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

MCID: LRB003 MIFTS: 20	Lrba Deficiency Categories: Gastrointestinal diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Lrba Deficiency

MalaCards integrated aliases for Lrba Deficiency:

Name: Lrba Deficiency ⁵³

Lrba Deficiency with Autoantibodies, Regulatory T Cell Defects, Autoimmune Infiltration, and Enteropathy ⁵³

Common Variable Immunodeficiency-8 with Autoimmunity ⁵³

Combined Immunodeficiency Due to Lrba Deficiency ⁵³

Cid Due to Lrba Deficiency ⁵³

Lataie Disease ⁵³

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 : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 445018DefinitionA 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 lrba deficiency with autoantibodies, regulatory t cell defects, autoimmune infiltration, and enteropathy, is related to common variable immunodeficiency and autoimmune lymphoproliferative syndrome. An important gene associated with Lrba Deficiency is LRBA (LPS Responsive Beige-Like Anchor Protein). Affiliated tissues include t cells, b cells and testes.

Wikipedia : ⁷⁵ 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 31)

#	Related Disease	Score	Top Affiliating Genes
1	common variable immunodeficiency	29.4	LRBA CTLA4
2	autoimmune lymphoproliferative syndrome	29.1	LRBA CTLA4
3	immunodeficiency, common variable, 8, with autoimmunity	11.8
4	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	10.6
5	agammaglobulinemia	10.4
6	inflammatory bowel disease	10.4
7	autoimmune disease	10.3
8	hematopoietic stem cell transplantation	10.3
9	diarrhea	10.2
10	autosomal recessive disease	10.2
11	combined t cell and b cell immunodeficiency	10.2
12	kala-azar 1	10.0
13	colitis	10.0
14	t cell deficiency	10.0
15	lymphocytic choriomeningitis	10.0
16	uveitis	10.0
17	oral candidiasis	10.0
18	thrombocytopenia	10.0
19	b cell deficiency	10.0
20	adenocarcinoma	10.0
21	interstitial lung disease	10.0
22	gastric adenocarcinoma	10.0
23	juvenile rheumatoid arthritis	10.0
24	thyroiditis	10.0
25	lung disease	10.0
26	evans' syndrome	10.0
27	leishmaniasis	10.0
28	visceral leishmaniasis	10.0
29	anterior uveitis	10.0
30	pneumococcal meningitis	10.0
31	immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia	9.5	LRBA CTLA4

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

Search Clinical Trials , NIH Clinical Center for Lrba Deficiency

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Genetic Tests for Lrba Deficiency

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Anatomical Context for Lrba Deficiency

MalaCards organs/tissues related to Lrba Deficiency:

⁴¹

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

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Publications for Lrba Deficiency

Articles related to Lrba Deficiency:

(show all 44)

