MCID: BCL002
MIFTS: 43

B Cell Deficiency

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for B Cell Deficiency

MalaCards integrated aliases for B Cell Deficiency:

Name: B Cell Deficiency 12 15
Immunoglobulin Heavy Chain Deficiency 12 58 71
Immunoglobulin Heavy Chain Deletion 12
B Cell Deficiencies 12
Humoral Immune Defect 71

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:2115
ICD9CM 34 279.03
ICD10 via Orphanet 33 D80.8
UMLS via Orphanet 72 C0398692
Orphanet 58 ORPHA169110
UMLS 71 C0154276 C0398692 C0522274

Summaries for B Cell Deficiency

Disease Ontology : 12 A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly.

MalaCards based summary : B Cell Deficiency, also known as immunoglobulin heavy chain deficiency, is related to agammaglobulinemia and selective immunoglobulin deficiency disease. An important gene associated with B Cell Deficiency is IGLL1 (Immunoglobulin Lambda Like Polypeptide 1), and among its related pathways/superpathways are ERK Signaling and Innate Immune System. The drugs Fludarabine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and bone, and related phenotypes are hematopoietic system and cellular

Wikipedia : 74 Humoral immune deficiencies are conditions which cause impairment of humoral immunity, which can lead to... more...

Related Diseases for B Cell Deficiency

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

(show top 50) (show all 427)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia 32.8 TEC IGLL1 ICOSLG CD40LG CD19 BTK
2 selective immunoglobulin deficiency disease 32.3 TNFRSF13B SH2D1A ICOSLG CD8A CD40LG
3 immunoglobulin alpha deficiency 31.6 TNFRSF13C TNFRSF13B ICOSLG CD8A CD40LG CD4
4 agammaglobulinemia, x-linked 30.7 TEC SH2D1A ICOSLG CD40LG BTK
5 severe combined immunodeficiency 30.6 IRF4 ICOSLG CD4 CD27 CD19 CCR6
6 autoimmune disease 30.5 TNFRSF13C TNFRSF13B STAT3 ICOSLG CD40LG CCR6
7 neuroretinitis 30.5 CD40LG CD4
8 nervous system disease 30.4 IRF4 ICOSLG CD4 CCR6
9 giardiasis 30.3 CD8A CD40LG CD4
10 cryptococcosis 30.2 CD8A CD4 CCR6
11 pneumocystosis 30.2 CD8A CD40LG CD4 CCR6
12 lymphopenia 30.2 TRNT1 IKZF1 ICOSLG CCR6 BTK
13 systemic scleroderma 30.0 ICOSLG CD8A CD40LG CD4 CCR6
14 t-cell lymphoblastic leukemia/lymphoma 30.0 STAT3 IRF4 IKZF1 CD4 CCR6
15 bacterial infectious disease 30.0 ICOSLG CD8A CD40LG CD4 CCR6 BTK
16 diabetes mellitus, type i 29.9 ICOSLG CD8A CD40LG CD4 CCR6
17 pancytopenia 29.9 SH2D1A IKZF1 CD8A CD40LG CD4 CD19
18 common variable immunodeficiency 29.8 TNFRSF13C TNFRSF13B STAT3 SH2D1A PRKCD NFKB2
19 multiple sclerosis 29.7 TNFRSF13C STAT3 CD8A CD40LG CD4 CD27
20 t cell deficiency 29.6 ICOSLG DOCK8 CD8A CD40LG CD4 CD27
21 autoimmune lymphoproliferative syndrome 29.4 STAT3 SH2D1A PRKCD ICOSLG CD8A CD40LG
22 immune deficiency disease 29.4 TNFRSF13B TEC SH2D1A IRF4 ICOSLG CD40LG
23 autoimmune lymphoproliferative syndrome, type iii 11.4
24 lambda 5 deficiency 11.1
25 immunoglobulin beta deficiency 11.1
26 primary agammaglobulinemia 10.7 TNFRSF13C TNFRSF13B
27 mu chain disease 10.6 IGLL1 CD40LG
28 transient hypogammaglobulinemia 10.6 TNFRSF13B CD40LG CD19
29 selective igg deficiency disease 10.6 TNFRSF13C TNFRSF13B CD40LG
30 immunodeficiency, common variable, 2 10.6 TNFRSF13C TNFRSF13B CD19
31 immunoglobulin a deficiency 1 10.6 TNFRSF13B CD40LG BTK
32 american histoplasmosis 10.6 CD40LG CD4
33 syphilitic meningitis 10.6 CD40LG CD4
34 immunodeficiency with hyper-igm, type 4 10.6 TNFRSF13C CD40LG CD27
35 paralytic poliomyelitis 10.6 CD40LG CD4 BTK
36 bird fancier's lung 10.6 IGLL1 CD8A CD4
37 cll/sll 10.6 CD19 CCR6 BTK
38 autoimmune peripheral neuropathy 10.6 ICOSLG CD40LG CD4
39 mikulicz disease 10.6 CD40LG CD4 CCR6
40 chancroid 10.6 CD40LG CD4 CCR6
41 autoimmune neuropathy 10.6 ICOSLG CD40LG CD4
42 blastomycosis 10.6 CD40LG CD4 CCR6
43 scleral disease 10.6 CD40LG CD4 CCR6
44 congenital hypogammaglobulinemia 10.6 IGLL1 CD40LG CD19 BTK
45 cork-handlers' disease 10.6 CD8A CD40LG CD4
46 cerebral lymphoma 10.6 CD40LG CD4 CD19
47 immunodeficiency with hyper-igm, type 2 10.6 TNFRSF13B ICOSLG CD40LG
48 legume allergy 10.6 ICOSLG CD4 CCR6
49 fruit allergy 10.6 ICOSLG CD4 CCR6
50 chronic conjunctivitis 10.6 ICOSLG CD4 CCR6

