MCID: LRB003
MIFTS: 20

Lrba Deficiency

Categories: Gastrointestinal diseases, Immune diseases, Rare diseases

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:



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...

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

Search Clinical Trials , NIH Clinical Center for Lrba Deficiency

Genetic Tests for Lrba Deficiency

Anatomical Context for Lrba Deficiency

MalaCards organs/tissues related to Lrba Deficiency:

41
T Cells, B Cells, Testes, Bone, Bone Marrow

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
31432443 2019
2
Leishmaniasis and autoimmunity in patient with LPS-responsive beige-like anchor protein (LRBA) deficiency. 38
31389321 2019
3
G2-lymphocyte chromosomal radiosensitivity in patients with LPS responsive beige-like anchor protein (LRBA) deficiency. 38
30714845 2019
4
Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency. 38
31238161 2019
5
Bone marrow transplantation with Favorable outcome in three patients with LPS-responsive beige-like anchor (LRBA) deficiency. 38
31026575 2019
6
Clinical, Immunologic, and Molecular Spectrum of Patients with LPS-Responsive Beige-Like Anchor Protein Deficiency: A Systematic Review. 38
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
30193889 2019
8
Patients with "ALPS-like phenotype" diagnosed with immune dysregulation due to LRBA deficiency. 38
30479033 2019
9
CTLA4 Message Reflects Pathway Disruption in Monogenic Disorders and Under Therapeutic Blockade. 38
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
30530390 2018
11
The imbalance of circulating T helper subsets and regulatory T cells in patients with LRBA deficiency: Correlation with disease severity. 38
29806698 2018
12
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome. 38
30479781 2018
13
Monogenic polyautoimmunity in primary immunodeficiency diseases. 38
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
30188351 2018
15
LRBA in the endomembrane system. 38
30410199 2018
16
Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients. 38
29777306 2018
17
Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency. 38
29528757 2018
18
Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. 38
28601686 2018
19
LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy. 38
30386343 2018
20
Flow cytometry-based diagnosis of primary immunodeficiency diseases. 38
28684198 2018
21
Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency. 38
29740429 2018
22
Two Faces of LRBA Deficiency in Siblings: Hypogammaglobulinemia and Normal Immunoglobulin Levels. 38
29461210 2018
23
Multiple Presentations of LRBA Deficiency: a Single-Center Experience. 38
28956255 2017
24
The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing. 38
28893864 2017
25
Immunological phenotype of the murine Lrba knockout. 38
28652580 2017
26
Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation. 38
28611475 2017
27
New therapeutic approach by sirolimus for enteropathy treatment in patients with LRBA deficiency. 38
28884992 2017
28
Inflammatory bowel disease caused by primary immunodeficiencies-Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm. 38
28513998 2017
29
Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study. 38
28512785 2017
30
Multifocal gastric adenocarcinoma in a patient with LRBA deficiency. 38
28720148 2017
31
An Update on the Use of Immunomodulators in Primary Immunodeficiencies. 38
27873163 2017
32
Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis? 38
28134088 2017
33
Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency. 38
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
27888588 2016
35
LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. 38
27057999 2016
36
Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation. 38
27146671 2016
37
Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation. 38
26745254 2016
38
Atypical Manifestation of LPS-Responsive Beige-Like Anchor Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency. 38
27683652 2016
39
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. 38
26768763 2016
40
AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. 38
26206937 2015
41
Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency. 38
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
25468195 2015
43
Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. 38
25479458 2015
44
Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment. 38
25163701 2014

Variations for Lrba Deficiency

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 LRBA CTLA4

Sources for Lrba Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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