Results 31 to 40 of about 236,394 (247)

Autoinflammatory disease syndrome of hyperimmunoglobulinemia D

Медицинский вестник Юга России, 2022
Objective: present a clinical case of a rare autoinflammatory disease. Materials and methods: an analysis of a clinical case of mevalonate kinase deficiency syndrome in an 8-year-old girl was carried out.
T. M. Somova
doaj   +1 more source

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature

Frontiers in Immunology, 2022
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative multisystem disorder. A minority of AT patients can present late-onset atypical presentations due to unknown mechanisms.
Tannaz Moeini Shad, Tannaz Moeini Shad, Reza Yazdani, Reza Yazdani, Reza Yazdani, Parisa Amirifar, Parisa Amirifar, Samaneh Delavari, Samaneh Delavari, Marzieh Heidarzadeh Arani, Seyed Alireza Mahdaviani, Mahnaz Sadeghi-Shabestari, Asghar Aghamohammadi, Nima Rezaei, Nima Rezaei, Nima Rezaei, Hassan Abolhassani, Hassan Abolhassani, Hassan Abolhassani, Hassan Abolhassani   +19 more
doaj   +1 more source

Family physician perspectives on primary immunodeficiency diseases

Frontiers in Medicine, 2016
Primary immunodeficiency diseases (PID) include over 250 diverse disorders. The current study assessed management of PID by family practice physicians.
Jordan eOrange, Filiz O. Seeborg, Vivian eHernandez-Trujillo, Christopher eScalchunes, Marcia eBoyle   +4 more
doaj   +1 more source

Prevalence of 21 Physician‐Defined Severe Toxicities Following Childhood Acute Lymphoblastic Leukemia Treatment: Australian Retrospective Cohort Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer, with an overall survival now surpassing 90% in developed countries. However, treatments are not without adverse effects. In this study, we apply the severe toxicity‐free survival (STFS) framework to determine the prevalence of 21 physician‐defined severe ...
Lane Collier, Brittany Grantham, Camilla Grud Nielsen, Louise Lundgren, Liv Andrés‐Jensen, Kjeld Schmiegelow, Chris Selman, Gareth Ball, Elyse Passmore, David A. Elliott, Rachel Conyers   +10 more
wiley   +1 more source

Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall, Emma N. Harrison, Genevieve C. Kendall   +2 more
wiley   +1 more source

Evaluation of MicroRNA-125b-5p and Transcription Factors BLIMP1 and IRF4 Expression in Unsolved Common Variable Immunodeficiency Patients

Iranian Journal of Allergy, Asthma and Immunology, 2021
Common variable immunodeficiency (CVID) is the most prevalent form of symptomatic primary humoral immunodeficiencies characterized by failure in the final differentiation of B lymphocytes. The majority of CVID cases have no identified genetic defect, and
Zahra Hamidi Esfahani, Reza Yazdani, Sepideh Shahkarami, Fateme Babaha, Hassan Abolhassani, Maryam Sadr, Ali Akbar Pourfathollah, Asghar Aghamohammadi   +7 more
doaj   +1 more source

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

A patient with complete IFN-γR1 deficiency and tuberculosis resembling BCG diseaseIFN-γR1 deficiency and Mycobacterium tuberculosis [PDF]

Journal of Human Immunity
We present a case of a patient with a deleterious variant in IFNGR1 who contracted Mycobacterium tuberculosis. However, the patient presented with clinical manifestations suggestive of BCG infection.
Sara Espinosa-Padilla, Héctor Gómez-Tello, Carlos Sanchez-Flores, Uriel Pérez-Blanco, Tiareth Cova-Guzmán, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Lizbeth Blancas-Galicia   +7 more
doaj   +1 more source

Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?

FEBS Letters, EarlyView.
This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes, Guilherme M. Azevedo, Amanda P. Barcellos, Diana Bahia   +3 more
wiley   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source