MCID: BCL002
MIFTS: 44

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 59 72
Immunoglobulin Heavy Chain Deletion 12
B Cell Deficiencies 12
Humoral Immune Defect 72

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:2115
ICD9CM 35 279.03
ICD10 via Orphanet 34 D80.8
UMLS via Orphanet 73 C0398692
Orphanet 59 ORPHA169110
UMLS 72 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 selective immunoglobulin deficiency disease and immunoglobulin alpha deficiency. 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 PEDF Induced 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 Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Wikipedia : 75 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 151)
# Related Disease Score Top Affiliating Genes
1 selective immunoglobulin deficiency disease 32.2 TNFRSF13B SH2D1A
2 immunoglobulin alpha deficiency 31.8 TNFRSF13B TGM2 CD40LG
3 agammaglobulinemia 31.6 IGLL1 CR2 CD19 BTK
4 agammaglobulinemia, x-linked 29.6 SH2D1A CD40LG CD40 BTK
5 immune deficiency disease 28.2 TNFRSF13B SH2D1A CD40LG CD40 CD19 BTK
6 common variable immunodeficiency 25.5 TNFRSF13C TNFRSF13B SH2D1A PRKCD NFKB2 CR2
7 autoimmune lymphoproliferative syndrome, type iii 11.4
8 lambda 5 deficiency 11.1
9 immunoglobulin beta deficiency 11.1
10 primary agammaglobulinemia 10.6 TNFRSF13C TNFRSF13B
11 agammaglobulinemia, non-bruton type 10.6 IGLL1 BTK
12 ventilation pneumonitis 10.5 IGLL1 CD4
13 congenital hypogammaglobulinemia 10.4 IGLL1 CD19 BTK
14 immunoglobulin a deficiency 1 10.4 TNFRSF13B CD40LG BTK
15 bird fancier's lung 10.3 IGLL1 CD8A
16 waldenstroem's macroglobulinemia 10.3 CD19 BTK
17 dysgammaglobulinemia 10.3 TNFRSF13B SH2D1A
18 light fixation seizure syndrome 10.2 CD40LG CD40
19 metal allergy 10.2 CD8A CD4
20 polyclonal hypergammaglobulinemia 10.1 CD8A CD4
21 severe combined immunodeficiency 10.1
22 sulfamethoxazole allergy 10.0 CD40LG CD40
23 lymphoproliferative syndrome 10.0 SH2D1A PRKCD CD27
24 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
25 chlamydia 10.0
26 allergic encephalomyelitis 10.0
27 autoimmune disease 10.0
28 lymphocytic choriomeningitis 10.0
29 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.0 SH2D1A CD40LG CD4 BTK
30 keratitis, hereditary 9.9
31 splenomegaly 9.9
32 plasma protein metabolism disease 9.9 CD19 BTK
33 solitary osseous plasmacytoma 9.9 CD27 CD19
34 lobomycosis 9.9 CR2 CD19
35 immunodeficiency with hyper-igm, type 4 9.9 CD40LG CD40 AICDA
36 hashimoto thyroiditis 9.9
37 graft-versus-host disease 9.9
38 allergic hypersensitivity disease 9.9
39 contact dermatitis 9.9
40 allergic contact dermatitis 9.9
41 combined t cell and b cell immunodeficiency 9.9
42 thyroiditis 9.9
43 herpes simplex 9.9
44 hypereosinophilic syndrome 9.9
45 chronic graft versus host disease 9.9
46 cd40 ligand deficiency 9.9 CD40LG CD40 AICDA
47 mature b-cell neoplasm 9.9 SH2D1A CD40 CD19
48 immunodeficiency with hyper-igm, type 3 9.9 CD40LG CD40 AICDA
49 mantle cell lymphoma 9.8 CD40 CD19 BTK
50 bladder lymphoma 9.8 CR2 CD19

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



Diseases related to B Cell Deficiency

Symptoms & Phenotypes for B Cell Deficiency

GenomeRNAi Phenotypes related to B Cell Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.23 CD40LG NFKB2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 BTK CD27 CD40 CD40LG IGLL1 NFKB2

