MCID: LRB003
MIFTS: 21

Lrba Deficiency

Categories: Rare diseases, Gastrointestinal diseases, Immune diseases

Aliases & Classifications for Lrba Deficiency

MalaCards integrated aliases for Lrba Deficiency:

Name: Lrba Deficiency 53
Common Variable Immunodeficiency 8, with Autoimmunity 29 6
Lrba Deficiency with Autoantibodies, Regulatory T Cell Defects, Autoimmune Infiltration, and Enteropathy 53
Immunodeficiency, Variable, Common, Type 8, with Autoimmunity 40
Common Variable Immunodeficiency-8 with Autoimmunity 53
Combined Immunodeficiency Due to Lrba Deficiency 53
Cid Due to Lrba Deficiency 53
Lataie Disease 53

Classifications:



Summaries for Lrba Deficiency

MalaCards based summary : Lrba Deficiency, also known as common variable immunodeficiency 8, with autoimmunity, is related to immunodeficiency, common variable, 8, with autoimmunity and autoimmune disease. An important gene associated with Lrba Deficiency is LRBA (LPS Responsive Beige-Like Anchor Protein). Affiliated tissues include t cells and testes.

Wikipedia : 76 LRBA deficiency is a rare genetic disorder of the immune system. This disorder is caused by a mutation... more...

Related Diseases for Lrba Deficiency

Graphical network of the top 20 diseases related to Lrba Deficiency:



Diseases related to Lrba Deficiency

Symptoms & Phenotypes for Lrba Deficiency

Drugs & Therapeutics for Lrba Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912

Search NIH Clinical Center for Lrba Deficiency

Genetic Tests for Lrba Deficiency

Genetic tests related to Lrba Deficiency:

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

Anatomical Context for Lrba Deficiency

MalaCards organs/tissues related to Lrba Deficiency:

41
T Cells, Testes

Publications for Lrba Deficiency

Articles related to Lrba Deficiency:

(show all 16)
# Title Authors Year
1
Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency. ( 29740429 )
2018
2
Two Faces of LRBA Deficiency in Siblings: Hypogammaglobulinemia and Normal Immunoglobulin Levels. ( 29461210 )
2018
3
Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. ( 28601686 )
2018
4
Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency. ( 29528757 )
2018
5
The imbalance of circulating T helper subsets and regulatory T cells in patients with LRBA deficiency: Correlation with disease severity. ( 29806698 )
2018
6
New therapeutic approach by sirolimus for enteropathy treatment in patients with LRBA deficiency. ( 28884992 )
2017
7
Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study. ( 28512785 )
2017
8
Multiple Presentations of LRBA Deficiency: a Single-Center Experience. ( 28956255 )
2017
9
Multifocal gastric adenocarcinoma in a patient with LRBA deficiency. ( 28720148 )
2017
10
Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation. ( 28611475 )
2017
11
Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis? ( 28134088 )
2017
12
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. ( 26768763 )
2016
13
LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. ( 27057999 )
2016
14
AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. ( 26206937 )
2015
15
Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency. ( 25539626 )
2015
16
Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. ( 25479458 )
2015

Variations for Lrba Deficiency

ClinVar genetic disease variations for Lrba Deficiency:

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 Lrba Deficiency

Search GEO for disease gene expression data for Lrba Deficiency.

Pathways for Lrba Deficiency

GO Terms for Lrba Deficiency

Cellular components related to Lrba Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 8.62 CTLA4 LRBA

Sources for Lrba Deficiency

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
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