Graphical network of the top 20 diseases related to B Cell Deficiency:



Diseases related to B Cell Deficiency

Symptoms & Phenotypes for B Cell Deficiency

MGI Mouse Phenotypes related to B Cell Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.11 BTK CCR6 CD19 CD27 CD4 CD40LG
2 cellular MP:0005384 10.07 BTK CD19 CD27 CD4 CD40LG CD8A
3 homeostasis/metabolism MP:0005376 9.8 BTK CCR6 CD19 CD4 CD40LG IRF4
4 immune system MP:0005387 9.55 BTK CCR6 CD19 CD27 CD4 CD40LG

Drugs & Therapeutics for B Cell Deficiency

Drugs for B Cell Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
2
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
3 Alkylating Agents Phase 1
4 Immunosuppressive Agents Phase 1
5 Interleukin-2 Phase 1
6 Immunologic Factors Phase 1
7 Antirheumatic Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I Study of Adoptive Transfer of Autologous Tumour Antigen-Specific T Cells With Pre-conditioning Chemotherapy and Intravenous IL2 in Patients With CD19 Positive Malignancy Unknown status NCT01493453 Phase 1

Search NIH Clinical Center for B Cell Deficiency

Genetic Tests for B Cell Deficiency

Anatomical Context for B Cell Deficiency

MalaCards organs/tissues related to B Cell Deficiency:

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

Publications for B Cell Deficiency

Articles related to B Cell Deficiency:

