.8
Orphanet 59 ORPHA445018
UMLS 72 C3553512

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 common variable immunodeficiency 8, with autoimmunity, 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 pancytopenia and neutropenia

UniProtKB/Swiss-Prot : 74 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 11.6

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

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

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

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

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

Genetic tests related to Immunodeficiency, Common Variable, 8, with Autoimmunity:

# Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 8, with Autoimmunity 29 LRBA

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

Articles related to Immunodeficiency, Common Variable, 8, with Autoimmunity:

# Title Authors PMID Year
1
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. 8 71
25468195 2015
2
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. 8 71
22721650 2012
3
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. 8 71
22608502 2012
4
AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. 8
26206937 2015
5
LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. 8
22981790 2012

Variations for Immunodeficiency, Common Variable, 8, with Autoimmunity

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

6 (show top 50) (show all 244)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LRBA NC_000004.11: g.(?_151509180)_(151656538_?)del deletion Pathogenic 4:151509180-151656538 4:150588028-150735386
2 LRBA NM_001364905.1(LRBA): c.7937T> G (p.Ile2646Ser) single nucleotide variant Pathogenic rs199469663 4:151223857-151223857 4:150302705-150302705
3 LRBA NM_001364905.1(LRBA): c.5047C> T (p.Arg1683Ter) single nucleotide variant Pathogenic rs199469662 4:151749456-151749456 4:150828304-150828304
4 LRBA NM_001364905.1(LRBA): c.175G> T (p.Glu59Ter) single nucleotide variant Pathogenic rs199469664 4:151935620-151935620 4:151014468-151014468
5 LRBA NC_000004.10: g.152111739_152222852del deletion Pathogenic 4:151892289-152003402 4:150971137-151082250
6 LRBA NM_001364905.1(LRBA): c.6620_6621GA[2] (p.Glu2208fs) short repeat Pathogenic rs727503779 4:151392818-151392819 4:150471666-150471667
7 LRBA NM_001364905.1(LRBA): c.2032C> T (p.Gln678Ter) single nucleotide variant Pathogenic rs727503780 4:151817581-151817581 4:150896429-150896429
8 LRBA NM_001364905.1(LRBA): c.3811C> T (p.Arg1271Ter) single nucleotide variant Pathogenic 4:151773051-151773051 4:150851899-150851899
9 LRBA NM_001364905.1(LRBA): c.2563_2564delinsTG (p.Glu855Ter) indel Pathogenic 4:151789343-151789344 4:150868191-150868192
10 LRBA NM_001364905.1(LRBA): c.4_16dup (p.Asn6delinsSerTer) duplication Pathogenic rs1554020278 4:151935779-151935791 4:151014627-151014639
11 LRBA NM_001364905.1(LRBA): c.7007G> A (p.Trp2336Ter) single nucleotide variant Pathogenic 4:151356775-151356775 4:150435623-150435623
12 LRBA NM_001364905.1(LRBA): c.8332C> T (p.Arg2778Ter) single nucleotide variant Pathogenic 4:151199141-151199141 4:150277989-150277989
13 LRBA NC_000004.11: g.(?_151231361)_(151271331_?)del deletion Pathogenic 4:151231361-151271331 4:150310209-150350179
14 LRBA NM_001364905.1(LRBA): c.5645+2T> A single nucleotide variant Likely pathogenic 4:151682933-151682933 4:150761781-150761781
15 LRBA NM_001364905.1(LRBA): c.6445_6446AG[1] (p.Arg2149fs) short repeat Likely pathogenic 4:151412070-151412071 4:150490918-150490919
16 LRBA NM_001364905.1(LRBA): c.7564A> C (p.Thr2522Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs62346982 4:151242409-151242409 4:150321257-150321257
17 LRBA NM_001364905.1(LRBA): c.5030A> G (p.Asn1677Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs17027133 4:151749473-151749473 4:150828321-150828321
18 LRBA NM_001364905.1(LRBA): c.4591T> G (p.Phe1531Val) single nucleotide variant Conflicting interpretations of pathogenicity rs114610541 4:151753107-151753107 4:150831955-150831955
19 LRBA NM_001364905.1(LRBA): c.2340A> G (p.Thr780=) single nucleotide variant Conflicting interpretations of pathogenicity rs79392371 4:151792524-151792524 4:150871372-150871372
20 LRBA NM_001364905.1(LRBA): c.2444A> G (p.Asn815Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140666848 4:151791682-151791682 4:150870530-150870530
21 LRBA NM_001364905.1(LRBA): c.5004G> A (p.Pro1668=) single nucleotide variant Conflicting interpretations of pathogenicity rs775567440 4:151749499-151749499 4:150828347-150828347
22 LRBA NM_001364905.1(LRBA): c.1713C> T (p.His571=) single nucleotide variant Conflicting interpretations of pathogenicity rs145812385 4:151827032-151827032 4:150905880-150905880
