Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients.

Purpose: Complete interferon-γ receptor 1 (IFN-γR1) deficiency is a primary immunodeficiency causing predisposition to severe infection due to intracellular pathogens. Only 36 cases have been reported worldwide. The purpose of this article is to describe a large novel deletion found in 3 related cases, which resulted in the complete removal of the IFNGR1 gene.

Serious complications of pulmonary biopsy in a boy with chylopericardium and suspected pulmonary lymphangiomatosis.

Lymphangiomatosis is a rare disorder. It is commonly localised in the skeletal system and called Gorham's disease, and in thoracic or abdominal organs. Involvement of the pericardium is rare and has been described in less than 20 patients worldwide.

[Diagnostic image. A girl with cramp and tingling of the hands].

An 8-year-old girl presented with cramp and tingling of the hands due to hypocalcaemia caused by pseudohypoparathyroidism.