(show top 50) (show all 225)
# Title Authors PMID Year
1
Transcriptomics and proteomics reveal a cooperation between interferon and T-helper 17 cells in neuromyelitis optica. 61
32503977 2020
2
Primary immunodeficiency disorders in children with Non-Cystic Fibrosis Bronchiectasis. 61
32372587 2020
3
Lymphocyte Subgroups and KREC Numbers in Common Variable Immunodeficiency: A Single Center Study. 61
32056073 2020
4
B Cells Inhibit CD4+ T Cell-Mediated Immunity to Brucella Infection in a Major Histocompatibility Complex Class II-Dependent Manner. 61
32071068 2020
5
Acquired Immunity Is Not Essential for Radiation-Induced Heart Dysfunction but Exerts a Complex Impact on Injury. 61
32316187 2020
6
Myocardial B cells are a subset of circulating lymphocytes with delayed transit through the heart. 61
31945014 2020
7
Tonsillar granuloma associated with hypogammaglobulinemia. 61
32514274 2020
8
Activated CD8+ T Cells Cause Long-Term Neurological Impairment after Traumatic Brain Injury in Mice. 61
31665632 2019
9
Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity. 61
30500415 2019
10
B1 cells protect against Schistosoma japonicum-induced liver inflammation and fibrosis by controlling monocyte infiltration. 61
31194740 2019
11
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. 61
30758723 2019
12
B-Cell Deficiency Lowers Blood Pressure in Mice. 61
30636551 2019
13
Inhibition of B cell-dependent lymphoid follicle formation prevents lymphocytic bronchiolitis after lung transplantation. 61
30728330 2019
14
Enteroviral Encephalitis in a Child With CNS Relapse of Burkitt Leukemia Treated With Rituximab. 61
29315142 2019
15
Gut Antibody Deficiency in a Mouse Model of CVID Results in Spontaneous Development of a Gluten-Sensitive Enteropathy. 61
31708923 2019
16
A Novel CD3G Mutation in a Taiwanese Patient With Normal T Regulatory Function Presenting With the CVID Phenotype Free of Autoimmunity-Analysis of all Genotypes and Phenotypes. 61
31921117 2019
17
Evans Syndrome in Childhood: Long Term Follow-Up and the Evolution in Primary Immunodeficiency or Rheumatological Disease. 61
31396497 2019
18
B Cell and CD4 T Cell Interactions Promote Development of Atherosclerosis. 61
31998318 2019
19
Gain-of-function IKBKB mutation causes human combined immune deficiency. 61
30337470 2018
20
Phospholipid flippases enable precursor B cells to flee engulfment by macrophages. 61
30355768 2018
21
Initiation of LPS-induced pulmonary dysfunction and its recovery occur independent of T cells. 61
30466430 2018
22
Restoration of regulatory B cell deficiency following alemtuzumab therapy in patients with relapsing multiple sclerosis. 61
30373595 2018
23
Altered gastrointestinal motility involving autoantibodies in the experimental autoimmune encephalomyelitis model of multiple sclerosis. 61
29644797 2018
24
Embolizing pulmonary aspergillosis, mycobacterial & aspergillous splenic abscess and cytomegalovirus co-infection following steroid induced immunosuppression: a case report. 61
30081818 2018
25
The Ikaros family in lymphocyte development. 61
29278858 2018
26
Inherited Immunodeficiency: A New Association With Early-Onset Childhood Panniculitis. 61
29610179 2018
27
MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia. 61
29540340 2018
28
Complete B Cell Deficiency Reduces Allograft Inflammation and Intragraft Macrophages in a Rat Kidney Transplant Model. 61
29215459 2018
29
B-cell Deficiency: A De Novo IKZF1 Patient and Review of the Literature. 61
29461212 2018
30
B cell subset distribution is altered in patients with severe periodontitis. 61
29447240 2018
31
Humoral Immune Reconstitution Kinetics after Allogeneic Hematopoietic Stem Cell Transplantation in Children: A Maturation Block of IgM Memory B Cells May Lead to Impaired Antibody Immune Reconstitution. 61
28495643 2017
32
Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study. 61
28512785 2017
33
Comprehensive validation of T- and B-cell deficiency in rag1-null zebrafish: Implication for the robust innate defense mechanisms of teleosts. 61
28790360 2017
34
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations. 61
27939403 2017
35
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. 61
28597146 2017
36
Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience. 61
27001505 2017
37
The mast cell-B cell axis in lung vascular remodeling and pulmonary hypertension. 61
28235950 2017
38
The Impact of IL-17 in Atherosclerosis. 61
28425862 2017
39
Interleukin-33-induced expression of PIBF1 by decidual B cells protects against preterm labor. 61
27918564 2017
40
Antigen presentation by B cells guides programing of memory CD4+ T-cell responses to a TLR4-agonist containing vaccine in mice. 61
27701733 2016
41
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome. 61
27825976 2016
42
Common variable immunodeficiency, impaired neurological development and reduced numbers of T regulatory cells in a 10-year-old boy with a STAT1 gain-of-function mutation. 61
27063510 2016
43
Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity. 61
27303042 2016
44
Regulatory T and B lymphocytes in a spontaneous autoimmune polyneuropathy. 61
26671281 2016
45
Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation. 61
26745254 2016
46
Differentially correlated genes in co-expression networks control phenotype transitions. 61
28163897 2016
47
Spectrum of Phenotypes Associated with Mutations in LRBA. 61
26707784 2016
48
Circulating Human Neonatal Naïve B Cells are Deficient in CD73 Impairing Purine Salvage. 61
27066009 2016
49
Impaired toll-like receptor signalling in peripheral B cells from newly diagnosed type-2 diabetic subjects. 61
25959254 2015
50
Cell extrinsic alterations in splenic B cell maturation in Flt3-ligand knockout mice. 61
26029370 2015

Variations for B Cell Deficiency

Expression for B Cell Deficiency

Search GEO for disease gene expression data for B Cell Deficiency.

