Combined therapy with IL-1 and JAK inhibitors in a patient with the gene mutation and a complex inflammatory phenotype.

A patient presented with overlapping clinical and laboratory features of 2 rare autoinflammatory diseases, NLRP1-associated autoinflammation with arthritis and dyskeratosis and familial multiple self-healing palmoplantar carcinoma. Her severe inflammatory attack was treated with the IL-1 receptor-α inhibitor anakinra along with the Janus kinase inhibitor ruxolitinib. Three years into the treatment, the patient's inflammatory symptoms are completely in remission.

Rituximab and Abatacept Are Effective in Differential Treatment of Interstitial Lymphocytic Lung Disease in Children With Primary Immunodeficiencies.

Background: Interstitial lymphocytic lung disease (ILLD), a recently recognized complication of primary immunodeficiencies (PID), is caused by immune dysregulation, abnormal bronchus-associated lymphoid tissue (BALT) hyperplasia, with subsequent progressive loss of pulmonary function. Various modes of standard immunosuppressive therapy for ILLD have been shown as only partially effective.

Objectives: To retrospectively evaluate the safety and efficacy of abatacept or rituximab in treatment of ILLD in children with PID.

Complex Multisystem Phenotype With Immunodeficiency Associated With Mutations: Reports of Three Patients and Review of the Literature.

Mutations in the neuroblastoma-amplified sequence () gene were originally described in patients with skeletal dysplasia or isolated liver disease of variable severity. Subsequent publications reported a more complex phenotype. Among multisystemic clinical symptoms, we were particularly interested in the immunological consequences of the deficiency.

Competitive Nucleation Mechanism for CsPbBr Perovskite Nanoplatelet Growth.

We analyze nucleation-controlled nanocrystal growth in a solution containing surface-binding molecular ligands, which can also nucleate compact layers on the crystal surfaces. We show that, if the critical nucleus size for ligands is larger and the nucleation barrier is lower than those for crystal atoms, the ligands nucleate faster than the atoms on relatively wide crystal facets but much slower, if at all, on narrow facets. Such competitive nucleation of ligands and atoms results in ligands covering predominantly wider facets, thus excluding them from the growth process, and acts as a selection mechanism for the growth of crystals with narrower facets, the so-called nanoplatelets.