CVID8
MCID: IMM055
MIFTS: 42

Immunodeficiency, Common Variable, 8, with Autoimmunity (CVID8)

Categories: Blood diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency, Common Variable, 8, with Autoimmunity

MalaCards integrated aliases for Immunodeficiency, Common Variable, 8, with Autoimmunity:

Name: Immunodeficiency, Common Variable, 8, with Autoimmunity 56 73 13 71
Common Variable Immunodeficiency 8, with Autoimmunity 29 6
Combined Immunodeficiency Due to Lrba Deficiency 52 58
Cid Due to Lrba Deficiency 52 58
Cvid8 56 73
Lrba Deficiency with Autoantibodies, Regulatory T Cell Defects, Autoimmune Infiltration, and Enteropathy 52
Immunodeficiency, Variable, Common, Type 8, with Autoimmunity 39
Common Variable Immunodeficiency-8 with Autoimmunity 52
Lrba Deficiency 52
Lataie Disease 52

Characteristics:

Orphanet epidemiological data:

58
combined immunodeficiency due to lrba deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early childhood
highly variable clinical and immunologic phenotype
patients may present with autoimmune features or primary immunodeficiency
some patients may not have recurrent infections


HPO:

31
immunodeficiency, common variable, 8, with autoimmunity:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare endocrine diseases
Rare immunological diseases


Summaries for Immunodeficiency, Common Variable, 8, with Autoimmunity

OMIM : 56 Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594). (614700)

MalaCards based summary : Immunodeficiency, Common Variable, 8, with Autoimmunity, also known as common variable immunodeficiency 8, with autoimmunity, is related to alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity and common variable immunodeficiency. An important gene associated with Immunodeficiency, Common Variable, 8, with Autoimmunity is LRBA (LPS Responsive Beige-Like Anchor Protein). The drugs Abatacept and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and lung, and related phenotypes are neutropenia and pancytopenia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 445018 Definition A 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.

UniProtKB/Swiss-Prot : 73 Immunodeficiency, common variable, 8, with autoimmunity: An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease.

Related Diseases for Immunodeficiency, Common Variable, 8, with Autoimmunity

Graphical network of the top 20 diseases related to Immunodeficiency, Common Variable, 8, with Autoimmunity:



Diseases related to Immunodeficiency, Common Variable, 8, with Autoimmunity

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 8, with Autoimmunity

Human phenotypes related to Immunodeficiency, Common Variable, 8, with Autoimmunity:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 neutropenia 31 occasional (7.5%) HP:0001875
2 pancytopenia 31 occasional (7.5%) HP:0001876
3 arthritis 31 HP:0001369
4 hypothyroidism 31 HP:0000821
5 failure to thrive 31 HP:0001508
6 immunodeficiency 31 HP:0002721
7 growth delay 31 HP:0001510
8 recurrent otitis media 31 HP:0000403
9 thrombocytopenia 31 HP:0001873
10 asthma 31 HP:0002099
11 conjunctivitis 31 HP:0000509
12 chronic diarrhea 31 HP:0002028
13 lymphadenopathy 31 HP:0002716
14 pneumonia 31 HP:0002090
15 bronchiectasis 31 HP:0002110
16 decreased circulating iga level 31 HP:0002720
17 decreased circulating total igm 31 HP:0002850
18 gastritis 31 HP:0005263
19 autoimmune hemolytic anemia 31 HP:0001890
20 colitis 31 HP:0002583
21 recurrent sinusitis 31 HP:0011108
22 chronic lung disease 31 HP:0006528
23 clubbing of fingers 31 HP:0100759

Symptoms via clinical synopsis from OMIM:

56
Skeletal:
arthritis

Growth Other:
failure to thrive
poor growth

Immunology:
lymphadenopathy
recurrent infections
autoimmune disorders
hypogammaglobulinemia
neutropenia (in some patients)
more
Hematology:
autoimmune hemolytic anemia
pancytopenia (in some patients)
idiopathic thrombocytopenia purpura

Respiratory:
respiratory infections, recurrent

Head And Neck Head:
sinusitis, recurrent

Head And Neck Eyes:
conjunctivitis, recurrent

Endocrine Features:
hypothyroidism

Respiratory Lung:
asthma
pneumonia
chronic lung disease
interstitial pneumonia
fibrosing pneumonitis

Respiratory Airways:
bronchiectasis

Abdomen Gastrointestinal:
colitis
inflammatory bowel disease
autoimmune enteropathy
diarrhea, recurrent
atrophic gastritis
more
Laboratory Abnormalities:
hypogammaglobulinemia (in some patients)
decreased nk cells (in some patients)
decreased igg
decreased igm
decreased iga
more
Head And Neck Ears:
otitis media, recurrent

Skeletal Hands:
clubbing of the fingers

Clinical features from OMIM:

