5th anniversary

New discoveries are improving our understanding of 22q11.2 deletion syndrome.

Collaboration between authors and journal staff can contribute to expand the reach of Primers, including to areas where they would be most useful.

Reviews authored by experts with complementary experience can produce articles that provide a broad, overarching overview of a field.

Comprehensive review articles written by international experts are important to provide readers from diverse backgrounds with an expanding knowledge base.

Summarizing a vast body of literature without losing meaningful information is a huge task, but the field — and patients — can benefit from these projects.

22q11.2 deletion syndrome is the most common chromosomal microdeletion disorder and is characterized by a heterogeneous presentation involving multiple organ systems. In this Primer, McDonald-McGinn et al. focus on the current understanding of the phenotype and the genetic underpinnings.

Tuberculosis (TB) is an airborne infectious disease with high morbidity and mortality rates, especially in low-income countries. Advances in diagnosis and treatment have been made, but new vaccines and drugs are needed to achieve the goal of the End TB Strategy by 2035.

Parkinson disease is a common neurodegenerative disorder that is characterized by neuronal loss in the substantia nigra, which causes striatal dopamine deficiency. In this Primer, Poewe et al. discuss the epidemiology, pathophysiology, diagnosis and management of Parkinson disease.

Rheumatoid arthritis is a chronic, inflammatory, autoimmune disease that primarily affects the joints. This Primer by Smolen et al. provides the latest insights into the epidemiology, genetics, pathophysiology, diagnostic approaches, clinical assessment and management of rheumatoid arthritis.

Breast cancer is the most frequent malignancy in women worldwide. Patients are managed on the basis of the key molecular and histological features underpinning their disease and its stage. This Primer discusses these issues, covering both early and advanced disease.

22q11.2 deletion syndrome is clinically variable, causing palatal anomalies, immune dysfunction, endocrine abnormalities and cognitive and behavioural delays, among others. This PrimeView focuses on the aetiology, which involves the deletion of a fragment of chromosome 22 (22q11.2).

This PrimeView highlights the complex nature of Mycobacterium tuberculosis infection; it can remain latent and asymptomatic in the lungs or progress to active tuberculosis disease, which requires prolonged treatment with multiple antibiotics and has high morbidity and mortality in high-burden, resource-poor settings.

Parkinson disease is a neurodegenerative disorder associated with dopamine depletion in the basal ganglia. This PrimeView focuses on the clinical course of Parkinson disease, in which non-motor symptoms, such as loss of smell and sleep disorders, can develop years before the onset of motor symptoms.

Rheumatoid arthritis is a chronic inflammatory joint disease of autoimmune nature. This PrimeView focuses on the pathophysiology of the cartilage damage and bone erosion — the cardinal signs of rheumatoid arthritis.

This PrimeView highlights the management of breast cancer, the most frequent malignancy in women.