MGI Mouse Phenotypes related to B Cell Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.27 AICDA BTK CD19 CD27 CD4 CD40
2 cellular MP:0005384 10.17 AICDA BTK CD19 CD27 CD4 CD40LG
3 immune system MP:0005387 10.16 AICDA BTK CD19 CD27 CD4 CD40
4 homeostasis/metabolism MP:0005376 10.13 BTK CD19 CD4 CD40 CD40LG CR2
5 endocrine/exocrine gland MP:0005379 10.01 CD4 CD40 CD40LG CD8A IDS NFKB2
6 integument MP:0010771 9.76 AICDA BTK CD19 CD4 CD40LG CD8A
7 mortality/aging MP:0010768 9.73 AICDA BTK CD19 CD4 CD40LG CD8A
8 renal/urinary system MP:0005367 9.32 CD19 CD40 CD40LG CD8A CR2 IDS

Drugs & Therapeutics for B Cell Deficiency

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

(show all 10)
# 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 Immunologic Factors Phase 1
5 Immunosuppressive Agents Phase 1
6 Interleukin-2 Phase 1
7 Antimetabolites Phase 1
8 Antirheumatic Agents Phase 1
9 Antineoplastic Agents, Alkylating Phase 1
10 Antimetabolites, Antineoplastic 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:

41
B Cells, T Cells, Bone, Bone Marrow, Lung, Nk Cells, Liver

Publications for B Cell Deficiency

Articles related to B Cell Deficiency:

(show top 50) (show all 214)
# Title Authors PMID Year
1
Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity. 38
30500415 2019
2
B1 cells protect against Schistosoma japonicum-induced liver inflammation and fibrosis by controlling monocyte infiltration. 38
31194740 2019
3
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. 38
30758723 2019
4
B-Cell Deficiency Lowers Blood Pressure in Mice. 38
30636551 2019
5
Inhibition of B cell-dependent lymphoid follicle formation prevents lymphocytic bronchiolitis after lung transplantation. 38
30728330 2019
6
Enteroviral Encephalitis in a Child With CNS Relapse of Burkitt Leukemia Treated With Rituximab. 38
29315142 2019
7
Evans Syndrome in Childhood: Long Term Follow-Up and the Evolution in Primary Immunodeficiency or Rheumatological Disease. 38
31396497 2019
8
Gain-of-function IKBKB mutation causes human combined immune deficiency. 38
30337470 2018
9
Phospholipid flippases enable precursor B cells to flee engulfment by macrophages. 38
30355768 2018
10
Initiation of LPS-induced pulmonary dysfunction and its recovery occur independent of T cells. 38
30466430 2018
11
Restoration of regulatory B cell deficiency following alemtuzumab therapy in patients with relapsing multiple sclerosis. 38
30373595 2018
12
Altered gastrointestinal motility involving autoantibodies in the experimental autoimmune encephalomyelitis model of multiple sclerosis. 38
29644797 2018
13
Embolizing pulmonary aspergillosis, mycobacterial & aspergillous splenic abscess and cytomegalovirus co-infection following steroid induced immunosuppression: a case report. 38
30081818 2018
14
Inherited Immunodeficiency: A New Association With Early-Onset Childhood Panniculitis. 38
29610179 2018
15
The Ikaros family in lymphocyte development. 38
29278858 2018
16
MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia. 38
29540340 2018
17
Complete B Cell Deficiency Reduces Allograft Inflammation and Intragraft Macrophages in a Rat Kidney Transplant Model. 38
29215459 2018
18
B-cell Deficiency: A De Novo IKZF1 Patient and Review of the Literature. 38
29461212 2018
19
B cell subset distribution is altered in patients with severe periodontitis. 38
29447240 2018
20
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. 38
28495643 2017
21
Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study. 38
28512785 2017
22
Comprehensive validation of T- and B-cell deficiency in rag1-null zebrafish: Implication for the robust innate defense mechanisms of teleosts. 38
28790360 2017
23
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations. 38
27939403 2017
24
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. 38
28597146 2017
25
Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience. 38
27001505 2017
26
The mast cell-B cell axis in lung vascular remodeling and pulmonary hypertension. 38
28235950 2017
27
The Impact of IL-17 in Atherosclerosis. 38
28425862 2017
28
Interleukin-33-induced expression of PIBF1 by decidual B cells protects against preterm labor. 38
27918564 2017
29
Antigen presentation by B cells guides programing of memory CD4+ T-cell responses to a TLR4-agonist containing vaccine in mice. 38
27701733 2016
30
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome. 38
27825976 2016
31
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. 38
27063510 2016
32
Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity. 38
27303042 2016
33
Regulatory T and B lymphocytes in a spontaneous autoimmune polyneuropathy. 38
26671281 2016
34
Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation. 38
26745254 2016
35
Spectrum of Phenotypes Associated with Mutations in LRBA. 38
26707784 2016
36
Differentially correlated genes in co-expression networks control phenotype transitions. 38
28163897 2016
37
Circulating Human Neonatal Naïve B Cells are Deficient in CD73 Impairing Purine Salvage. 38
27066009 2016
38
Impaired toll-like receptor signalling in peripheral B cells from newly diagnosed type-2 diabetic subjects. 38
25959254 2015
39
Cell extrinsic alterations in splenic B cell maturation in Flt3-ligand knockout mice. 38
26029370 2015
40
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. 38
25270508 2014
41
Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100. 38
25237204 2014
42
NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene. 38
25038527 2014
43
Bone marrow T-cell infiltration during acute GVHD is associated with delayed B-cell recovery and function after HSCT. 38
24833353 2014
44
Multiple potential roles for B cells in atherosclerosis. 38
24813455 2014
45
Leukocyte β7 integrin targeted by Krüppel-like factors. 38
25015818 2014
46
Human lymphoid development in the absence of common γ-chain receptor signaling. 38
24771849 2014
47
Respiratory infection and primary immune deficiency - what does the general physician need to know? 38
24999779 2014
48
A glycosylation-dependent CD45RB epitope defines previously unacknowledged CD27⁻IgM(high) B cell subpopulations enriched in young children and after hematopoietic stem cell transplantation. 38
24211716 2013
49
Differential regulation of hepatic organic cation transporter 1, organic anion-transporting polypeptide 1a4, bile-salt export pump, and multidrug resistance-associated protein 2 transporter expression in lymphocyte-deficient mice associates with interleukin-6 production. 38
23929842 2013
50
Inhibitors of BTK and ITK: state of the new drugs for cancer, autoimmunity and inflammatory diseases. 38
23672610 2013