614700

Drugs & Therapeutics for Immunodeficiency, Common Variable, 8, with Autoimmunity

Drugs for Immunodeficiency, Common Variable, 8, with Autoimmunity (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abatacept Approved 332348-12-6 10237
2 Immunosuppressive Agents
3 Immunologic Factors
4 Antirheumatic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Identification of New Immunopathogenic Mechanisms Associated With LRBA or CTLA4 Deficiencies Recruiting NCT04377867 Abatacept Injection [Orencia]

Search NIH Clinical Center for Immunodeficiency, Common Variable, 8, with Autoimmunity

Genetic Tests for Immunodeficiency, Common Variable, 8, with Autoimmunity

Genetic tests related to Immunodeficiency, Common Variable, 8, with Autoimmunity:

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

Anatomical Context for Immunodeficiency, Common Variable, 8, with Autoimmunity

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 8, with Autoimmunity:

40
B Cells, T Cells, Lung, Nk Cells, Bone Marrow, Bone, Testes

Publications for Immunodeficiency, Common Variable, 8, with Autoimmunity

Articles related to Immunodeficiency, Common Variable, 8, with Autoimmunity:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. 56 6 61
25468195 2015
2
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. 6 56
22721650 2012
3
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. 56 6
22608502 2012
4
AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. 56 61
26206937 2015
5
LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. 56
22981790 2012
6
Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients. 61
32506362 2020
7
Identifying Novel Mutations in Iranian Patients with LPS-responsive Beige-like Anchor Protein (LRBA) Deficiency. 61
32476511 2020
8
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score. 61
31887391 2020
9
Novel compound heterozygous stop-gain mutations of LRBA in a Vietnamese patient with Common Variable Immune Deficiency. 61
32154999 2020
10
Primary immunodeficiency disorders in children with Non-Cystic Fibrosis Bronchiectasis. 61
32372587 2020
11
LRBA deficiency: a new genetic cause of monogenic lupus. 61
31852671 2020
12
Dissecting the localization of lipopolysaccharide-responsive and beige-like anchor protein (LRBA) in the endomembrane system. 61
31883622 2020
13
Leishmaniasis and Autoimmunity in Patient with LPS-Responsive Beige-Like Anchor Protein (LRBA) Deficiency. 61
31389321 2020
14
Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease. 61
32219082 2020
15
Unusual Late-onset Enteropathy in a Patient With Lipopolysaccharide-responsive Beige-like Anchor Protein (LRBA) Deficiency. 61
31876783 2019
16
Disorders of CTLA-4 expression, how they lead to CVID and dysregulated immune responses. 61
31573993 2019
17
Arthritis in children with LRBA deficiency - case report and literature review. 61
31847838 2019
18
Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency. 61
31238161 2019
19
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. 61
30188351 2019
20
A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects. 61
31432443 2019
21
Clinical, Immunologic, and Molecular Spectrum of Patients with LPS-Responsive Beige-Like Anchor Protein Deficiency: A Systematic Review. 61
30995531 2019
22
Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia. 61
32284663 2019
23
Bone marrow transplantation with Favorable outcome in three patients with LPS-responsive beige-like anchor (LRBA) deficiency. 61
31026575 2019
24
G2-lymphocyte chromosomal radiosensitivity in patients with LPS responsive beige-like anchor protein (LRBA) deficiency. 61
30714845 2019
25
Patients with "ALPS-like phenotype" diagnosed with immune dysregulation due to LRBA deficiency. 61
30479033 2019
26
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. 61
30193889 2019
27
CTLA4 Message Reflects Pathway Disruption in Monogenic Disorders and Under Therapeutic Blockade. 61
31156616 2019
28
Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation. 61
31871423 2019
29
CTLA-4 Expression in CD4+ T Cells From Patients With LRBA Deficiency and Common Variable Immunodeficiency With No Known Monogenic Disease. 61
30530390 2018
30
The imbalance of circulating T helper subsets and regulatory T cells in patients with LRBA deficiency: Correlation with disease severity. 61
29806698 2018
31
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome. 61
30479781 2018
32
Monogenic polyautoimmunity in primary immunodeficiency diseases. 61
30107266 2018
33
LRBA in the endomembrane system. 61
30410199 2018
34
Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients. 61
29777306 2018
35
Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency. 61
29528757 2018
36
Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. 61
28601686 2018
37
Flow cytometry-based diagnosis of primary immunodeficiency diseases. 61
28684198 2018
38
LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy. 61
30386343 2018
39
Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency. 61
29740429 2018
40
Two Faces of LRBA Deficiency in Siblings: Hypogammaglobulinemia and Normal Immunoglobulin Levels. 61
29461210 2018
41
The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing. 61
28893864 2017
42
Multiple Presentations of LRBA Deficiency: a Single-Center Experience. 61
28956255 2017
43
Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation. 61
28611475 2017
44
Immunological phenotype of the murine Lrba knockout. 61
28652580 2017
45
New therapeutic approach by sirolimus for enteropathy treatment in patients with LRBA deficiency. 61
28884992 2017
46
Inflammatory bowel disease caused by primary immunodeficiencies-Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm. 61
28513998 2017
47
Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study. 61
28512785 2017
48
Multifocal gastric adenocarcinoma in a patient with LRBA deficiency. 61
28720148 2017
49
An Update on the Use of Immunomodulators in Primary Immunodeficiencies. 61
27873163 2017
50
Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis? 61
28134088 2017

