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:

(showing 151, show less)
# 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
51 myasthenia gravis 9.8
52 cerebral artery occlusion 9.8
53 neuroretinitis 9.8
54 chagas disease 9.8
55 dermatitis 9.8
56 central nervous system disease 9.8
57 retinitis 9.8
58 pneumonia 9.8
59 nervous system disease 9.8
60 diabetes mellitus 9.8
61 stromal keratitis 9.8
62 pfeiffer syndrome 9.7 SH2D1A CR2 CD40LG
63 immunodeficiency with hyper-igm, type 1 9.7 CD40LG CD40 BTK AICDA
64 macroglobulinemia 9.7 TNFRSF13C TNFRSF13B CD40LG CD27 BTK
65 atrial standstill 1 9.6
66 multiple sclerosis 9.6
67 yellow nail syndrome 9.6
68 schistosoma mansoni infection, susceptibility/ 9.6
69 tl antigen 9.6
70 triiodothyronine receptor auxiliary protein 9.6
71 diabetes mellitus, insulin-dependent 9.6
72 proteasome-associated autoinflammatory syndrome 1 9.6
73 retinitis pigmentosa 9.6
74 yemenite deaf-blind hypopigmentation syndrome 9.6
75 autoimmune lymphoproliferative syndrome 9.6
76 aplastic anemia 9.6
77 west nile virus 9.6
78 chromosome 16p13.3 deletion syndrome, proximal 9.6
79 malaria 9.6
80 agammaglobulinemia 2, autosomal recessive 9.6
81 agammaglobulinemia 3, autosomal recessive 9.6
82 muscle hypertrophy 9.6
83 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.6
84 immunodeficiency, common variable, 10 9.6
85 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 9.6
86 herpes simplex virus keratitis 9.6
87 trypanosomiasis 9.6
88 osteomyelitis 9.6
89 bacterial infectious disease 9.6
90 glucose intolerance 9.6
91 giardiasis 9.6
92 filariasis 9.6
93 brucellosis 9.6
94 pertussis 9.6
95 t cell deficiency 9.6
96 disseminated intravascular coagulation 9.6
97 microcytic anemia 9.6
98 pneumocystosis 9.6
99 diphtheria 9.6
100 onchocerciasis 9.6
101 cryptococcosis 9.6
102 pancytopenia 9.6
103 acute leukemia 9.6
104 paracoccidioidomycosis 9.6
105 diarrhea 9.6
106 typhoid fever 9.6
107 biliary atresia 9.6
108 schistosomiasis 9.6
109 cholera 9.6
110 arteriosclerosis 9.6
111 bilirubin metabolic disorder 9.6
112 endometriosis 9.6
113 glomerulonephritis 9.6
114 pulmonary tuberculosis 9.6
115 acute kidney failure 9.6
116 ischemia 9.6
117 chronic granulomatous disease 9.6
118 vaccinia 9.6
119 systemic scleroderma 9.6
120 hyperglycemia 9.6
121 scrapie 9.6
122 lymphopenia 9.6
123 acquired immunodeficiency syndrome 9.6
124 t-cell leukemia 9.6
125 cataract 9.6
126 intestinal volvulus 9.6
127 sideroblastic anemia 9.6
128 allergic asthma 9.6
129 pulmonary eosinophilia 9.6
130 encephalitis 9.6
131 stomatitis 9.6
132 pulmonary emphysema 9.6
133 alopecia 9.6
134 toxoplasmosis 9.6
135 leukemia, t-cell, chronic 9.6
136 specific antibody deficiency 9.6
137 trnt1 deficiency 9.6
138 encephalopathy 9.6
139 mucopolysaccharidoses 9.6
140 rapidly involuting congenital hemangioma 9.6
141 isolated agammaglobulinemia 9.6
142 immunodeficiency with hyper-igm, type 2 9.6 ICOSLG CD40LG CD40 AICDA
143 cryoglobulinemia 9.5 CR2 CD40LG CD27
144 immunodeficiency, common variable, 2 9.5 TNFRSF13C TNFRSF13B CR2 CD19
145 reticulum cell sarcoma 9.5 CR2 CD4
146 hemophagocytic lymphohistiocytosis 9.4 SH2D1A CR2 CD27
147 burkitt lymphoma 8.8 SH2D1A CR2 CD40LG CD40 AICDA
148 systemic lupus erythematosus 8.6 TNFRSF13C TNFRSF13B CR2 CD40LG CD40 CD19
149 transient hypogammaglobulinemia of infancy 8.2 TNFRSF13B CR2 CD40LG CD40 CD27 CD19
150 leukemia, chronic lymphocytic 8.1 TNFRSF13C CR2 CD40LG CD40 CD27 CD19
151 lymphoma, non-hodgkin, familial 7.8 TNFRSF13C TNFRSF13B SH2D1A CR2 CD40 CD27

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 (showing 2, show less)
# 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 (showing 8, show less)
# 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):

(showing 10, show less)
# 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:

(showing 1, show less)
# 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:

(showing 214, show less)