#	Title	Authors	PMID	Year
1	A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects. ³⁸	Cagdas D...Tezcan I	31432443	2019
2	Leishmaniasis and autoimmunity in patient with LPS-responsive beige-like anchor protein (LRBA) deficiency. ³⁸	Salami F...Aghamohammadi A	31389321	2019
3	G2-lymphocyte chromosomal radiosensitivity in patients with LPS responsive beige-like anchor protein (LRBA) deficiency. ³⁸	Mozdarani H...Aghamohammadi A	30714845	2019
4	Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency. ³⁸	Kiykim A...Baris S	31238161	2019
5	Bone marrow transplantation with Favorable outcome in three patients with LPS-responsive beige-like anchor (LRBA) deficiency. ³⁸	Okur FV...Uckan-Cetinkaya D	31026575	2019
6	Clinical, Immunologic, and Molecular Spectrum of Patients with LPS-Responsive Beige-Like Anchor Protein Deficiency: A Systematic Review. ³⁸	Habibi S...Azizi G	30995531	2019
7	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. ³⁸	Azizi G...Aghamohammadi A	30193889	2019
8	Patients with "ALPS-like phenotype" diagnosed with immune dysregulation due to LRBA deficiency. ³⁸	Fernandez KS...Kumar A	30479033	2019
9	CTLA4 Message Reflects Pathway Disruption in Monogenic Disorders and Under Therapeutic Blockade. ³⁸	Garcia-Perez JE...Hsieh EWY	31156616	2019
10	CTLA-4 Expression in CD4+ T Cells From Patients With LRBA Deficiency and Common Variable Immunodeficiency With No Known Monogenic Disease. ³⁸	Azizi G...Aghamohammadi A	30530390	2018
11	The imbalance of circulating T helper subsets and regulatory T cells in patients with LRBA deficiency: Correlation with disease severity. ³⁸	Azizi G...Aghamohammadi A	29806698	2018
12	Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome. ³⁸	Eren Akarcan S...Kutukculer N	30479781	2018
13	Monogenic polyautoimmunity in primary immunodeficiency diseases. ³⁸	Azizi G...Anaya JM	30107266	2018
14	Acquired Pure Red Cell Aplasia and Acquired Amegakaryocytic Thrombocytopenia Associated With Clonal Expansion of T-Cell Large Granular Lymphocytes in a Patient With Lipopolysaccharide-responsive Beige-like Anchor (LRBA) Protein Deficiency. ³⁸	Rajpurkar M...Savasan S	30188351	2018
15	LRBA in the endomembrane system. ³⁸	Martinez Jaramillo C...Trujillo-Vargas CM	30410199	2018
16	Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients. ³⁸	Shamriz O...Stepensky P	29777306	2018
17	Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency. ³⁸	Azizi G...Aghamohammadi A	29528757	2018
18	Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. ³⁸	Alroqi FJ...Chatila TA	28601686	2018
19	LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy. ³⁸	Soler-Palacin P...Colobran R	30386343	2018
20	Flow cytometry-based diagnosis of primary immunodeficiency diseases. ³⁸	Kanegane H...Morio T	28684198	2018
21	Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency. ³⁸	Gamez-Diaz L...Grimbacher B	29740429	2018
22	Two Faces of LRBA Deficiency in Siblings: Hypogammaglobulinemia and Normal Immunoglobulin Levels. ³⁸	Azizi G...Aghamohammadi A	29461210	2018
23	Multiple Presentations of LRBA Deficiency: a Single-Center Experience. ³⁸	Kostel Bal S...Ikinciogullari A	28956255	2017
24	The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing. ³⁸	Vogl C...Strenzke N	28893864	2017
25	Immunological phenotype of the murine Lrba knockout. ³⁸	Gamez-Diaz L...Jung S	28652580	2017
26	Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation. ³⁸	Burnett DL...Goodnow CC	28611475	2017
27	New therapeutic approach by sirolimus for enteropathy treatment in patients with LRBA deficiency. ³⁸	Azizi G...Aghamohammadi A	28884992	2017
28	Inflammatory bowel disease caused by primary immunodeficiencies-Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm. ³⁸	Tegtmeyer D...Klemann C	28513998	2017
29	Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study. ³⁸	Azizi G...Aghamohammadi A	28512785	2017
30	Multifocal gastric adenocarcinoma in a patient with LRBA deficiency. ³⁸	Bratanic N...Avbelj Stefanija M	28720148	2017
31	An Update on the Use of Immunomodulators in Primary Immunodeficiencies. ³⁸	Vignesh P...Singh S	27873163	2017
32	Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis? ³⁸	Al-Mayouf SM...Al-Mousa H	28134088	2017
33	Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency. ³⁸	Bakhtiar S...Bader P	28197149	2017
34	LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells. ³⁸	Shokri S...Rezaei N	27888588	2016
35	LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. ³⁸	Levy E...Rieux-Laucat F	27057999	2016
36	Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation. ³⁸	Tesi B...Meeths M	27146671	2016
37	Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation. ³⁸	Schreiner F...Woelfle J	26745254	2016
38	Atypical Manifestation of LPS-Responsive Beige-Like Anchor Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency. ³⁸	Bakhtiar S...Paetow U	27683652	2016
39	The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. ³⁸	Gamez-Diaz L...Grimbacher B	26768763	2016
40	AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. ³⁸	Lo B...Jordan MB	26206937	2015
41	Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency. ³⁸	Seidel MG...Boztug K	25539626	2015
42	Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. ³⁸	Charbonnier LM...Chatila TA	25468195	2015
43	Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. ³⁸	Serwas NK...Boztug K	25479458	2015
44	Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment. ³⁸	Seidel MG	25163701	2014

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Genes for Lrba Deficiency

Genes related to Lrba Deficiency (0 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	17.84	GeneCards inferred via : Publications (show sections)
2	CTLA4	Cytotoxic T-Lymphocyte Associated Protein 4	Protein Coding	17.29	GeneCards inferred via : Publications (show sections)

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Variations for Lrba Deficiency

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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	LRBA CTLA4

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Sources for Lrba Deficiency

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