MCID: BCL002
MIFTS: 41

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
SNOMED-CT 67 190982008
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 selective immunoglobulin deficiency disease and agammaglobulinemia. 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 ERK Signaling. Affiliated tissues include b cells, bone marrow and t cells, 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 335)
# Related Disease Score Top Affiliating Genes
1 selective immunoglobulin deficiency disease 32.2 TNFRSF13B ICOSLG CD8A
2 agammaglobulinemia 31.8 TNFRSF13B TEC IGLL1 ICOSLG CD40LG CD40
3 immunoglobulin alpha deficiency 31.2 TNFRSF13C TNFRSF13B ICOSLG CD8A CD40LG CD40
4 marginal zone b-cell lymphoma 30.3 CD40LG CD19 CCR6 BTK
5 pancytopenia 30.1 IKZF1 CD8A CD4 CD19
6 systemic scleroderma 30.1 ICOSLG CD8A CD40LG CD4 CCR6
7 common variable immunodeficiency 29.9 TNFRSF13C TNFRSF13B STAT3 PRKCD NFKB2 ICOSLG
8 agammaglobulinemia, x-linked 29.9 TNFRSF13C TNFRSF13B TEC IGLL1 ICOSLG CD40LG
9 t cell deficiency 29.9 ICOSLG DOCK8 CD8A CD4 CD27 CD19
10 autoimmune lymphoproliferative syndrome 29.8 STAT3 PRKCD ICOSLG CD8A CD4 CD27
11 b-cell lymphoma 29.8 TNFRSF13C STAT3 NFKB2 IKZF1 CD40 CD19
12 combined immunodeficiency 29.8 NFKB2 IKZF1 ICOSLG DOCK8 CD8A CD40LG
13 leukemia, acute myeloid 29.8 STAT3 IKZF1 ICOSLG CD8A CD4 CD19
14 multiple sclerosis 29.7 TNFRSF13C STAT3 CD8A CD40LG CD40 CD4
15 immunodeficiency with hyper-igm, type 1 29.6 TNFRSF13C TNFRSF13B ICOSLG CD40LG CD40 CD4
16 autoimmune lymphoproliferative syndrome, type iii 11.0
17 lambda 5 deficiency 11.0
18 immunodeficiency 61 11.0
19 immunodeficiency 15a 11.0
20 immunodeficiency 62 11.0
21 immunoglobulin beta deficiency 11.0
22 light fixation seizure syndrome 10.5 CD40LG CD40
23 congenital hypogammaglobulinemia 10.5 IGLL1 CD19 BTK
24 primary agammaglobulinemia 10.5 TNFRSF13C TNFRSF13B
25 immunodeficiency, common variable, 1 10.5 TNFRSF13B NFKB2
26 cork-handlers' disease 10.5 CD8A CD4
27 necrotic uveal melanoma 10.5 CD8A CD4
28 sulfamethoxazole allergy 10.5 CD40LG CD40
29 selective igg deficiency disease 10.5 TNFRSF13C TNFRSF13B CD19
30 immunodeficiency, common variable, 2 10.5 TNFRSF13C TNFRSF13B CD19
31 immunoglobulin a deficiency 1 10.5 TNFRSF13B CD40LG BTK
32 early yaws 10.4 CD8A CD4
33 ventilation pneumonitis 10.4 CD8A CD4
34 cataract 37 10.4 TRNT1 ICOSLG
35 cll/sll 10.4 CD19 CCR6 BTK
36 bird fancier's lung 10.4 IGLL1 CD8A CD4
37 transient hypogammaglobulinemia 10.4 TNFRSF13B CD27 CD19
38 diffuse infiltrative lymphocytosis syndrome 10.4 CD8A CD4
39 suppurative lymphadenitis 10.4 DOCK8 CD4 CCR6
40 lobomycosis 10.4 CD4 CD19
41 geotrichosis 10.4 CD40LG CD40 CD4
42 legume allergy 10.4 ICOSLG CD4 CCR6
43 fruit allergy 10.4 ICOSLG CD4 CCR6
44 latent syphilis 10.4 CD8A CD4
45 acute proliferative glomerulonephritis 10.4 ICOSLG CD4 CCR6
46 type 1 diabetes mellitus 23 10.4 CD8A CD4
47 chronic conjunctivitis 10.4 ICOSLG CD4 CCR6
48 autoimmune lymphoproliferative syndrome, type iia 10.4 CD8A CD4
49 combined oxidative phosphorylation deficiency 9 10.4 TNFRSF13B CD27 BTK
50 lymphoplasmacytic lymphoma 10.4 CD40LG CD19 BTK