Variations for Immunodeficiency, Common Variable, 8, with Autoimmunity

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 8, with Autoimmunity:

6 (show top 50) (show all 383) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRBA NC_000004.12:g.(?_150588028)_(150735386_?)deldeletion Pathogenic 473163 4:151509180-151656538 4:150588028-150735386
2 LRBA NC_000004.12:g.(?_150310209)_(150350179_?)deldeletion Pathogenic 584033 4:151231361-151271331 4:150310209-150350179
3 LRBA NM_001364905.1(LRBA):c.3811C>T (p.Arg1271Ter)SNV Pathogenic 574254 rs1560914625 4:151773051-151773051 4:150851899-150851899
4 LRBA NM_001364905.1(LRBA):c.2563_2564delinsTG (p.Glu855Ter)indel Pathogenic 571049 rs1560938296 4:151789343-151789344 4:150868191-150868192
5 LRBA NM_001364905.1(LRBA):c.8332C>T (p.Arg2778Ter)SNV Pathogenic 648944 4:151199141-151199141 4:150277989-150277989
6 LRBA NM_001364905.1(LRBA):c.7007G>A (p.Trp2336Ter)SNV Pathogenic 663178 4:151356775-151356775 4:150435623-150435623
7 LRBA NM_001364905.1(LRBA):c.4_16dup (p.Asn6delinsSerTer)duplication Pathogenic 540378 rs1554020278 4:151935778-151935779 4:151014626-151014627
8 LRBA NC_000004.12:g.(?_150415418)_(150817277_?)deldeletion Pathogenic 832622 4:151336570-151738429
9 LRBA NC_000004.12:g.(?_150683531)_(150761867_?)deldeletion Pathogenic 832311 4:151604683-151683019
10 LRBA NC_000004.12:g.(?_150735238)_(150735386_?)deldeletion Pathogenic 831876 4:151656390-151656538
11 LRBA NC_000004.12:g.(?_150761763)_(150761867_?)deldeletion Pathogenic 833337 4:151682915-151683019
12 LRBA NC_000004.12:g.(?_150893032)_(150897838_?)deldeletion Pathogenic 832310 4:151814184-151818990
13 LRBA NM_001364905.1(LRBA):c.6709del (p.Trp2237fs)deletion Pathogenic 802092 4:151388896-151388896 4:150467744-150467744
14 LRBA NM_001364905.1(LRBA):c.2963del (p.Asn988fs)deletion Pathogenic 864696 4:151773899-151773899 4:150852747-150852747
15 LRBA NM_001364905.1(LRBA):c.1931dup (p.Arg645fs)duplication Pathogenic 863113 4:151818963-151818964 4:150897811-150897812
16 LRBA NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser)SNV Pathogenic 35455 rs199469663 4:151223857-151223857 4:150302705-150302705
17 LRBA NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter)SNV Pathogenic 35456 rs199469662 4:151749456-151749456 4:150828304-150828304
18 LRBA NM_001364905.1(LRBA):c.175G>T (p.Glu59Ter)SNV Pathogenic 35457 rs199469664 4:151935620-151935620 4:151014468-151014468
19 LRBA NC_000004.10:g.152111739_152222852deldeletion Pathogenic 35458 4:151892289-152003402 4:150971137-151082250
20 LRBA NM_001364905.1(LRBA):c.6620_6621GA[2] (p.Glu2208fs)short repeat Pathogenic 162666 rs727503779 4:151392818-151392819 4:150471666-150471667
21 LRBA NM_001364905.1(LRBA):c.2032C>T (p.Gln678Ter)SNV Pathogenic 162667 rs727503780 4:151817581-151817581 4:150896429-150896429
22 LRBA NM_001364905.1(LRBA):c.6607C>T (p.Arg2203Ter)SNV Pathogenic/Likely pathogenic 809688 4:151392836-151392836 4:150471684-150471684
23 LRBA NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs)duplication Likely pathogenic 804448 4:151203772-151203773 4:150282620-150282621
24 LRBA NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs)deletion Likely pathogenic 804449 4:151231390-151231394 4:150310238-150310242
25 LRBA NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg)SNV Likely pathogenic 802091 4:151223915-151223915 4:150302763-150302763
26 LRBA NM_001364905.1(LRBA):c.5645+2T>ASNV Likely pathogenic 661469 4:151682933-151682933 4:150761781-150761781
27 LRBA NM_001364905.1(LRBA):c.6445_6446AG[1] (p.Arg2149fs)short repeat Likely pathogenic 626223 rs1561254290 4:151412070-151412071 4:150490918-150490919
28 LRBA NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter)SNV Likely pathogenic 828107 4:151773786-151773786 4:150852634-150852634
29 LRBA NM_001364905.1(LRBA):c.5519-1G>ASNV Likely pathogenic 859600 4:151719295-151719295 4:150798143-150798143
