This review, based on a talk given at the RCPE Respiratory Medicine Symposium 2014, outlines the clinical spectrum of immune deficiency - antibody (B cell) deficiency, T cell defects and innate/phagocytic disorders - and discusses the relevant clinical presentations, investigations and treatments, focusing particularly on the management of adults with recurrent respiratory infections. It descri...

BACKGROUND There are limited studies of large cohorts of patients with specific polysaccharide antibody deficiency (SPAD) syndrome. OBJECTIVE To study the clinical and laboratory characteristics of patients with specific polysaccharide antibody deficiency syndrome. METHODS We retrospectively studied 75 patients with total IgG levels of at least 500 mg/dL and fewer than 9 of 12 responses to ...

The endocrine function and pituitary imaging in Sheehan's syndrome more than 30 years after causative events were evaluated. Magnetic resonance imaging (MRI), a combined anterior pituitary test, plasma vasopressin-to-osmolality adaptation study, and antithyroid and antipituitary cell antibody measurement were performed in 6 women with Sheehan's syndrome. The interval from delivery to the onset ...

Deficiencies in transmembrane activator and CAML interactor (TACI) result in common variable immune deficiency, a syndrome marked by recurrent infections with encapsulated microorganisms, impaired production of antibodies, and lymphoproliferation. How TACI promotes antibody production and inhibits lymphoproliferation is not understood. To answer this question, we studied the generation of immun...

The presence of antibodies to cardiolipin was determined (by an ELISA) in 143 patients with primary immunodeficiency diseases. Thirty (21%) had raised anticardiolipin antibody levels compared with only three in 98 age matched controls. The highest prevalence of this autoantibody was found in the Wiskott-Aldrich syndrome. Patients with selective IgA deficiency also showed a high prevalence of th...

Secondary antibody deficiency can occur as a result of haematological malignancies or certain medications, but not much is known about the clinical and immunological features of this group of patients as a whole. Here we describe a cohort of 167 patients with primary or secondary antibody deficiencies on immunoglobulin (Ig)-replacement treatment. The demographics, causes of immunodeficiency, di...

The presence of antibodies to cardiolipin was determined (by an ELISA) in 143 patients with primary immunodeficiency diseases. Thirty (21%) had raised anticardiolipin antibody levels compared with only three in 98 age matched controls. The highest prevalence of this autoantibody was found in the Wiskott-Aldrich syndrome. Patients with selective IgA deficiency also showed a high prevalence of th...

In 2012, a 50 year-old athletic male presented with weakness, pain and unilateral phrenic paralysis, followed by bilateral phrenic paralysis with deep dyspnea. In 2013, the Parsonage-Turner syndrome was diagnosed. When the patient was seen in September 2014 for the first time, he was facing phrenic neuromuscular failure, which led to the hypothesis of neurotropic herpes viruses. A control of th...