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.28 AICDA BTK CCR6 CD19 CD27 CD4
2 cellular MP:0005384 10.18 AICDA BTK CD19 CD27 CD4 CD40LG
3 homeostasis/metabolism MP:0005376 10.1 AICDA BTK CCR6 CD19 CD4 CD40
4 immune system MP:0005387 10.09 AICDA BTK CCR6 CD19 CD27 CD4
5 digestive/alimentary MP:0005381 9.97 AICDA BTK CD19 CD4 IKZF1 NFKB2
6 integument MP:0010771 9.61 AICDA BTK CD19 CD4 CD40LG CD8A
7 renal/urinary system MP:0005367 9.23 CD19 CD40 CD40LG CD8A NFKB2 PRKCD

Drugs & Therapeutics for B Cell Deficiency

Search Clinical Trials , 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, Bone Marrow, T Cells, Nk Cells, Neutrophil, Kidney, Thyroid

Publications for B Cell Deficiency

Articles related to B Cell Deficiency:

(show top 50) (show all 236)
# Title Authors PMID Year
1
Microbiota-Driven Activation of Intrahepatic B Cells Aggravates Nonalcoholic Steatohepatitis through Innate and Adaptive Signaling. 61
33609303 2021
2
Thyroid Hormone Receptor α1 Mutants Impair B Lymphocyte Development in a Mouse Model. 61
33267733 2021
3
Loss of hnRNPLL-dependent splicing of Ptprc has no impact on B-cell development, activation and terminal differentiation into antibody-secreting cells. 61
33331104 2020
4
B Cell Deficiency Attenuates Transplant Glomerulopathy in a Rat Model of Chronic Active Antibody-mediated Rejection. 61
33273321 2020
5
Primary Immunodeficiency Disorders in children with Non-Cystic Fibrosis Bronchiectasis. 61
32372587 2020
6
Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia. 61
32914284 2020
7
B cell deficiency in patients with relapsed and refractory acute myeloid leukemia. 61
32924005 2020
8
CLASS SWITCHING AND HIGH AFFINITY IgG PRODUCTION BY B CELLS IS DISPENSABLE FOR THE DEVELOPMENT OF HYPERTENSION IN MICE. 61
32609312 2020
9
Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendations. 61
32579701 2020
10
Transcriptomics and proteomics reveal a cooperation between interferon and T-helper 17 cells in neuromyelitis optica. 61
32503977 2020
11
B Cells Inhibit CD4+ T Cell-Mediated Immunity to Brucella Infection in a Major Histocompatibility Complex Class II-Dependent Manner. 61
32071068 2020
12
Acquired Immunity Is Not Essential for Radiation-Induced Heart Dysfunction but Exerts a Complex Impact on Injury. 61
32316187 2020
13
Lymphocyte Subgroups and KREC Numbers in Common Variable Immunodeficiency: A Single Center Study. 61
32056073 2020
14
Myocardial B cells are a subset of circulating lymphocytes with delayed transit through the heart. 61
31945014 2020
15
Mucosal IgA Prevents Commensal Candida albicans Dysbiosis in the Oral Cavity. 61
33193324 2020
16
Case Report: PD-1 Inhibitor Is Active in Lung Adenocarcinoma With B Cell Deficiency. 61
33240259 2020
17
Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis. 61
33013931 2020
18
Tonsillar granuloma associated with hypogammaglobulinemia. 61
32514274 2020
19
Activated CD8+ T Cells Cause Long-Term Neurological Impairment after Traumatic Brain Injury in Mice. 61
31665632 2019
20
Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity. 61
30500415 2019
21
B1 cells protect against Schistosoma japonicum-induced liver inflammation and fibrosis by controlling monocyte infiltration. 61
31194740 2019
22
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. 61
30758723 2019
23
B-Cell Deficiency Lowers Blood Pressure in Mice. 61
30636551 2019
24
Inhibition of B cell-dependent lymphoid follicle formation prevents lymphocytic bronchiolitis after lung transplantation. 61
30728330 2019
25
Enteroviral Encephalitis in a Child With CNS Relapse of Burkitt Leukemia Treated With Rituximab. 61
29315142 2019
26
Gut Antibody Deficiency in a Mouse Model of CVID Results in Spontaneous Development of a Gluten-Sensitive Enteropathy. 61
31708923 2019
27
Evans Syndrome in Childhood: Long Term Follow-Up and the Evolution in Primary Immunodeficiency or Rheumatological Disease. 61
31396497 2019
28
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
29
B Cell and CD4 T Cell Interactions Promote Development of Atherosclerosis. 61
31998318 2019
30
Gain-of-function IKBKB mutation causes human combined immune deficiency. 61
30337470 2018
31
Phospholipid flippases enable precursor B cells to flee engulfment by macrophages. 61
30355768 2018
32
Initiation of LPS-induced pulmonary dysfunction and its recovery occur independent of T cells. 61
30466430 2018
33
Restoration of regulatory B cell deficiency following alemtuzumab therapy in patients with relapsing multiple sclerosis. 61
30373595 2018
34
Altered gastrointestinal motility involving autoantibodies in the experimental autoimmune encephalomyelitis model of multiple sclerosis. 61
29644797 2018
35
Embolizing pulmonary aspergillosis, mycobacterial & aspergillous splenic abscess and cytomegalovirus co-infection following steroid induced immunosuppression: a case report. 61
30081818 2018
36
The Ikaros family in lymphocyte development. 61
29278858 2018
37
Inherited Immunodeficiency: A New Association With Early-Onset Childhood Panniculitis. 61
29610179 2018
38
MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia. 61
29540340 2018
39
Complete B Cell Deficiency Reduces Allograft Inflammation and Intragraft Macrophages in a Rat Kidney Transplant Model. 61
29215459 2018
40
B-cell Deficiency: A De Novo IKZF1 Patient and Review of the Literature. 61
29461212 2018
41
B cell subset distribution is altered in patients with severe periodontitis. 61
29447240 2018
42
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
43
Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study. 61
28512785 2017
44
Comprehensive validation of T- and B-cell deficiency in rag1-null zebrafish: Implication for the robust innate defense mechanisms of teleosts. 61
28790360 2017
45
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations. 61
27939403 2017
46
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. 61
28597146 2017
47
Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience. 61
27001505 2017
48
The mast cell-B cell axis in lung vascular remodeling and pulmonary hypertension. 61
28235950 2017
49
Interleukin-33-induced expression of PIBF1 by decidual B cells protects against preterm labor. 61
27918564 2017
50
The Impact of IL-17 in Atherosclerosis. 61
28425862 2017

