Lrba Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LRB003 MIFTS: 23	Lrba Deficiency Categories: Gastrointestinal diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Expand all tables

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Gastrointestinal diseases Immune diseases

See all MalaCards categories (disease lists)

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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...

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Related Diseases for Lrba Deficiency

Diseases related to Lrba Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)

#	Related Disease	Score	Top Affiliating Genes
1	common variable immunodeficiency	29.4	CTLA4 LRBA
2	immunodeficiency, common variable, 8, with autoimmunity	11.4
3	autoimmune disease	10.0
4	immunodysregulation, polyendocrinopathy, and enteropathy, x-linked	10.0
5	arthritis	10.0
6	hematopoietic stem cell transplantation	10.0
7	colitis	10.0
8	agammaglobulinemia	10.0
9	adenocarcinoma	10.0
10	gastric adenocarcinoma	10.0
11	juvenile rheumatoid arthritis	10.0
12	irritable bowel syndrome	10.0
13	immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia	9.7	CTLA4 LRBA
14	autoimmune lymphoproliferative syndrome	9.6	CTLA4 LRBA

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

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Symptoms & Phenotypes for Lrba Deficiency

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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

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Genetic Tests for Lrba Deficiency

Genetic tests related to Lrba Deficiency:

#	Genetic test	Affiliating Genes
1	Common Variable Immunodeficiency 8, with Autoimmunity ³⁰	LRBA

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Anatomical Context for Lrba Deficiency

MalaCards organs/tissues related to Lrba Deficiency:

⁴²

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

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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 )	Azizi G...Aghamohammadi A	2019
2	Patients with "ALPS-like phenotype" diagnosed with immune dysregulation due to LRBA deficiency. ( 30479033 )	Fern?ndez KS...Kumar A	2019
3	G2-lymphocyte chromosomal radiosensitivity in patients with LPS responsive beige-like anchor protein (LRBA) deficiency. ( 30714845 )	Mozdarani H...Aghamohammadi A	2019
4	Bone marrow transplantation with Favorable outcome in three patients with LPS-responsive beige-like anchor (LRBA) deficiency. ( 31026575 )	Okur FV...Uckan-Cetinkaya D	2019
5	CTLA-4 Expression in CD4+ T Cells From Patients With LRBA Deficiency and Common Variable Immunodeficiency With No Known Monogenic Disease. ( 30530390 )	Azizi G...Aghamohammadi A	2018
6	Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. ( 28601686 )	Alroqi FJ...Chatila TA	2018
7	Two Faces of LRBA Deficiency in Siblings: Hypogammaglobulinemia and Normal Immunoglobulin Levels. ( 29461210 )	Azizi G...Aghamohammadi A	2018
8	Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency. ( 29528757 )	Azizi G...Aghamohammadi A	2018
9	Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency. ( 29740429 )	G?mez-D?az L...Grimbacher B	2018
10	The imbalance of circulating T helper subsets and regulatory T cells in patients with LRBA deficiency: Correlation with disease severity. ( 29806698 )	Azizi G...Aghamohammadi A	2018
11	LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy. ( 30386343 )	Soler-Palac?n P...Colobran R	2018
12	Multifocal gastric adenocarcinoma in a patient with LRBA deficiency. ( 28720148 )	Bratani? N...Avbelj Stefanija M	2017
13	Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis? ( 28134088 )	Al-Mayouf SM...Al-Mousa H	2017
14	Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study. ( 28512785 )	Azizi G...Aghamohammadi A	2017
15	Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation. ( 28611475 )	Burnett DL...Goodnow CC	2017
16	New therapeutic approach by sirolimus for enteropathy treatment in patients with LRBA deficiency. ( 28884992 )	Azizi G...Aghamohammadi A	2017
17	Multiple Presentations of LRBA Deficiency: a Single-Center Experience. ( 28956255 )	Kostel Bal S...Ikinciogullari A	2017
18	The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. ( 26768763 )	G?mez-D?az L...Grimbacher B	2016
19	LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. ( 27057999 )	L?vy E...Rieux-Laucat F	2016
20	AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. ( 26206937 )	Lo B...Jordan MB	2015
21	Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency. ( 25539626 )	Seidel MG...Boztug K	2015
22	Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. ( 25479458 )	Serwas NK...Boztug K	2015
23	Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. ( 25468195 )	Charbonnier LM...Chatila TA	2015
24	LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. ( 22721650 )	Alangari A...Alkuraya FS	2012
25	Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. ( 22608502 )	Lopez-Herrera G...Grimbacher B	2012

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Genes for Lrba Deficiency

Genes related to Lrba Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	517.66	Pathogenic ⁶ Genetic Tests ³⁰ GeneCards inferred via : Publications (show sections)	22608502 22721650 25468195
2	CTLA4	Cytotoxic T-Lymphocyte Associated Protein 4	Protein Coding	16.96	GeneCards inferred via : Publications (show sections)

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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

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Expression for Lrba Deficiency

Search GEO for disease gene expression data for Lrba Deficiency.

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Pathways for Lrba Deficiency

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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

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Sources for Lrba Deficiency

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

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⁴⁹ NCBI Bookshelf

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⁵¹ NCIt

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⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia