Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency disorder. Symptoms often become apparent at birth or early during infancy or childhood. The disorder is characterized by the triad of highly elevated levels o...

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin inf...

Agammaglobulinemia is a group of inherited immune deficiencies characterized by a low concentration of antibodies in the blood due to the lack of particular lymphocytes in the blood and lymph. Antibodies are proteins (immunoglobulins, (IgM), (IgG)...

Pneumothorax (collapsed lung) is a medical condition in which either the lungs collapse on the whole or only a portion of the lungs collapse. In this condition, the air enters the area between the lungs and chest wall known as a plural stag. ...

Pneumothorax (collapsed lung) is a medical condition in which either the lungs collapse on the whole or only a portion of the lungs collapse. In this condition, the air enters the area between the lungs and chest wall known as a plural stag. ...

Kugelberg Welander syndrome is a milder type of spinal muscular atrophy. It is a rare inherited neuromuscular disorder characterized by wasting and weakness in the muscles of the arms and legs, leading to walking difficulties in, and eventual loss...