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 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 TNFRSF13C TNFRSF13B SH2D1A PRKCD NFKB2 ICOSLG
2
Show member pathways
13.58 TNFRSF13C TNFRSF13B PRKCD CD40LG CD40 CD4
3
Show member pathways
13.38 SH2D1A ICOSLG CD8A CD40LG CD40 CD4
4
Show member pathways
13.34 TNFRSF13C TNFRSF13B PRKCD CD40LG CD40 CD4
5
Show member pathways
13.3 TNFRSF13C TNFRSF13B PRKCD NFKB2 CD40LG CD40
6
Show member pathways
13.23 TNFRSF13C TNFRSF13B PRKCD CD40LG CD40 CD4
7
Show member pathways
12.85 TNFRSF13C TNFRSF13B PRKCD CD40LG CD40 CD27
8
Show member pathways
12.62 TNFRSF13C PRKCD NFKB2 CD40LG CD40
9
Show member pathways
12.61 PRKCD CR2 CD40LG CD40 CD4 CD27
10
Show member pathways
12.55 TNFRSF13C TNFRSF13B NFKB2 ICOSLG CD8A CD40LG
11
Show member pathways
12.53 NFKB2 ICOSLG CD40LG CD40 CD4 BTK
12
Show member pathways
12.48 NFKB2 CR2 CD19 BTK
13
Show member pathways
12.47 PRKCD CD8A CD40LG CD4
14
Show member pathways
12.44 TNFRSF13C TNFRSF13B PRKCD CD40LG CD40 CD27
15
Show member pathways
12.35 PRKCD ICOSLG CD40LG CD40 CD4
16
Show member pathways
12.33 TNFRSF13C TNFRSF13B NFKB2 CR2
17
Show member pathways
12.32 PRKCD CR2 CD19 BTK
18 12.32 SH2D1A NFKB2 CD8A CD40LG CD19 BTK
19
Show member pathways
12.25 PRKCD CD40 CD4 CD19 BTK
20 12 ICOSLG CD8A CD40LG CD40 CD4
21
Show member pathways
11.97 TNFRSF13C PRKCD CD4 BTK
22 11.93 SH2D1A CD8A CD40LG CD40 CD19
23 11.89 CD8A CD4 CD19
24
Show member pathways
11.87 NFKB2 CD8A CD4
25 11.86 CR2 CD8A CD4 CD19
26 11.73 TNFRSF13C NFKB2 CD40LG CD40 BTK
27
Show member pathways
11.67 TNFRSF13B NFKB2 CD40LG CD40
28 11.66 CD8A CD4 CD19
29 11.64 PRKCD CD4 BTK
30 11.52 ICOSLG CD40LG CD40 CD27
31 11.22 TNFRSF13B CR2 CD40LG CD40 CD4 CD27
32 10.89 TNFRSF13C TNFRSF13B IGLL1 CD8A CD40LG CD40

