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Defective B cell activation

MedGen UID:
375916
•Concept ID:
C1846551
•
Finding
HPO: HP:0005384

Definition

A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of [from HPO]

Conditions with this feature

Autoimmune lymphoproliferative syndrome type 2B
MedGen UID:
339548
•Concept ID:
C1846545
•
Disease or Syndrome
Caspase 8 deficiency is a syndrome of lymphadenopathy and splenomegaly, marginal elevation of 'double-negative T cells' (DNT; T-cell receptor alpha/beta+, CD4-/CD8-), defective FAS-induced apoptosis, and defective T-, B-, and natural killer (NK)-cell activation, with recurrent bacterial and viral infections (summary by Madkaikar et al., 2011).
See: Condition Record
Autoimmune lymphoproliferative syndrome type 2B

Professional guidelines

PubMed

Role of JAK-STAT signaling pathway in pathogenesis and treatment of primary Sjögren's syndrome.
Li M, Li M, Qiao L, Wu C, Xu D, Zhao Y, Zeng X
Chin Med J (Engl) 2023 Oct 5;136(19):2297-2306. doi: 10.1097/CM9.0000000000002539. PMID: 37185152Free PMC Article
Recent advances in CAR T-cell toxicity: Mechanisms, manifestations and management.
Brudno JN, Kochenderfer JN
Blood Rev 2019 Mar;34:45-55. Epub 2018 Nov 14 doi: 10.1016/j.blre.2018.11.002. PMID: 30528964Free PMC Article
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD
J Allergy Clin Immunol 2014 Apr;133(4):1099-108. Epub 2013 Nov 28 doi: 10.1016/j.jaci.2013.10.007. PMID: 24290284Free PMC Article

Recent clinical studies

Etiology

Evaluation of CARMA1/CARD11 and Bob1 as candidate genes in common variable immunodeficiency.
Tampella G, Baronio M, Vitali M, Soresina A, Badolato R, Giliani S, Plebani A, Lougaris V
J Investig Allergol Clin Immunol 2011;21(5):348-53. PMID: 21905497
Potential advantages and risks of nucleic acid vaccines for infant immunization.
Siegrist CA
Vaccine 1997 Jun;15(8):798-800. doi: 10.1016/s0264-410x(96)00253-8. PMID: 9234517

Therapy

Potential advantages and risks of nucleic acid vaccines for infant immunization.
Siegrist CA
Vaccine 1997 Jun;15(8):798-800. doi: 10.1016/s0264-410x(96)00253-8. PMID: 9234517

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