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 Innate Immune System and Akt Signaling. 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 409)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia 32.6 TEC IGLL1 ICOSLG CR2 CD40LG CD19
2 selective immunoglobulin deficiency disease 32.3 TNFRSF13B SH2D1A ICOSLG CD8A CD40LG
3 immunoglobulin alpha deficiency 31.3 TNFRSF13C TNFRSF13B ICOSLG CD8A CD40LG CD4
4 keratitis, hereditary 30.7 CD8A CD4 CCR6
5 agammaglobulinemia, x-linked 30.7 TEC SH2D1A ICOSLG CD40LG BTK
6 neuroretinitis 30.6 CD40LG CD4
7 severe combined immunodeficiency 30.5 IRF4 ICOSLG CD4 CD27 CD19 CCR6
8 autoimmune disease 30.5 TNFRSF13C TNFRSF13B ICOSLG CR2 CD40LG CCR6
9 giardiasis 30.3 CD8A CD40LG CD4
10 cryptococcosis 30.3 CD8A CD4 CCR6
11 nervous system disease 30.2 RNU4ATAC IRF4 ICOSLG CD4 CCR6
12 lymphopenia 30.2 IKZF1 ICOSLG CCR6 BTK
13 pneumocystosis 30.2 CD8A CD40LG CD4 CCR6
14 combined t cell and b cell immunodeficiency 30.1 IRF4 ICOSLG CD8A CD40LG CD4 CD19
15 acquired immunodeficiency syndrome 30.1 CR2 CD40LG CD4 CCR6
16 systemic scleroderma 30.0 ICOSLG CD8A CD40LG CD4 CCR6
17 t cell deficiency 30.0 CD8A CD40LG CD4 CD27 CCR6
18 bacterial infectious disease 29.9 ICOSLG CD8A CD40LG CD4 CCR6 BTK
19 diabetes mellitus, insulin-dependent 29.9 ICOSLG CD8A CD40LG CD4 CCR6
20 multiple sclerosis 29.8 TNFRSF13C CD8A CD40LG CD4 CD27 CCR6
21 pancytopenia 29.7 SH2D1A IRF4 IKZF1 CD8A CD40LG CD4
22 autoimmune lymphoproliferative syndrome 29.6 SH2D1A PRKCD ICOSLG CD8A CD40LG CD4
23 common variable immunodeficiency 29.4 TNFRSF13C TNFRSF13B SH2D1A PRKCD NFKB2 IRF4
24 immune deficiency disease 28.9 TNFRSF13B TEC SH2D1A IRF4 ICOSLG CR2
25 autoimmune lymphoproliferative syndrome, type iii 11.4
26 lambda 5 deficiency 11.1
27 immunoglobulin beta deficiency 11.1
28 primary agammaglobulinemia 10.7 TNFRSF13C TNFRSF13B
29 mu chain disease 10.7 IGLL1 CD40LG
30 riedel's fibrosing thyroiditis 10.7 CD40LG CD4
31 monoclonal paraproteinemia 10.6 CD40LG CD19
32 waldenstroem's macroglobulinemia 10.6 CD40LG CD19 BTK
33 ventilation pneumonitis 10.6 CD8A CD4
34 diffuse infiltrative lymphocytosis syndrome 10.6 CD8A CD4
35 latent syphilis 10.6 CD40LG CD4
36 gastroduodenitis 10.6 CD40LG CD4
37 autoimmune lymphoproliferative syndrome, type iia 10.6 CD8A CD4
38 primary syphilis 10.6 CD40LG CD4
39 mikulicz disease 10.6 ICOSLG CD4 CCR6
40 bird fancier's lung 10.6 IGLL1 CD8A CD4
41 asymptomatic neurosyphilis 10.6 CD40LG CD4
42 cll/sll 10.6 CD19 CCR6 BTK
43 chancroid 10.6 CD40LG CD4 CCR6
44 chromosome 14q11-q22 deletion syndrome 10.6 CD8A CD4
45 isolated growth hormone deficiency type iii 10.6 CD40LG BTK
46 adult acute lymphocytic leukemia 10.6 CD8A CD4 CCR6
47 diabetes mellitus, insulin-dependent, 23 10.6 CD8A CD4
48 autoimmune neuropathy 10.6 ICOSLG CD40LG CD4
49 tertiary neurosyphilis 10.6 CD40LG CD4
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 10.09 AICDA BTK CCR6 CD19 CD27 CD4
2 cellular MP:0005384 10 AICDA BTK CD19 CD27 CD4 CD40LG
3 homeostasis/metabolism MP:0005376 9.8 AICDA BTK CCR6 CD19 CD4 CD40LG
4 immune system MP:0005387 9.55 AICDA BTK CCR6 CD19 CD27 CD4