# 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
51
Effect of immunodeficiency on MPV shedding and transmission. 38
23849445 2013
52
Pharmacologic inhibition of IκB kinase activates immediate hypersensitivity reactions in mice. 38
23665348 2013
53
A case of IgM deficiency with B cell deficiency detected by ABO discrepancy in a patient with acute osteomyelitis. 38
23667850 2013
54
Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency. 38
23371835 2013
55
Comprehensive report of primary immunodeficiency disorders from a tertiary care center in India. 38
23108471 2013
56
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ. 38
23319571 2013
57
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. 38
22801960 2013
58
Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency. 38
24069355 2013
59
Increased infection rate after preemptive rituximab treatment for Epstein-Barr virus reactivation after allogeneic hematopoietic stem-cell transplantation. 38
23001354 2012
60
Lung B cells promote early pathogen dissemination and hasten death from inhalation anthrax. 38
22472773 2012
61
Characteristics and influencing factors of CD19+ B cell reconstitution in patients following haploidentical/mismatched hematopoietic stem cell transplantation. 38
22674381 2012
62
A novel IL-10-independent regulatory role for B cells in suppressing autoimmunity by maintenance of regulatory T cells via GITR ligand. 38
22368274 2012
63
T and B cell deficiency associated with yellow nail syndrome. 38
21995335 2012
64
Ileal Peyer's patches are not necessary for systemic B cell development and maintenance and do not contribute significantly to the overall B cell pool in swine. 38
22013120 2011
65
Cannabinoid receptor 2 positions and retains marginal zone B cells within the splenic marginal zone. 38
21875957 2011
66
Chronic B cell deficiency from birth prevents age-related alterations in the B lineage. 38
21810615 2011
67
More on NK-cell and B-cell deficiency with a thymic mass. 38
21591963 2011
68
ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes. 38
21423173 2011
69
NK-cell and B-cell deficiency with a thymic mass. 38
21306273 2011
70
Hoffman syndrome: New patients, new insights. 38
21204224 2011
71
[Subcutaneous immunoglobulin substitution and therapy]. 38
21177233 2011
72
Critical role of Pcid2 in B cell survival through the regulation of MAD2 expression. 38
20870947 2010
73
Mature B cells are critical to T-cell-mediated tumor immunity induced by an agonist anti-GITR monoclonal antibody. 38
20842058 2010
74
Macrophage polarization to a unique phenotype driven by B cells. 38
20468007 2010
75
The adaptor protein Sh2d3c is critical for marginal zone B cell development and function. 38
20505138 2010
76
Foxo1 regulates marginal zone B-cell development. 38
20449867 2010
77
Long-term immune deficiency after allogeneic stem cell transplantation: B-cell deficiency is associated with late infections. 38
20133894 2010
78
Enteroviral encephalitis in a patient with a marginal zone lymphomatreated with rituximab. 38
20508271 2010
79
B cells delay neutrophil migration toward the site of stimulus: tardiness critical for effective bacillus Calmette-Guérin vaccination against tuberculosis infection in mice. 38
20028653 2010
80
SH2-dependent autophosphorylation within the Tec family kinase Itk. 38
19523959 2009
81
Contribution of B cells and antibody to cardiac allograft vasculopathy. 38
19696629 2009
82
Allogeneic hematopoietic stem cell transplantation recipients have defects of both switched and igm memory B cells. 38
19539210 2009
83
Delay in B-lymphocyte recovery and function following rituximab for EBV-associated lymphoproliferative disease early post-allogeneic hematopoietic SCT. 38
19029962 2009
84
Immunoglobulin class switch recombination: study through human natural mutants. 38
19008192 2009
85
[X-linked Bruton congenital agammaglobulinemia. Case report]. 38
21495305 2009
86