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 TGM2 PRKCD ICOSLG CR2
2 integral component of plasma membrane GO:0005887 9.7 TNFRSF13B CD8A CD40LG CD40 CD4 CD27
3 external side of plasma membrane GO:0009897 9.28 TNFRSF13C IGLL1 ICOSLG CD8A CD40LG CD40
4 T cell receptor complex GO:0042101 9.26 CD8A CD4

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.93 IGLL1 CR2 CD8A CD40LG CD4
2 adaptive immune response GO:0002250 9.8 TNFRSF13C TNFRSF13B SH2D1A ICOSLG CD4 BTK
3 T cell receptor signaling pathway GO:0050852 9.77 ICOSLG CD4 BTK
4 B cell receptor signaling pathway GO:0050853 9.77 IGLL1 CD19 BTK
5 platelet activation GO:0030168 9.76 PRKCD CD40LG CD40
6 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.73 NFKB2 CD40LG CD40 BTK
7 B cell differentiation GO:0030183 9.7 CR2 CD40LG AICDA
8 positive regulation of T cell proliferation GO:0042102 9.69 TNFRSF13C CD40LG CD4
9 T cell costimulation GO:0031295 9.67 TNFRSF13C ICOSLG CD40LG
10 cell surface receptor signaling pathway GO:0007166 9.67 TNFRSF13B CD8A CD4 CD27
11 T cell activation GO:0042110 9.63 ICOSLG CD8A CD4
12 positive regulation of interleukin-12 production GO:0032735 9.62 CD40LG CD40
13 positive regulation of endothelial cell apoptotic process GO:2000353 9.61 CD40LG CD40
14 B cell homeostasis GO:0001782 9.61 TNFRSF13C TNFRSF13B
15 negative regulation of B cell proliferation GO:0030889 9.58 TNFRSF13B BTK
16 B cell activation GO:0042113 9.58 ICOSLG CD40 BTK
17 isotype switching GO:0045190 9.57 CD40LG AICDA
18 positive regulation of B cell differentiation GO:0045579 9.56 CD27 BTK
19 B cell proliferation GO:0042100 9.56 PRKCD CR2 CD40LG CD40
20 immunoglobulin mediated immune response GO:0016064 9.55 PRKCD CD27
21 tumor necrosis factor-mediated signaling pathway GO:0033209 9.55 TNFRSF13C TNFRSF13B CD40LG CD40 CD27
22 regulation of immune response GO:0050776 9.5 TNFRSF13C SH2D1A ICOSLG CD8A CD40LG CD40
23 regulation of immunoglobulin secretion GO:0051023 9.48 CD40LG CD40
24 immune system process GO:0002376 9.28 TNFRSF13C TNFRSF13B SH2D1A ICOSLG CR2 CD8A

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.5 TNFRSF13B TGM2 SH2D1A PRKCD NFKB2 ICOSLG

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 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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