Drugs & Therapeutics for B Cell Deficiency

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

(show all 8)
# 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 Interleukin-2 Phase 1
4 Alkylating Agents Phase 1
5 Antirheumatic Agents Phase 1
6 Immunosuppressive Agents Phase 1
7 Antimetabolites Phase 1
8 Immunologic Factors 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, Thyroid, Skin, Lung

Publications for B Cell Deficiency

Articles related to B Cell Deficiency:

(show top 50) (show all 219)
# Title Authors PMID Year
1
Myocardial B cells are a subset of circulating lymphocytes with delayed transit through the heart. 61
31945014 2020
2
Activated CD8+ T Cells Cause Long-Term Neurological Impairment after Traumatic Brain Injury in Mice. 61
31665632 2019
3
Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity. 61
30500415 2019
4
B1 cells protect against Schistosoma japonicum-induced liver inflammation and fibrosis by controlling monocyte infiltration. 61
31194740 2019
5
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. 61
30758723 2019
6
B-Cell Deficiency Lowers Blood Pressure in Mice. 61
30636551 2019
7
Inhibition of B cell-dependent lymphoid follicle formation prevents lymphocytic bronchiolitis after lung transplantation. 61
30728330 2019
8
Enteroviral Encephalitis in a Child With CNS Relapse of Burkitt Leukemia Treated With Rituximab. 61
29315142 2019
9
Gut Antibody Deficiency in a Mouse Model of CVID Results in Spontaneous Development of a Gluten-Sensitive Enteropathy. 61
31708923 2019
10
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
11
Evans Syndrome in Childhood: Long Term Follow-Up and the Evolution in Primary Immunodeficiency or Rheumatological Disease. 61
31396497 2019
12
B Cell and CD4 T Cell Interactions Promote Development of Atherosclerosis. 61
31998318 2019
13
Gain-of-function IKBKB mutation causes human combined immune deficiency. 61
30337470 2018
14
Phospholipid flippases enable precursor B cells to flee engulfment by macrophages. 61
30355768 2018
15
Initiation of LPS-induced pulmonary dysfunction and its recovery occur independent of T cells. 61
30466430 2018
16
Restoration of regulatory B cell deficiency following alemtuzumab therapy in patients with relapsing multiple sclerosis. 61
30373595 2018
17
Altered gastrointestinal motility involving autoantibodies in the experimental autoimmune encephalomyelitis model of multiple sclerosis. 61
29644797 2018
18
Embolizing pulmonary aspergillosis, mycobacterial & aspergillous splenic abscess and cytomegalovirus co-infection following steroid induced immunosuppression: a case report. 61
30081818 2018
19
The Ikaros family in lymphocyte development. 61
29278858 2018
20
Inherited Immunodeficiency: A New Association With Early-Onset Childhood Panniculitis. 61
29610179 2018
21
MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia. 61
29540340 2018
22
Complete B Cell Deficiency Reduces Allograft Inflammation and Intragraft Macrophages in a Rat Kidney Transplant Model. 61
29215459 2018
23
B-cell Deficiency: A De Novo IKZF1 Patient and Review of the Literature. 61
29461212 2018
24
B cell subset distribution is altered in patients with severe periodontitis. 61
29447240 2018
25
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
26
Comprehensive validation of T- and B-cell deficiency in rag1-null zebrafish: Implication for the robust innate defense mechanisms of teleosts. 61
28790360 2017
27
Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study. 61
28512785 2017
28
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations. 61
27939403 2017
29
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. 61
28597146 2017
30
Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience. 61
27001505 2017
31
The mast cell-B cell axis in lung vascular remodeling and pulmonary hypertension. 61
28235950 2017
32
The Impact of IL-17 in Atherosclerosis. 61
28425862 2017
33
Interleukin-33-induced expression of PIBF1 by decidual B cells protects against preterm labor. 61
27918564 2017
34
Antigen presentation by B cells guides programing of memory CD4+ T-cell responses to a TLR4-agonist containing vaccine in mice. 61
27701733 2016
35
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome. 61
27825976 2016
36
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
37
Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity. 61
27303042 2016
38
Regulatory T and B lymphocytes in a spontaneous autoimmune polyneuropathy. 61
26671281 2016
39
Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation. 61
26745254 2016
40
Spectrum of Phenotypes Associated with Mutations in LRBA. 61
26707784 2016
41
Differentially correlated genes in co-expression networks control phenotype transitions. 61
28163897 2016
42
Circulating Human Neonatal Naïve B Cells are Deficient in CD73 Impairing Purine Salvage. 61
27066009 2016
43
Impaired toll-like receptor signalling in peripheral B cells from newly diagnosed type-2 diabetic subjects. 61
25959254 2015
44
Cell extrinsic alterations in splenic B cell maturation in Flt3-ligand knockout mice. 61
26029370 2015
45
Additional B-cell deficiency does not affect growth and angiogenesis of ectopic human endometrium in T-cell-deficient endometriosis mouse models during long-term culture. 61
25270508 2014
46
Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100. 61
25237204 2014
47
NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene. 61
25038527 2014
48
Bone marrow T-cell infiltration during acute GVHD is associated with delayed B-cell recovery and function after HSCT. 61
24833353 2014
49
Multiple potential roles for B cells in atherosclerosis. 61
24813455 2014
50
Leukocyte β7 integrin targeted by Krüppel-like factors. 61
25015818 2014

