scholarly journals B-cell Deficiency: A De Novo IKZF1 Patient and Review of the Literature

2018 ◽  
Vol 28 (1) ◽  
pp. 53-56 ◽  
Author(s):  
QY Chen ◽  
XC Wang ◽  
WJ Wang ◽  
QH Zhou ◽  
DR Liu ◽  
...  
Keyword(s):  
B Cell ◽  
De Novo ◽  
Review Of The Literature ◽  
B Cell Deficiency

scholarly journals Gain-of-function IKBKB mutation causes human combined immune deficiency

2018 ◽  
Vol 215 (11) ◽  
pp. 2715-2724 ◽  
Author(s):  
Chelisa Cardinez ◽  
Bahar Miraghazadeh ◽  
Kay Tanita ◽  
Elizabeth da Silva ◽  
Akihiro Hoshino ◽  
...  
Keyword(s):  
B Cell ◽  
Missense Mutation ◽  
De Novo ◽  
Genetic Mutations ◽  
Whole Exome ◽  
Immune Deficiencies ◽  
Codon Change ◽  
B Cell Deficiency ◽  
Conserved Residue ◽  
Insight Into

Genetic mutations account for many devastating early onset immune deficiencies. In contrast, less severe and later onset immune diseases, including in patients with no prior family history, remain poorly understood. Whole exome sequencing in two cohorts of such patients identified a novel heterozygous de novo IKBKB missense mutation (c.607G>A) in two separate kindreds in whom probands presented with immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects. IKBKB encodes IKK2, which activates NF-κB signaling. IKK2V203I results in enhanced NF-κB signaling, as well as T and B cell functional defects. IKK2V203 is a highly conserved residue, and to prove causation, we generated an accurate mouse model by introducing the precise orthologous codon change in Ikbkb using CRISPR/Cas9. Mice and humans carrying this missense mutation exhibit remarkably similar cellular and biochemical phenotypes. Accurate mouse models engineered by CRISPR/Cas9 can help characterize novel syndromes arising from de novo germline mutations and yield insight into pathogenesis.

Primary cutaneous B-cell lymphoma: narrative review of the literature

2019 ◽  
Vol 154 (4) ◽  
Author(s):  
Vieri Grandi ◽  
Silvia Alberti Violetti ◽  
Roberta La Selva ◽  
Stefano Cicchelli ◽  
Chiara Delfino ◽  
...  
Keyword(s):  
B Cell ◽  
Cell Lymphoma ◽  
B Cell Lymphoma ◽  
Narrative Review ◽  
Review Of The Literature ◽  
Cutaneous B Cell Lymphoma

scholarly journals Prolonged Survival in Patients with Metastatic HER2-Positive Inflammatory Breast Cancer: A Case Report and Review of the Literature

2021 ◽  
pp. 1071-1079
Author(s):  
Jennifer Y. Ge ◽  
Beth Overmoyer
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Inflammatory Breast Cancer ◽  
Targeted Therapies ◽  
De Novo ◽  
Review Of The Literature ◽  
Her2 Positive ◽  
Rare Type ◽  
Favorable Prognosis ◽  
Poor Outcomes

Inflammatory breast cancer (IBC) is a rare type of breast cancer that is associated with poor outcomes compared with non-IBC. Overexpression of HER2 is enriched in IBC, and those with HER2-positive disease have a relatively favorable prognosis, with improved survival over the last two decades driven by the advent of novel targeted therapies. Here, we present two patients who have survived for over 10 years after being diagnosed with de novo metastatic HER2-positive IBC. We review the data for the treatments available for metastatic HER2-positive IBC and the evolving treatment recommendations for this disease.

scholarly journals B cell depletion impairs vaccination-induced CD8+ T cell responses in a type I interferon-dependent manner

2021 ◽  
pp. annrheumdis-2021-220435
Author(s):  
Theresa Graalmann ◽  
Katharina Borst ◽  
Himanshu Manchanda ◽  
Lea Vaas ◽  
Matthias Bruhn ◽  
...  
Keyword(s):  
T Cells ◽  
T Cell ◽  
B Cells ◽  
B Cell ◽  
Cell Expansion ◽  
De Novo ◽  
T Cell Responses ◽  
Type I ◽  
Cell Responses ◽  
T Cell Expansion

ObjectivesThe monoclonal anti-CD20 antibody rituximab is frequently applied in the treatment of lymphoma as well as autoimmune diseases and confers efficient depletion of recirculating B cells. Correspondingly, B cell-depleted patients barely mount de novo antibody responses during infections or vaccinations. Therefore, efficient immune responses of B cell-depleted patients largely depend on protective T cell responses.MethodsCD8+ T cell expansion was studied in rituximab-treated rheumatoid arthritis (RA) patients and B cell-deficient mice on vaccination/infection with different vaccines/pathogens.ResultsRituximab-treated RA patients vaccinated with Influvac showed reduced expansion of influenza-specific CD8+ T cells when compared with healthy controls. Moreover, B cell-deficient JHT mice infected with mouse-adapted Influenza or modified vaccinia virus Ankara showed less vigorous expansion of virus-specific CD8+ T cells than wild type mice. Of note, JHT mice do not have an intrinsic impairment of CD8+ T cell expansion, since infection with vaccinia virus induced similar T cell expansion in JHT and wild type mice. Direct type I interferon receptor signalling of B cells was necessary to induce several chemokines in B cells and to support T cell help by enhancing the expression of MHC-I.ConclusionsDepending on the stimulus, B cells can modulate CD8+ T cell responses. Thus, B cell depletion causes a deficiency of de novo antibody responses and affects the efficacy of cellular response including cytotoxic T cells. The choice of the appropriate vaccine to vaccinate B cell-depleted patients has to be re-evaluated in order to efficiently induce protective CD8+ T cell responses.

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature

2007 ◽  
Vol 143A (3) ◽  
pp. 265-270 ◽  
Author(s):  
Yuri A. Zarate ◽  
Jillene M. Kogan ◽  
Elizabeth K. Schorry ◽  
Teresa A. Smolarek ◽  
Robert J. Hopkin
Keyword(s):  
Normal Development ◽  
De Novo ◽  
Review Of The Literature

Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia

2021 ◽  
pp. 108788
Author(s):  
Monica T. Kraft ◽  
Regan Pyle ◽  
Xiangyang Dong ◽  
John B. Hagan ◽  
Elizabeth Varga ◽  
...  
Keyword(s):  
B Cell ◽  
Gene Variants ◽  
B Cell Deficiency

De novo CD5-positive diffuse large B-cell lymphoma: clinical characteristics and therapeutic outcome

1999 ◽  
Vol 105 (4) ◽  
pp. 1133-1139 ◽  
Author(s):  
Motoko Yamaguchi ◽  
Toshiyuki Ohno ◽  
Kouji Oka ◽  
Masanori Taniguchi ◽  
Motohiro Ito ◽  
...  
Keyword(s):  
B Cell ◽  
Clinical Characteristics ◽  
De Novo ◽  
Cell Lymphoma ◽  
B Cell Lymphoma ◽  
Therapeutic Outcome ◽  
Large B Cell Lymphoma ◽  
Large B Cell
Sign in / Sign up

Export Citation Format

Share Document