30 LRBA NM_001364905.1(LRBA):c.1924+2T>ASNV Likely pathogenic 834587 4:151821199-151821199 4:150900047-150900047
31 LRBA NM_001364905.1(LRBA):c.2340A>G (p.Thr780=)SNV Conflicting interpretations of pathogenicity 289382 rs79392371 4:151792524-151792524 4:150871372-150871372
32 LRBA NM_001364905.1(LRBA):c.6322G>A (p.Asp2108Asn)SNV Conflicting interpretations of pathogenicity 197442 rs142598024 4:151509208-151509208 4:150588056-150588056
33 LRBA NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn)SNV Conflicting interpretations of pathogenicity 197550 rs151286835 4:151357910-151357910 4:150436758-150436758
34 LRBA NM_001364905.1(LRBA):c.787C>G (p.Leu263Val)SNV Conflicting interpretations of pathogenicity 198546 rs143625481 4:151837660-151837660 4:150916508-150916508
35 LRBA NM_001364905.1(LRBA):c.5004G>A (p.Pro1668=)SNV Conflicting interpretations of pathogenicity 284655 rs775567440 4:151749499-151749499 4:150828347-150828347
36 LRBA NM_001364905.1(LRBA):c.1713C>T (p.His571=)SNV Conflicting interpretations of pathogenicity 284747 rs145812385 4:151827032-151827032 4:150905880-150905880
37 LRBA NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)SNV Conflicting interpretations of pathogenicity 287150 rs116355217 4:151829580-151829580 4:150908428-150908428
38 LRBA NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)SNV Conflicting interpretations of pathogenicity 287379 rs145709687 4:151186882-151186882 4:150265730-150265730
39 LRBA NM_001364905.1(LRBA):c.4338A>G (p.Leu1446=)SNV Conflicting interpretations of pathogenicity 593261 rs201059532 4:151769971-151769971 4:150848819-150848819
40 LRBA NM_001364905.1(LRBA):c.2637G>A (p.Lys879=)SNV Conflicting interpretations of pathogenicity 594578 rs138956153 4:151788952-151788952 4:150867800-150867800
41 LRBA NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro)SNV Conflicting interpretations of pathogenicity 439869 rs62346982 4:151242409-151242409 4:150321257-150321257
42 LRBA NM_001364905.1(LRBA):c.3350G>T (p.Gly1117Val)SNV Conflicting interpretations of pathogenicity 439871 rs35977354 4:151773512-151773512 4:150852360-150852360
43 LRBA NM_001364905.1(LRBA):c.3207C>A (p.Gly1069=)SNV Conflicting interpretations of pathogenicity 502705 rs762031957 4:151773655-151773655 4:150852503-150852503
44 LRBA NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser)SNV Conflicting interpretations of pathogenicity 540408 rs17027133 4:151749473-151749473 4:150828321-150828321
45 LRBA NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val)SNV Conflicting interpretations of pathogenicity 540409 rs114610541 4:151753107-151753107 4:150831955-150831955
46 LRBA NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)SNV Conflicting interpretations of pathogenicity 644705 4:151604718-151604718 4:150683566-150683566
47 LRBA NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr)SNV Conflicting interpretations of pathogenicity 625973 rs148385798 4:151935601-151935601 4:151014449-151014449
48 LRBA NM_001364905.1(LRBA):c.1291T>C (p.Cys431Arg)SNV Uncertain significance 802093 4:151829880-151829880 4:150908728-150908728
49 LRBA NM_001364905.1(LRBA):c.8450C>T (p.Ala2817Val)SNV Uncertain significance 809687 4:151199023-151199023 4:150277871-150277871
50 LRBA NM_001364905.1(LRBA):c.2938C>A (p.Pro980Thr)SNV Uncertain significance 863902 4:151773924-151773924 4:150852772-150852772

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency, Common Variable, 8, with Autoimmunity:

73
# Symbol AA change Variation ID SNP ID
1 LRBA p.Ile2657Ser VAR_068690 rs199469663

Expression for Immunodeficiency, Common Variable, 8, with Autoimmunity

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 8, with Autoimmunity.

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GO Terms for Immunodeficiency, Common Variable, 8, with Autoimmunity

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