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 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 TNFRSF13C TNFRSF13B TEC SH2D1A PRKCD NFKB2
2
Show member pathways
13.3 TNFRSF13C TNFRSF13B TEC PRKCD CD40LG CD4
3
Show member pathways
13.22 TNFRSF13C TNFRSF13B PRKCD CD40LG CD4 CD27
4
Show member pathways
13.22 TNFRSF13C TNFRSF13B TEC PRKCD NFKB2 IRF4
5
Show member pathways
12.72 TNFRSF13C TNFRSF13B ICOSLG CD8A CD40LG CD4
6
Show member pathways
12.59 PRKCD CR2 CD40LG CD4 CD27
7
Show member pathways
12.55 NFKB2 ICOSLG CD40LG CD4 BTK
8
Show member pathways
12.51 TNFRSF13C TNFRSF13B PRKCD CD40LG CD27
9
Show member pathways
12.5 TEC PRKCD IRF4 CD8A CD40LG CD4
10
Show member pathways
12.34 TNFRSF13C TNFRSF13B NFKB2 CR2
11
Show member pathways
12.29 TEC PRKCD ICOSLG CD40LG CD4
12
Show member pathways
12.27 TEC PRKCD IRF4 CR2 CD19 BTK
13
Show member pathways
12.25 PRKCD CD4 CD19 BTK
14 12.17 TEC SH2D1A NFKB2 IRF4 IKZF1 CD8A
15 12.04 ICOSLG CD8A CD40LG CD4
16 11.99 SH2D1A CD8A CD40LG CD19
17 11.85 TNFRSF13C NFKB2 CD40LG BTK
18 11.82 CR2 CD8A CD4 CD19
19
Show member pathways
11.69 IRF4 IKZF1 CD40LG
20
Show member pathways
11.67 TNFRSF13B NFKB2 CD40LG
21 11.67 IRF4 IKZF1 CD8A CD4 CCR6
22 11.66 PRKCD CD4 BTK
23 11.59 IRF4 CD40LG AICDA
24 11.54 ICOSLG CD40LG CD27
25 11.52 IRF4 IKZF1 CD8A CD4 CD19
26 11.43 TEC NFKB2 BTK
27 11.36 TNFRSF13B CR2 CD40LG CD4 CD27 CD19
28 10.86 TNFRSF13C TNFRSF13B IGLL1 CD8A CD40LG CD4
29 10.75 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 9.77 TNFRSF13C TNFRSF13B TEC PRKCD ICOSLG CR2
2 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 15)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.85 IGLL1 CR2 CD8A CD40LG CD4 CCR6
2 cell surface receptor signaling pathway GO:0007166 9.83 TNFRSF13B CD8A CD4 CD27
3 B cell receptor signaling pathway GO:0050853 9.73 TEC IGLL1 CD19 BTK
4 regulation of immune response GO:0050776 9.72 SH2D1A ICOSLG CD8A CD40LG CD19
5 tumor necrosis factor-mediated signaling pathway GO:0033209 9.71 TNFRSF13C TNFRSF13B CD40LG CD27
6 B cell differentiation GO:0030183 9.69 CR2 CD40LG AICDA
7 positive regulation of T cell proliferation GO:0042102 9.67 TNFRSF13C CD40LG CD4
8 T cell costimulation GO:0031295 9.65 TNFRSF13C ICOSLG CD40LG
9 B cell proliferation GO:0042100 9.63 PRKCD CR2 CD40LG
10 adaptive immune response GO:0002250 9.56 TNFRSF13C TNFRSF13B TEC SH2D1A ICOSLG CD4
11 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.55 IRF4 CD4
12 positive regulation of B cell differentiation GO:0045579 9.54 CD27 BTK
13 T cell activation GO:0042110 9.46 IRF4 ICOSLG CD8A CD4
14 immunoglobulin mediated immune response GO:0016064 9.43 PRKCD CD27 CD19
15 immune system process GO:0002376 9.36 TNFRSF13C TNFRSF13B TEC SH2D1A IRF4 ICOSLG

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
Content
Loading form....