Functional Antibody Responses Following Allogeneic Stem Cell Transplantation for TP53 Mutant pre-B-ALL in a Patient With X-Linked Agammaglobulinemia

Discussion This case demonstrates successful cure of pre-B-ALL complicating XLA by alloSCT with restoration of B-cell development and functional antibody response. We are aware of only one previous case of pre-B-ALL in an XLA patient (21), which suggests that human BTK deficiency in itself does not predispose to pre-B-ALL. However, there are data to suggest that BTK may act as a tumor suppressor, and BTK deficiency may predispose to tumor development following a “second hit.” Mice with a genetic deficiency in Slp65, a gene encoding an adaptor protein that functions together with BTK, have a block in progenitor B-cell development and spontaneously develop pre-B-cell leukemia. Concomitant deficiency of Btk and in Slp65-deficient mice enhances development of pre-B-cell leukemia (22). The ALL in our patient contained the dominant negative TP53 R273H mutation. TP53 mutations are found in 4% of all pre-B-ALLs and are a known risk factor for therapy resistance (23). Deficiency of P53 enhances pre-B-ALL formation in Slp65 deficient mice (24). Although BTK/p53 double knockout mice have not been reported to spontaneously develop leukemia, their B-cells demonstrate both a block in development and an enhanced proliferative capacity (25). It is possible in our patient that the somatic TP53 mutation in itself was sufficient to lead to a rapidly progressive and chemoresistant ALL. In our case, the germline BTK mutation may have a been a contributing predisposing factor, but th...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research

Related Links:

Conclusions: The bibliometric analysis allowed to objectively record the productivity and visibility of the Regional System for Vaccines for Streptococcus pneumoniae in the Region. PMID: 32774349 [PubMed]
Source: Pan American Journal of Public Health - Category: International Medicine & Public Health Tags: Rev Panam Salud Publica Source Type: research
Publication date: Available online 11 August 2020Source: Journal of Oral BiosciencesAuthor(s): Sho Akashi, Takashi Nishida, Tomomi Mizukawa, Kazumi Kawata, Masaharu Takigawa, Seiji Iida, Satoshi Kubota
Source: Journal of Oral Biosciences - Category: Biomedical Science Source Type: research
Publication date: Available online 11 August 2020Source: Carbohydrate PolymersAuthor(s): Sevil Vaghefi Moghaddam, Fatemeh Abedi, Effat Alizadeh, Behzad Baradaran, Nasim Annabi, Abolfazl Akbarzadeh, Soodabeh Davaran
Source: Carbohydrate Polymers - Category: Biomedical Science Source Type: research
Publication date: Available online 11 August 2020Source: Carbohydrate PolymersAuthor(s): Jingwen Luo, Tao Gong, Lixin Ma
Source: Carbohydrate Polymers - Category: Biomedical Science Source Type: research
Publication date: July 2020Source: Biomedical and Environmental Sciences, Volume 33, Issue 7Author(s): Fei Ran WEI, Li Lin XIONG, Wei LI, Xue Rong WANG, Xin HONG, Bao An CHEN
Source: Biomedical and Environmental Sciences - Category: Biomedical Science Source Type: research
Publication date: July 2020Source: Biomedical and Environmental Sciences, Volume 33, Issue 7Author(s): Qing Ming SHU, Xin Guo CHEN, Hong Ying ZHANG, Li Hong HUANG, Yong Liang ZHANG, Qing ZHANG
Source: Biomedical and Environmental Sciences - Category: Biomedical Science Source Type: research
Publication date: July 2020Source: Biomedical and Environmental Sciences, Volume 33, Issue 7Author(s): Cheng WANG, Yu Ming SHEN, Feng Jun QIN, Xiao Hua HU
Source: Biomedical and Environmental Sciences - Category: Biomedical Science Source Type: research
Publication date: July 2020Source: Biomedical and Environmental Sciences, Volume 33, Issue 7Author(s): Yong Pei YU, Jiang Ting CHEN, Zhi Wei JIANG, Ling WANG, Cheng Kai YU, Xiao Yan YAN, Chen YAO, Jie Lai XIA
Source: Biomedical and Environmental Sciences - Category: Biomedical Science Source Type: research
CONCLUSIONS: Future initiatives to engage preconception women should span the social-ecological model of health and consider women's personal preferences for accessible and tailored preconception health information and support at individual, interpersonal, community and organisational levels, as well as in the broader environment. SO WHAT?: This research provides guidance to those in health promotion when planning future initiatives to promote and protect women's preconception health. PMID: 32780533 [PubMed - as supplied by publisher]
Source: Health Promotion Journal of Australia - Category: International Medicine & Public Health Tags: Health Promot J Austr Source Type: research
CONCLUSIONS: Survey data indicates UV radiation is inconsistently understood by PSTs. Many felt they did not have the required knowledge or skill to teach sun safety effectively. SO WHAT?: Improving PSTs UV radiation knowledge while at university is a potential opportunity to improve sun safety delivery in primary schools. A targeted intervention for PSTs is warranted. PMID: 32770684 [PubMed - as supplied by publisher]
Source: Health Promotion Journal of Australia - Category: International Medicine & Public Health Tags: Health Promot J Austr Source Type: research
More News: Academia | Acute Leukemia | Acute Lymphoblastic Leukemia | Acute Myeloid Leukemia | Allergy | Allergy & Immunology | Anemia | Asthma | Australia Health | Azithromycin | Bone Graft | Bone Marrow Aspiration and Biopsy | Bone Marrow Transplant | Burns | Cancer | Cancer & Oncology | Cancer in Adolescents | Cancer in Young Adults | Cancer Vaccines | Chemistry | Chemotherapy | Child Development | Childhood Cancer | Children | Chronic Leukemia | Conjunctivitis | Cough | Databases & Libraries | Environmental Health | Fish | France Health | Funding | Genetics | Germany Health | Haemophilus Influenzae (Hib) | Hospitals | Influenza Vaccine | Laboratory Medicine | Lessons | Leukemia | Lung Transplant | Medical Ethics | Men | Meningitis Vaccine | Methotrexate | Oral Cancer | Otitis | Otitis Media | Pathology | Pediatrics | Pneomococcal Vaccine | Pneumonia | Prednisolone | Primary Immunodeficiency Disease | Reproduction Medicine | Research | Respiratory Medicine | Restasis | Sickle Cell Anemia | Sinusitis | Skin | Skin Biopsy | Statistics | Stem Cell Therapy | Stem Cells | Study | Tetanus Diptheria Pertussis Vaccine Tdap,Dtap,Dpt | Toxicology | Transitional Cell Carcinoma | Translocation | Transplant Surgery | Transplants | UK Health | USA Health | Vaccines | Wales Health | Weight Loss | X-Linked Agammaglobulinemia (XLA) | Zithromax