MCID: LRB003
MIFTS: 23

Lrba Deficiency

Categories: Gastrointestinal diseases, Immune diseases, Rare diseases

Aliases & Classifications for Lrba Deficiency

MalaCards integrated aliases for Lrba Deficiency:

Name: Lrba Deficiency 54
Common Variable Immunodeficiency 8, with Autoimmunity 30 6
Lrba Deficiency with Autoantibodies, Regulatory T Cell Defects, Autoimmune Infiltration, and Enteropathy 54
Immunodeficiency, Variable, Common, Type 8, with Autoimmunity 41
Common Variable Immunodeficiency-8 with Autoimmunity 54
Combined Immunodeficiency Due to Lrba Deficiency 54
Cid Due to Lrba Deficiency 54
Lataie Disease 54

Classifications:



Summaries for Lrba Deficiency

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 445018Disease definitionA rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.Visit the Orphanet disease page for more resources.

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

Wikipedia : 77 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 30 LRBA

Anatomical Context for Lrba Deficiency

MalaCards organs/tissues related to Lrba Deficiency:

42
T Cells, B Cells, Bone, Testes, Bone Marrow

Publications for Lrba Deficiency

Articles related to Lrba Deficiency:

(show all 25)
# Title Authors Year
1
The profile of IL-4, IL-5, IL-10 and GATA3 in patients with LRBA deficiency and CVID with no known monogenic disease: Association with disease severity. ( 30193889 )
2019
2
Patients with "ALPS-like phenotype" diagnosed with immune dysregulation due to LRBA deficiency. ( 30479033 )
2019
3
G2-lymphocyte chromosomal radiosensitivity in patients with LPS responsive beige-like anchor protein (LRBA) deficiency. ( 30714845 )
2019
4
Bone marrow transplantation with Favorable outcome in three patients with LPS-responsive beige-like anchor (LRBA) deficiency. ( 31026575 )
2019
5
CTLA-4 Expression in CD4+ T Cells From Patients With LRBA Deficiency and Common Variable Immunodeficiency With No Known Monogenic Disease. ( 30530390 )
2018
6
Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. ( 28601686 )
2018
7
Two Faces of LRBA Deficiency in Siblings: Hypogammaglobulinemia and Normal Immunoglobulin Levels. ( 29461210 )
2018
8
Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency. ( 29528757 )
2018
9
Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency. ( 29740429 )
2018
10
The imbalance of circulating T helper subsets and regulatory T cells in patients with LRBA deficiency: Correlation with disease severity. ( 29806698 )
2018
11
LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy. ( 30386343 )
2018
12
Multifocal gastric adenocarcinoma in a patient with LRBA deficiency. ( 28720148 )
2017
13
Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis? ( 28134088 )
2017
14
Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study. ( 28512785 )
2017
15
Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation. ( 28611475 )
2017
16
New therapeutic approach by sirolimus for enteropathy treatment in patients with LRBA deficiency. ( 28884992 )
2017
17
Multiple Presentations of LRBA Deficiency: a Single-Center Experience. ( 28956255 )
2017
18
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. ( 26768763 )
2016
19
LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. ( 27057999 )
2016
20
AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. ( 26206937 )
2015
21
Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency. ( 25539626 )
2015
22
Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. ( 25479458 )
2015
23
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. ( 25468195 )
2015
24
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. ( 22721650 )
2012
25
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. ( 22608502 )
2012

Variations for Lrba Deficiency

ClinVar genetic disease variations for Lrba Deficiency:

