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Immune dysregulation can lead to autoimmunity and autoinflammation. The goal of treatment is to balance targeted therapies while avoiding infections or other side effects, which becomes complicated with multiple diagnose...

SASH3 deficiency is an X-linked combined immunodeficiency characterized by recurrent sinopulmonary, cutaneous, and mucosal infections, refractory autoimmune cytopenia, and immune dysregulation. We report here the first t...

Abstract Objective Streptococcus agalactiae is an important pathogen in neonates and pregnant women. Neonatal invasive infections due to S. agalactiae are life-threatening and preventive strategies for this challenge o...

ABSTRACT Introduction Antimicrobial resistance (AMR) is a global health crisis that poses a devastating and specific threat to immunocompromised cancer patients, who are heavily reliant on antibiotics to navigate high‐...

BackgroundPrimary ciliary dyskinesia (PCD) management relies on mucociliary clearance to prevent bronchiectasis. While humoral immunodeficiencies have been reported in PCD, their clinical significance remains under-defin...

Abstract Background Cerebral toxoplasmosis is a rare but potentially fatal opportunistic infection in non-HIV immunocompromised patients, particularly after allogeneic hematopoietic stem cell transplantation (allo-HSCT)....

Central nervous system (CNS) involvement by CLL is rare. We report a non-treated CLL patient with low-risk factors, but showed leptomeningeal involvement during/after neuroborreliosis and EBV meningitis. An 80-year-old w...

Films based on biopolymers and loaded with antimicrobial agents are convenient pharmaceutical dosage forms for topical application. Inorganic carriers loaded with these agents lead to composite materials, which combined ...

S-adenosylhomocysteine (SAH) hydrolase deficiency is a rare autosomal recessive disorder caused by pathogenic variants of the gene AHCY. Loss of SAH hydrolase causes SAH accumulation and impairs the methionine/S-adenosyl...

Post-transplant cyclophosphamide (PTCy) is increasingly used for graft-versus-host disease (GVHD) prophylaxis in allogeneic hematopoietic stem cell transplantation (alloHCT), across both haploidentical and HLA-matched do...

Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive combined immunodeficiency marked by severe atopy, recurrent viral and bacterial infections, high immunoglobulin E, eosinophilia, and lymphopenia...

CTLA4 haploinsufficiency is caused by mutations in the CTLA4 gene. The loss of this important immune checkpoint leads to uncontrolled production of lymphocytes, causing infiltration of T cells into multiple organs (gastr...

BackgroundTranscription factor forkhead box protein N1 (FOXN1) is the master transcription factor required for differentiation and maintenance of thymic epithelial cells (TECs) and is not only required for embryonic thym...

Emily Kutrieb,1 Derek Weycker,1 Montserrat Vera-Llonch,2 Arthur Zbrozek,3 Kevin Ottino,1 William R Lumry4 1Avalere Health, Washington, DC, USA; 2Ionis Pharmaceuticals, Boston, MA, USA; 3Ionis Pharmaceuticals, Carlsbad, C...

Abstract Background Public pressure exists in the United States to eliminate race‐day furosemide administration despite its efficacy in decreasing the severity of equine exercise pulmonary hemorrhage (EIPH). No effecti...

BackgroundX-linked hyper-IgM syndrome (XHIM) due to CD40L deficiency typically presents in early childhood with recurrent sinopulmonary or opportunistic infections, and its initial manifestations can be misleading. We re...

Background/Aim: The purpose of this study was to investigate the antibiotic prescribing patterns for the treatment of paediatric oral infection, dental trauma and prophylaxis among dentists in Turkey.

Reticular dysgenesis (RD) is a rare, severe form of severe combined immunodeficiency (SCID) caused by biallelic AK2 mutations, leading to profound defects in lymphoid and myeloid maturation. Unlike other SCID phenotypes,...

BackgroundEarly complement pathway deficiencies predispose to invasive infections with encapsulated bacteria. C2 deficiency is the most common human complement deficiency, yet it may remain clinically silent until a life...

Background: Octocog alfa and rurioctocog alfa pegol have demonstrated efficacy in the prevention and management of bleeding associated with hemophilia A (HA) in clinical trials. The German AHEAD study (DRKS00000556) was ...

Sexual assault nurse examiners (SANE) or Forensic nurse examiners (FNE) are fully qualified nurses, trained to gather forensic evidence in rape and sexual assault cases. This review compares the reliability and efficacy ...

NCKAP1L encodes hematopoietic protein-1 (HEM1), a component of the WASp family verproline-homologous protein (WAVE) actin regulatory complex, activated downstream of multiple immune receptors. HEM1 deficiency disrupts WA...

Abstract Background Rheumatic heart disease (RHD) remains a leading cause of morbidity and mortality in Sub-Saharan Africa despite widely available preventive therapies such as prophylactic benzathine penicillin G (BPG)....

BackgroundChronic granulomatous disease (CGD) is characterized by defective neutrophil oxidative burst activity with subsequent susceptibility to catalase-positive organisms, invasive fungal infections, in addition to in...