Pathways for B Cell Deficiency

Pathways related to B Cell Deficiency according to GeneCards Suite gene sharing:

(show all 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 TNFRSF13C TNFRSF13B STAT3 PRKCD CD40LG CD4
2
Show member pathways
13.65 TNFRSF13C TNFRSF13B TEC STAT3 SH2D1A PRKCD
3
Show member pathways
13.62 TNFRSF13C TNFRSF13B STAT3 PRKCD CD40LG CD4
4
Show member pathways
13.28 TNFRSF13C TNFRSF13B TEC STAT3 PRKCD CD40LG
5
Show member pathways
13.23 TNFRSF13C TNFRSF13B PRKCD CD40LG CD4 CD27
6
Show member pathways
13.21 TNFRSF13C TNFRSF13B TEC STAT3 PRKCD NFKB2
7
Show member pathways
12.8 TNFRSF13C TNFRSF13B ICOSLG CD8A CD40LG CD4
8
Show member pathways
12.61 STAT3 PRKCD CD40LG CD4 CD27
9
Show member pathways
12.57 NFKB2 ICOSLG CD40LG CD4 BTK
10
Show member pathways
12.53 TNFRSF13C TNFRSF13B PRKCD CD40LG CD27
11
Show member pathways
12.45 TEC STAT3 PRKCD IRF4 CD8A CD40LG
12
Show member pathways
12.39 PRKCD NFKB2 CD4 CD19 BTK
13
Show member pathways
12.31 TEC PRKCD IRF4 CD19 BTK
14
Show member pathways
12.29 TEC PRKCD ICOSLG CD40LG CD4
15
Show member pathways
12.26 STAT3 PRKCD NFKB2 BTK
16 12.17 TEC STAT3 SH2D1A NFKB2 IRF4 IKZF1
17 12.08 ICOSLG CD8A CD40LG CD4
18 12.02 SH2D1A CD8A CD40LG CD19
19
Show member pathways
11.93 STAT3 NFKB2 CD8A CD4
20 11.87 TNFRSF13C NFKB2 CD40LG BTK
21 11.84 PRKCD NFKB2 CD4 BTK
22
Show member pathways
11.81 TEC STAT3 BTK
23
Show member pathways
11.79 STAT3 NFKB2 IRF4
24
Show member pathways
11.71 TNFRSF13C TNFRSF13B CD40LG CD27
25
Show member pathways
11.69 IRF4 IKZF1 CD40LG
26
Show member pathways
11.67 TNFRSF13B NFKB2 CD40LG
27 11.62 IRF4 IKZF1 CD8A CD4 CCR6
28 11.52 IRF4 IKZF1 CD8A CD4 CD19
29 11.43 TEC STAT3 NFKB2 BTK
30 10.81 TNFRSF13C TNFRSF13B IGLL1 CD8A CD40LG CD4
31 10.77 STAT3 IRF4 IKZF1

GO Terms for B Cell Deficiency

Cellular components related to B Cell Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.8 TNFRSF13C TNFRSF13B TEC STAT3 PRKCD ICOSLG
2 integral component of plasma membrane GO:0005887 9.7 TNFRSF13B CD8A CD40LG CD4 CD27 CD19
3 external side of plasma membrane GO:0009897 9.28 TNFRSF13C IGLL1 ICOSLG CD8A CD40LG CD4

Biological processes related to B Cell Deficiency according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.92 IGLL1 CD8A CD40LG CD4 CCR6
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.73 STAT3 NFKB2 CD40LG BTK
3 regulation of immune response GO:0050776 9.72 SH2D1A ICOSLG CD8A CD40LG CD19
4 B cell receptor signaling pathway GO:0050853 9.71 TEC IGLL1 CD19 BTK
5 positive regulation of T cell proliferation GO:0042102 9.67 TNFRSF13C CD40LG CD4
6 tumor necrosis factor-mediated signaling pathway GO:0033209 9.67 TNFRSF13C TNFRSF13B CD40LG CD27
7 immune system process GO:0002376 9.65 TNFRSF13C TNFRSF13B TEC SH2D1A IRF4 ICOSLG
8 T cell costimulation GO:0031295 9.63 TNFRSF13C ICOSLG CD40LG
9 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.56 IRF4 CD4
10 positive regulation of B cell differentiation GO:0045579 9.55 CD27 BTK
11 interleukin-15-mediated signaling pathway GO:0035723 9.54 STAT3 CD4
12 negative regulation of T cell apoptotic process GO:0070233 9.51 DOCK8 CD27
13 T-helper 17 cell lineage commitment GO:0072540 9.48 STAT3 IRF4
14 T cell activation GO:0042110 9.46 IRF4 ICOSLG CD8A CD4
15 immunoglobulin mediated immune response GO:0016064 9.43 PRKCD CD27 CD19
16 adaptive immune response GO:0002250 9.28 TNFRSF13C TNFRSF13B TEC SH2D1A ICOSLG CD8A

Molecular functions related to B Cell Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.8 TEC PRKCD BTK

Sources for B Cell Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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