XLA-associated neutropenia treatment: a case report and review of the literature. 38
18799945 2008
87
Agammaglobulinemia and Staphylococcus aureus botryomycosis in a cohort of related sentinel Swiss Webster mice. 38
18322060 2008
88
B-cells promote intra-islet CD8+ cytotoxic T-cell survival to enhance type 1 diabetes. 38
18184927 2008
89
West Nile 25A virus infection of B-cell-deficient ((micro)MT) mice: characterization of neuroinvasiveness and pseudoreversion of the viral envelope protein. 38
18272752 2008
90
Systemic autoimmunity in BAFF-R-mutant A/WySnJ strain mice. 38
18200501 2008
91
Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome. 38
17553565 2008
92
Clinical and immunologic features of pediatric patients with common variable immunodeficiency and respiratory complications. 38
18714533 2008
93
Novel mouse mutants with primary cellular immunodeficiencies generated by genome-wide mutagenesis. 38
17767948 2008
94
B lymphocyte deficiency in IgH-transgenic rabbits. 38
17628859 2007
95
A progressive, fatal dystonia-Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy. 38
17588239 2007
96
TC-PTP-deficient bone marrow stromal cells fail to support normal B lymphopoiesis due to abnormal secretion of interferon-{gamma}. 38
17234741 2007
97
B cell regulation of CD4+CD25+ T regulatory cells and IL-10 via B7 is essential for recovery from experimental autoimmune encephalomyelitis. 38
17339439 2007
98
Relapsing Campylobacter coli bacteremia with reactive arthritis in a patient with X-linked agammaglobulinemia. 38
17473499 2007
99
T and B lymphocytes exert distinct effects on the homeostasis of NK cells. 38
16955521 2006
100
[Validation of a Bruton's disease genetic analysis method]. 38
17040875 2006
101
Effects of long-term low-dose corticosteroid therapy on humoral immunity. 38
16892792 2006
102
Three-dimensional ultrasound in the prenatal diagnosis of cleidocranial dysplasia associated with B-cell immunodeficiency. 38
16619383 2006
103
Enteroviral meningoencephalitis in a patient with non-Hodgkin's lymphoma treated previously with rituximab. 38
16430465 2006
104
Developmental and functional significance of the CSF-1 proteoglycan chondroitin sulfate chain. 38
16210339 2006
105
Deficiency of regulatory B cells increases allergic airway inflammation. 38
16389573 2005
106
Immunomodulatory effect of plasmids co-expressing cytokines in classical swine fever virus subunit gp55/E2-DNA vaccination. 38
15955282 2005
107
Deficiency of somatic hypermutation of immunoglobulin G transcripts is a better predictor of severe respiratory tract infections than lack of memory B cells in common variable immunodeficiency. 38
16133996 2005
108
Mucosal B cell deficiency in IgA-/- mice abrogates the development of allergic lung inflammation. 38
16002732 2005
109
Effects of combined T- and B-cell deficiency on murine ischemia reperfusion injury. 38
15888022 2005
110
Essential role for virus-neutralizing antibodies in sterilizing immunity against Friend retrovirus infection. 38
15297622 2004
111
B cell-dependent T cell development. 38
15176721 2004
112
[Vaccination of the immunocompromised host]. 38
15244047 2004
113
B-cell deficiency and reduced B-cell reconstitution in hemoglobin-deficit mice. 38
14662329 2003
114
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. 38
14660746 2003
115
Impaired germinal center maturation in adenosine deaminase deficiency. 38
14607964 2003
116
Collagen type II-specific monoclonal antibody-induced arthritis in mice: description of the disease and the influence of age, sex, and genes. 38
14578183 2003
117
B cell deficiency confers protection from renal ischemia reperfusion injury. 38
12960350 2003
118
Impaired secretion of IL-10 by T cells from patients with common variable immunodeficiency--involvement of protein kinase A type I. 38
12759461 2003
119
The possibility of B-cell-dependent T-cell development. 38
12753501 2003
120