23 LRBA NM_001364905.1(LRBA): c.1399A> G (p.Met467Val) single nucleotide variant Conflicting interpretations of pathogenicity rs116355217 4:151829580-151829580 4:150908428-150908428
24 LRBA NM_001364905.1(LRBA): c.8551C> T (p.Arg2851Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs145709687 4:151186882-151186882 4:150265730-150265730
25 LRBA NM_001364905.1(LRBA): c.3407C> T (p.Pro1136Leu) single nucleotide variant Uncertain significance rs113022115 4:151773455-151773455 4:150852303-150852303
26 LRBA NM_001364905.1(LRBA): c.7687C> T (p.Leu2563Phe) single nucleotide variant Uncertain significance rs202014892 4:151236719-151236719 4:150315567-150315567
27 LRBA NM_001364905.1(LRBA): c.7021C> T (p.Arg2341Cys) single nucleotide variant Uncertain significance 4:151356761-151356761 4:150435609-150435609
28 LRBA NM_001364905.1(LRBA): c.7115A> G (p.Asp2372Gly) single nucleotide variant Uncertain significance 4:151336669-151336669 4:150415517-150415517
29 LRBA NM_001364905.1(LRBA): c.7258A> G (p.Lys2420Glu) single nucleotide variant Uncertain significance 4:151271248-151271248 4:150350096-150350096
30 LRBA NM_001364905.1(LRBA): c.7292A> G (p.Asn2431Ser) single nucleotide variant Uncertain significance 4:151271214-151271214 4:150350062-150350062
31 LRBA NM_001364905.1(LRBA): c.7358G> A (p.Arg2453Lys) single nucleotide variant Uncertain significance 4:151271148-151271148 4:150349996-150349996
32 LRBA NM_001364905.1(LRBA): c.7403C> T (p.Ser2468Phe) single nucleotide variant Uncertain significance 4:151247010-151247010 4:150325858-150325858
33 LRBA NM_001364905.1(LRBA): c.7859T> G (p.Ile2620Ser) single nucleotide variant Uncertain significance 4:151223935-151223935 4:150302783-150302783
34 LRBA NM_001364905.1(LRBA): c.7934A> T (p.Tyr2645Phe) single nucleotide variant Uncertain significance 4:151223860-151223860 4:150302708-150302708
35 LRBA NM_001364905.1(LRBA): c.8036G> A (p.Arg2679Gln) single nucleotide variant Uncertain significance 4:151207168-151207168 4:150286016-150286016
36 LRBA NM_001364905.1(LRBA): c.8078C> T (p.Ala2693Val) single nucleotide variant Uncertain significance 4:151207126-151207126 4:150285974-150285974
37 LRBA NM_001364905.1(LRBA): c.8256C> A (p.Phe2752Leu) single nucleotide variant Uncertain significance 4:151203662-151203662 4:150282510-150282510
38 LRBA NM_001364905.1(LRBA): c.8317G> A (p.Ala2773Thr) single nucleotide variant Uncertain significance 4:151199156-151199156 4:150278004-150278004
39 LRBA NM_001364905.1(LRBA): c.8071T> G (p.Cys2691Gly) single nucleotide variant Uncertain significance 4:151207133-151207133 4:150285981-150285981
40 LRBA NM_001364905.1(LRBA): c.6049A> C (p.Thr2017Pro) single nucleotide variant Uncertain significance 4:151512009-151512009 4:150590857-150590857
41 LRBA NM_001364905.1(LRBA): c.5062A> G (p.Ile1688Val) single nucleotide variant Uncertain significance 4:151749441-151749441 4:150828289-150828289
42 LRBA NM_001364905.1(LRBA): c.3748G> C (p.Ala1250Pro) single nucleotide variant Uncertain significance 4:151773114-151773114 4:150851962-150851962
43 LRBA NM_001364905.1(LRBA): c.3691A> G (p.Ser1231Gly) single nucleotide variant Uncertain significance 4:151773171-151773171 4:150852019-150852019
44 LRBA NM_006726.4(LRBA): c.1924+4_1924+7delTATA deletion Uncertain significance 4:151821194-151821197 4:150900042-150900045
45 LRBA NM_001364905.1(LRBA): c.1270C> T (p.Arg424Trp) single nucleotide variant Uncertain significance 4:151829901-151829901 4:150908749-150908749
46 LRBA NM_001364905.1(LRBA): c.737A> G (p.Asn246Ser) single nucleotide variant Uncertain significance 4:151837799-151837799 4:150916647-150916647
47 LRBA NM_001364905.1(LRBA): c.1372G> A (p.Val458Ile) single nucleotide variant Uncertain significance 4:151829607-151829607 4:150908455-150908455
48 LRBA NM_001364905.1(LRBA): c.7865T> C (p.Val2622Ala) single nucleotide variant Uncertain significance rs541116943 4:151223929-151223929 4:150302777-150302777
49 LRBA NM_001364905.1(LRBA): c.3914G> A (p.Arg1305His) single nucleotide variant Uncertain significance rs144754728 4:151771966-151771966 4:150850814-150850814
50 LRBA NM_001364905.1(LRBA): c.3751A> G (p.Thr1251Ala) single nucleotide variant Uncertain significance rs143973442 4:151773111-151773111 4:150851959-150851959

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

74
# Symbol AA change Variation ID SNP ID
1 LRBA p.Ile2657Ser VAR_068690 rs199469663

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
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10 dbSNP
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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