Ocular Manifestations of Inherited Phospholipase-Cγ2–Associated Antibody Deficiency and Immune Dysregulation

Immune dysregulation in patients with TRNT1 deficiency

Objective To investigate the pathogenesis of disease in patients with the deficiency of the CCA-adding enzyme tRNA nucleotidyltransferase 1 (TRNT1). The TRNT1 enzyme catalyzes an essential step for tRNA maturation and protein synthesis, however it is largely unknown how abnormalities in this pathway lead to inflammation and immunodeficiency. Patients and Methods: Whole exome sequencing (WES) wa...

Pulmonary manifestations of immune deficiency diseases.

The defense of the respiratory system against infection involves a complex interplay of the humoral immune system and the cellular immune system with complement and phagocytic cells. The respiratory tract is an important portal of entry for infection, and it is therefore not surprising that many immune deficiencies present initially with a respiratory infection. Thus, pediatric pulmonologists m...

Ocular manifestations of the antineutrophil cytoplasmic antibody and antiphospholipid syndromes

Sir, I would like to correct my comment in my original letter,[1] commenting on the article published by Rishi et al.,[2] which is “ this condition is unlikely to occur on ground of embryology, as the central retinal artery develops from a single hyaloid artery and enters the lamina cribrosa.” Now, my attention has been drawn by Dr. S S Hayreh that on certain occasions it is possible to have tw...

Ocular manifestations of hypertension

Ocular Manifestations of Brucellosis

Brucellosis is considered a zoonotic disease which is still an important health problem in endemic areas such as the Middle East, the Mediterranean, and Asia. Brucellosis is a sys‐ temic infection that might affect any organ or system in the body. Ocular involvement has been reported in 21% of brucellosis patients. The most common ocular manifestations of brucellosis were considered as anterior...