Cutting edge: CD40 engagement eliminates the need for Bruton's tyrosine kinase in B cell receptor signaling for NF-kappa B. 38
12626529 2003
121
Overexpression of RANKL implicates IFN-beta-mediated elimination of B-cell precursors in the osteopetrotic bone of microphthalmic mice. 38
12568405 2003
122
Essential, nonredundant role for the phosphoinositide 3-kinase p110delta in signaling by the B-cell receptor complex. 38
12446777 2002
123
B-lymphocyte deficiency increases atherosclerosis in LDL receptor-null mice. 38
12426221 2002
124
A transcription-factor-binding surface of coactivator p300 is required for haematopoiesis. 38
12384703 2002
125
A case of severe B cell deficiency after allogeneic stem cell transplantation. 38
12235525 2002
126
Successful immunosuppressive therapy with cyclosporine A for posthepatitis B-cell deficiency with activated cytoplasmic interferon--gamma-positive T-lymphocytes. 38
11999357 2002
127
Essential immunoregulatory role for BCAP in B cell development and function. 38
11877477 2002
128
The effect of immunosuppression on protective immunity of turkey poults against infection with turkey coronavirus. 38
11848129 2002
129
Fas ligand-expressing B-1a lymphocytes mediate CD4(+)-T-cell apoptosis during schistosomal infection: induction by interleukin 4 (IL-4) and IL-10. 38
11796615 2002
130
B-cell deficiency and type 1 diabetes. 38
11858222 2002
131
B-cell deficiency and type 1 diabetes. 38
11844863 2002
132
Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children. 38
11809909 2002
133
Splenic T zone development is B cell dependent. 38
11733579 2001
134
Cutting edge: A/WySnJ transitional B cells overexpress the chromosome 15 proapoptotic Blk gene and succumb to premature apoptosis. 38
11714762 2001
135
Genetic studies of B-lymphocyte deficiency and mastocytosis in strain A/WySnJ mice. 38
11862404 2001
136
Treatment of childhood autoimmune haemolytic anaemia with rituximab. 38
11705566 2001
137
B-cell deficiency suppresses vaccine-induced protection against murine filariasis but does not increase the recovery rate for primary infection. 38
11598082 2001
138
Development of type 1 diabetes despite severe hereditary B-cell deficiency. 38
11586956 2001
139
Identification of a novel receptor for B lymphocyte stimulator that is mutated in a mouse strain with severe B cell deficiency. 38
11591325 2001
140
Factors influencing B lymphopoiesis after allogeneic hematopoietic cell transplantation. 38
11435323 2001
141
Severe B cell deficiency in mice lacking the tec kinase family members Tec and Btk. 38
11104803 2000
142
B-Cell deficiency predisposes mice to disseminating anaerobic infections: protection by passive antibody transfer. 38
10992465 2000
143
A quantitative-trait locus controlling peripheral B-cell deficiency maps to mouse Chromosome 15. 38
11003386 2000
144
Phospholipase Cgamma2 is essential in the functions of B cell and several Fc receptors. 38
10933392 2000
145
Bruton's tyrosine kinase is required for activation of IkappaB kinase and nuclear factor kappaB in response to B cell receptor engagement. 38
10811867 2000
146
Decreased vitamin A levels in common variable immunodeficiency: vitamin A supplementation in vivo enhances immunoglobulin production and downregulates inflammatory responses. 38
10692003 2000
147
Common variable immunodeficiency in miniature dachshunds affected with Pneumonocystis carinii pneumonia. 38
10690774 2000
148
Microphthalmic mice display a B cell deficiency similar to that seen for mast and NK cells. 38
10586063 1999
149
[The role of salivary immunoglobulins (secretory IgA, IgM, IgG) in caries prevalence and primary B-cell deficiency]. 38
10628067 1999
150
Scrapie pathogenesis in subclinically infected B-cell-deficient mice. 38
10516067 1999
151
Complex requirements for nascent and memory immunity in pulmonary histoplasmosis. 38
10358191 1999
152
Susceptibility of B-cell deficient C57BL/6 (microMT) mice to Neospora caninum infection. 38
