John Sleasman

OVERVIEW: What every practitioner needs to know Are you sure your patient has 22q11.2 deletion syndrome? What are the typical findings for this disease? Dr. Angelo DiGeorge originally described “DiGeorge Syndrome” in 1965, as a triad of congenital absence of the thymus, hypoparathyroidism and aortic arch anomalies resulting in poor T cell production with susceptibility…

OVERVIEW: What every practitioner needs to know Selective Antibody Deficiency (SAD), also known as specific antibody deficiency or partial antibody deficiency with impaired polysaccharide responsiveness, is a primary immune deficiency disease (PIDD) resulting from an individual’s inability to make antibodies to polysaccharide antigens found within encapsulated bacteria. Total immunoglobulin (Ig) levels and other assessments of…

OVERVIEW: What every practitioner needs to know Severe Combined Immune Deficiency (SCID) syndromes are a heterogeneous group of disorders that lead to profound immune impairment and dysregulation. If unrecognized and treated in early infancy, most forms of SCID will result in death during early childhood. The most common causes of death are opportunistic infections, although…