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 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 TNFRSF13C TNFRSF13B TEC STAT3 PRKCD NFKB2
2
Show member pathways
13.79 TNFRSF13C TNFRSF13B STAT3 PRKCD CD40LG CD40
3
Show member pathways
13.65 TNFRSF13C TNFRSF13B STAT3 PRKCD CD40LG CD40
4
Show member pathways
13.24 TNFRSF13C TNFRSF13B PRKCD CD40LG CD40 CD4
5
Show member pathways
13.24 TNFRSF13C TNFRSF13B TEC STAT3 PRKCD NFKB2
6
Show member pathways
13.14 TNFRSF13C TNFRSF13B TEC STAT3 PRKCD CD40LG
7
Show member pathways
12.75 STAT3 NFKB2 CD40 CD19 BTK
8
Show member pathways
12.67 TNFRSF13C TNFRSF13B ICOSLG CD8A CD40LG CD40
9
Show member pathways
12.65 TNFRSF13C PRKCD NFKB2 CD40LG CD40
10
Show member pathways
12.64 STAT3 PRKCD CD40LG CD40 CD4 CD27
11
Show member pathways
12.63 NFKB2 ICOSLG CD40LG CD40 CD4 BTK
12
Show member pathways
12.58 TEC STAT3 PRKCD CD8A CD40LG CD4
13
Show member pathways
12.56 TNFRSF13C TNFRSF13B PRKCD CD40LG CD40 CD27
14
Show member pathways
12.4 PRKCD NFKB2 CD40 CD4 CD19 BTK
15
Show member pathways
12.34 TEC PRKCD CD19 BTK
16
Show member pathways
12.33 TEC PRKCD ICOSLG CD40LG CD40 CD4
17 12.28 TNFRSF13C NFKB2 CD40 CD4
18
Show member pathways
12.26 STAT3 PRKCD NFKB2 BTK
19 12.12 TEC STAT3 NFKB2 IKZF1 CD8A CD40LG
20 12.11 ICOSLG CD8A CD40LG CD40 CD4
21 12.05 CD8A CD40LG CD40 CD19
22
Show member pathways
11.97 STAT3 NFKB2 CD8A CD4
23 11.87 TNFRSF13C NFKB2 CD40LG CD40 BTK
24 11.83 CD8A CD4 CD19
25
Show member pathways
11.82 TEC STAT3 BTK
26 11.8 IKZF1 CD8A CD4 CCR6
27 11.75 IKZF1 CD8A CD4 CD19
28
Show member pathways
11.74 TNFRSF13B NFKB2 CD40LG CD40
29
Show member pathways
11.72 TNFRSF13C TNFRSF13B CD40LG CD40 CD27
30 11.48 TEC STAT3 NFKB2 BTK
31 11.45 TNFRSF13C TNFRSF13B ICOSLG CD40LG CD40 CCR6
32 10.9 TNFRSF13C TNFRSF13B IGLL1 CD8A CD40LG CD40
33 10.76 STAT3 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 9.83 TNFRSF13C TNFRSF13B TEC STAT3 PRKCD ICOSLG
2 integral component of plasma membrane GO:0005887 9.76 TNFRSF13B CD8A CD40LG CD40 CD4 CD27
3 external side of plasma membrane GO:0009897 9.32 TNFRSF13C IGLL1 ICOSLG CD8A CD40LG CD40

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.96 IGLL1 CD8A CD40LG CD4 CCR6
2 regulation of immune response GO:0050776 9.81 CD8A CD40LG CD40 CD19
3 positive regulation of T cell proliferation GO:0042102 9.67 TNFRSF13C CD40LG CD4
4 B cell receptor signaling pathway GO:0050853 9.67 TEC IGLL1 CD19 BTK
5 T cell costimulation GO:0031295 9.65 TNFRSF13C ICOSLG CD40LG
6 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.65 STAT3 NFKB2 CD40LG CD40 BTK
7 T cell activation GO:0042110 9.63 ICOSLG CD8A CD4
8 B cell activation GO:0042113 9.61 ICOSLG CD40 BTK
9 immune system process GO:0002376 9.61 TNFRSF13C TNFRSF13B TEC ICOSLG CD8A CD40
10 positive regulation of B cell differentiation GO:0045579 9.58 CD27 BTK
11 B cell proliferation GO:0042100 9.58 PRKCD CD40LG CD40
12 interleukin-15-mediated signaling pathway GO:0035723 9.57 STAT3 CD4
13 negative regulation of T cell apoptotic process GO:0070233 9.55 DOCK8 CD27
14 tumor necrosis factor-mediated signaling pathway GO:0033209 9.55 TNFRSF13C TNFRSF13B CD40LG CD40 CD27
15 CD40 signaling pathway GO:0023035 9.54 CD40LG CD40
16 regulation of immunoglobulin production GO:0002637 9.52 CD40LG CD40
17 immunoglobulin mediated immune response GO:0016064 9.5 PRKCD CD27 CD19
18 adaptive immune response GO:0002250 9.23 TNFRSF13C TNFRSF13B TEC ICOSLG CD8A CD4

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 10.13 TRNT1 TNFRSF13B TEC STAT3 PRKCD NFKB2
2 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.13 TEC PRKCD BTK
3 signaling receptor activity GO:0038023 9.02 TNFRSF13C TNFRSF13B CD40 CD4 CCR6

Sources for B Cell Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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