10320620 1999
153
A role for Bruton's tyrosine kinase (Btk) in platelet activation by collagen. 38
9778529 1998
154
B-cell development: a comparison between mouse and man. 38
9785673 1998
155
Severe B cell deficiency and disrupted splenic architecture in transgenic mice expressing the E41K mutated form of Bruton's tyrosine kinase. 38
9736610 1998
156
The effect of B cell deficiency on the immune response to acetylcholine receptor and the development of experimental autoimmune myasthenia gravis. 38
9646836 1998
157
CD4+ T cell-mediated granulomatous pathology in schistosomiasis is downregulated by a B cell-dependent mechanism requiring Fc receptor signaling. 38
9463412 1998
158
Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. 38
9419212 1998
159
B-cell deficiency does not abrogate development of cutaneous hyperplasia in mice inheriting the defective fibrillin-1 gene. 38
9451590 1997
160
Defective mammopoiesis, but normal hematopoiesis, in mice with a targeted disruption of the prolactin gene. 38
9384572 1997
161
Chlamydia trachomatis genital tract infection of antibody-deficient gene knockout mice. 38
9169723 1997
162
Acquired B lymphocyte deficiency and chronic enterocolitis in a 3-year-old quarter horse. 38
9239837 1997
163
A pronounced thymic B cell deficiency in the spontaneously diabetic BB rat. 38
9164980 1997
164
Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression. 38
9058789 1997
165
Mycobacterium tuberculosis aerogenic rechallenge infections in B cell-deficient mice. 38
10209680 1997
166
Humoral immunodeficiency in patients after bone marrow transplantation. 38
8971382 1996
167
A novel mutation (Cys145-->Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male. 38
8898377 1996
168
Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan. 38
8695804 1996
169
Bcmd governs recruitment of new B cells into the stable peripheral B cell pool in the A/WySnJ mouse. 38
8752907 1996
170
High copy number I-Ab transgenes induce production of IgE through an interluekin 4-dependent mechanism. 38
8610148 1996
171
Gene-targeted mice lacking B cells are unable to eliminate a blood stage malaria infection. 38
8786312 1996
172
Immunoglobulin deficient mice generated by gene targeting as models for studying the immune response. 38
8884429 1996
173
Immunologic effects of low-dose polyethylene glycol-conjugated recombinant human interleukin-2 in common variable immunodeficiency. 38
7584674 1995
174
Differential sensitivity to transforming growth factor (TGF)-beta of CBA and of CBA/N B cells demonstrates that the IgG2b inducing factor in synovial fluid from rheumatoid arthritis patients is not identical to TGF-beta. 38
7794824 1995
175
Hemorrhagic enteritis virus induced changes in the lymphocyte subpopulations in turkeys and the effect of experimental immunodeficiency on viral pathogenesis. 38
7604531 1995
176
The Yaa gene-dependent B-cell deficiency worsens the generalized lymphadenopathy and autoimmunity of C57BL/6-gld male mice. 38
7835973 1994
177
Radiologic findings of adult primary immunodeficiency disorders. Contribution of CT. 38
7774325 1994
178
The resolution of acute malaria in a definitive model of B cell deficiency, the JHD mouse. 38
8157969 1994
179
Detection of cell specific cluster determinant expression by reverse transcriptase polymerase chain reaction. 38
7510756 1994
180
Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice. 38
8162018 1994
181
Distribution and phenotypes of duodenal intraepithelial gamma/delta T cells in patients with various types of primary B-cell deficiency. 38
8103721 1993
182
B-cell and T-regulatory cell dysfunction in six Chinese children with hypogammaglobulinaemia. 38
8319707 1993
183
Demonstrations of a B-cell population that regulates the immune response in spleens of mice infected with herpes simplex virus type I. 38
8453787 1993
184
[The characteristics of the lymphoid population in myelodysplastic states]. 38