6 (show top 50) (show all 301)
# 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.6355G> A (p.Asp2119Asn) single nucleotide variant Uncertain significance rs142598024 GRCh37 Chromosome 4, 151509208: 151509208
17 LRBA NM_006726.4(LRBA): c.6355G> A (p.Asp2119Asn) single nucleotide variant Uncertain significance rs142598024 GRCh38 Chromosome 4, 150588056: 150588056
18 LRBA NM_006726.4(LRBA): c.787C> G (p.Leu263Val) single nucleotide variant Uncertain significance rs143625481 GRCh37 Chromosome 4, 151837660: 151837660
19 LRBA NM_006726.4(LRBA): c.787C> G (p.Leu263Val) single nucleotide variant Uncertain significance rs143625481 GRCh38 Chromosome 4, 150916508: 150916508
20 LRBA NM_001199282.2(LRBA): c.2444A> G (p.Asn815Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140666848 GRCh37 Chromosome 4, 151791682: 151791682
21 LRBA NM_001199282.2(LRBA): c.2444A> G (p.Asn815Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140666848 GRCh38 Chromosome 4, 150870530: 150870530
22 LRBA NM_006726.4(LRBA): c.3568A> G (p.Met1190Val) single nucleotide variant Benign rs138173151 GRCh37 Chromosome 4, 151773294: 151773294
23 LRBA NM_006726.4(LRBA): c.3568A> G (p.Met1190Val) single nucleotide variant Benign rs138173151 GRCh38 Chromosome 4, 150852142: 150852142
24 LRBA NM_006726.4(LRBA): c.2209G> A (p.Val737Ile) single nucleotide variant Uncertain significance rs151213445 GRCh37 Chromosome 4, 151793864: 151793864
25 LRBA NM_006726.4(LRBA): c.2209G> A (p.Val737Ile) single nucleotide variant Uncertain significance rs151213445 GRCh38 Chromosome 4, 150872712: 150872712
26 LRBA NM_006726.4(LRBA): c.5004G> A (p.Pro1668=) single nucleotide variant Conflicting interpretations of pathogenicity rs775567440 GRCh37 Chromosome 4, 151749499: 151749499
27 LRBA NM_006726.4(LRBA): c.5004G> A (p.Pro1668=) single nucleotide variant Conflicting interpretations of pathogenicity rs775567440 GRCh38 Chromosome 4, 150828347: 150828347
28 LRBA NM_006726.4(LRBA): c.1713C> T (p.His571=) single nucleotide variant Conflicting interpretations of pathogenicity rs145812385 GRCh37 Chromosome 4, 151827032: 151827032
29 LRBA NM_006726.4(LRBA): c.1713C> T (p.His571=) single nucleotide variant Conflicting interpretations of pathogenicity rs145812385 GRCh38 Chromosome 4, 150905880: 150905880
30 LRBA NM_006726.4(LRBA): c.1399A> G (p.Met467Val) single nucleotide variant Conflicting interpretations of pathogenicity rs116355217 GRCh37 Chromosome 4, 151829580: 151829580
31 LRBA NM_006726.4(LRBA): c.1399A> G (p.Met467Val) single nucleotide variant Conflicting interpretations of pathogenicity rs116355217 GRCh38 Chromosome 4, 150908428: 150908428
32 LRBA NM_006726.4(LRBA): c.8584C> T (p.Arg2862Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs145709687 GRCh37 Chromosome 4, 151186882: 151186882
33 LRBA NM_006726.4(LRBA): c.8584C> T (p.Arg2862Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs145709687 GRCh38 Chromosome 4, 150265730: 150265730
34 LRBA NM_006726.4(LRBA): c.2526T> C (p.Phe842=) single nucleotide variant Benign/Likely benign rs139428189 GRCh37 Chromosome 4, 151789381: 151789381
35 LRBA NM_006726.4(LRBA): c.2526T> C (p.Phe842=) single nucleotide variant Benign/Likely benign rs139428189 GRCh38 Chromosome 4, 150868229: 150868229
36 LRBA NM_006726.4(LRBA): c.2340A> G (p.Thr780=) single nucleotide variant Conflicting interpretations of pathogenicity rs79392371 GRCh37 Chromosome 4, 151792524: 151792524
37 LRBA NM_006726.4(LRBA): c.2340A> G (p.Thr780=) single nucleotide variant Conflicting interpretations of pathogenicity rs79392371 GRCh38 Chromosome 4, 150871372: 150871372
38 LRBA NM_006726.4(LRBA): c.5989C> T (p.Arg1997Cys) single nucleotide variant Benign/Likely benign rs35879351 GRCh37 Chromosome 4, 151520216: 151520216
39 LRBA NM_006726.4(LRBA): c.5989C> T (p.Arg1997Cys) single nucleotide variant Benign/Likely benign rs35879351 GRCh38 Chromosome 4, 150599064: 150599064
40 LRBA NM_006726.4(LRBA): c.4485C> T (p.Gly1495=) single nucleotide variant Benign rs11735845 GRCh38 Chromosome 4, 150844184: 150844184
41 LRBA NM_006726.4(LRBA): c.4485C> T (p.Gly1495=) single nucleotide variant Benign rs11735845 GRCh37 Chromosome 4, 151765336: 151765336
42 LRBA NM_006726.4(LRBA): c.5241T> C (p.Asn1747=) single nucleotide variant Benign/Likely benign rs72719631 GRCh37 Chromosome 4, 151738340: 151738340
43 LRBA NM_006726.4(LRBA): c.5241T> C (p.Asn1747=) single nucleotide variant Benign/Likely benign rs72719631 GRCh38 Chromosome 4, 150817188: 150817188
44 LRBA NM_006726.4(LRBA): c.114G> T (p.Gly38=) single nucleotide variant Benign/Likely benign rs72721739 GRCh37 Chromosome 4, 151935681: 151935681
45 LRBA NM_006726.4(LRBA): c.114G> T (p.Gly38=) single nucleotide variant Benign/Likely benign rs72721739 GRCh38 Chromosome 4, 151014529: 151014529
46 LRBA NM_006726.4(LRBA): c.1316A> G (p.Asn439Ser) single nucleotide variant Uncertain significance rs572309256 GRCh37 Chromosome 4, 151829855: 151829855
47 LRBA NM_006726.4(LRBA): c.1316A> G (p.Asn439Ser) single nucleotide variant Uncertain significance rs572309256 GRCh38 Chromosome 4, 150908703: 150908703
48 LRBA NM_006726.4(LRBA): c.7597A> C (p.Thr2533Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs62346982 GRCh37 Chromosome 4, 151242409: 151242409
49 LRBA NM_006726.4(LRBA): c.7597A> C (p.Thr2533Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs62346982 GRCh38 Chromosome 4, 150321257: 150321257
50 LRBA NM_006726.4(LRBA): c.8121G> A (p.Ala2707=) single nucleotide variant Benign rs78563281 GRCh37 Chromosome 4, 151207116: 151207116

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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