8020698 1993
185
Intestinal intraepithelial gamma/delta T cells in B-cell deficiency. 38
8167738 1993
186
B cell deficiency progresses with lineage maturation in nude.X-linked immunodeficient mice B cell deficiency progresses with lineage maturation. 38
1385525 1992
187
B-less: a strain of profoundly B cell-deficient mice expressing a human lambda transgene. 38
1314882 1992
188
Phenotypic and genetic characterization of a unique B lymphocyte deficiency in strain A/WySnJ mice. 38
2037009 1991
189
Immunobiology of the xenograft response: xenograft rejection in immunodeficient animals. 38
1990514 1991
190
Inverse correlation between natural antitumor antibodies and tumor susceptibility in individual xid-bearing mice. 38
2057021 1991
191
Rheumatoid synovial fluid reconstitutes the B-cell defect in CBA/N mice. 38
2602914 1989
192
Is the DNA synthesis of pancreatic islets influenced by the MHC and/or the genetic background? 38
2691591 1989
193
[Combined immunodeficiency in LEC (Long Evans Cinnamon) rats with spontaneous hepatitis]. 38
2796959 1989
194
The role of interleukin 2 in the regulation of proliferation and IgM synthesis of human newborn mononuclear cells. 38
2784745 1989
195
[Mechanisms of polyclonal tolerance induced by lipopolysaccharide and cyclophosphamide]. 38
3118987 1987
196
Studies of the role of B-cells in the resistance of mice to experimental candidiasis. 38
3321768 1987
197
Impaired T- and B-cell functions in patients with Hodgkin's disease. Reduced mitogenic responsibility and Il-2 production is not caused by defective CD4+-cells. 38
3496158 1987
198
Humoral immune deficiency in multiple myeloma patients due to compromised B-cell function. 38
3023434 1986
199
Generation of agammaglobulinaemic mice by prenatal and postnatal exposure to polyclonal or monoclonal anti-IgM antibodies. 38
3489985 1986
200
Humoral immunodeficiency. 38
2424651 1986
201
Noma in a full-term neonate. 38
3874741 1985
202
Fatal disseminated adenovirus infection featuring liver necrosis and prolonged viremia in an immunosuppressed child with malignant histiocytosis. 38
2994509 1985
203
Studies on experimental aspergillosis in immunodeficient mice. 38
6326425 1983
204
Syndrome of neutrophil agranulocytosis, hypogammaglobulinemia, and thymoma. 38
7115963 1982
205
B cell, helper T cell, and suppressor T cell abnormalities contribute to disordered immunoglobulin synthesis in patients following bone marrow transplantation. 38
6277055 1982
206
Acquired immunity in B cell-deficient mice to challenge exposure following primary infection with Schistosoma mansoni. 38
6973286 1981
207
Lymphocyte populations in maintenance hemodialysis patients - reassessment and analysis of B cell subtypes. 38
7333042 1981
208
Cytomegalovirus-specific lymphocyte transformations in subjects of different ages with primary immunodeficiency. 38
6155348 1980
209
Experimental model of B-cell deficiency in mice. 38
6966610 1980
210
Immunocytological studies in a case of Bruton's disease. 38
6965479 1980
211
Schistosoma mansoni infection in intact and B cell deficient mice: the effect of pretreatment with BCG in these experimental models. 38
362959 1978
212
Effect of lipopolysaccharide on immunogenicity and tolerogenicity of HGG in C57BL/6J nude mice: evidence for a possible B cell deficiency. 38
72110 1977
213
Gastrointestinal complications of immunodeficiency syndromes. 38
346324 1977
214
Variation in T and B cell deficiency in different mouse allogeneic radiation chimeras. 38
4279262 1974

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:

(showing 32, show less)
# 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:

(showing 4, show less)
# 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:

(showing 24, show less)
# 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:

(showing 1, show less)
# 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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