Defining a new immune deficiency syndrome: MAN2B2-CDG

A new case of ALG 8 deficiency ( CDG

Congenital disorders of glycosylation (CDG) represent an expanding group of inherited diseases. One of them, ALG8 deficiency (CDG Ih), leads to protein N-glycosylation defects caused by malfunction of glucosyltransferase 2 (Dol-P-Glc:Glc1-Man(9)-GlcNAc(2)-P-P-Dol glucosyltransferase) resulting in inefficient addition of the second glucose residue onto lipid-linked oligosaccharides. So far, only...

Acquired immune deficiency syndrome.

The first Australian case of acquired immune deficiency syndrome (AIDS), which occurred in a 27-year-old homosexual man, is reported. The patient, an American citizen now resident in Sydney, presented with life-threatening pulmonary consolidation. AIDS is characterized by severe defects in cell-mediated immunity associated with infections and neoplasms (most commonly Pneumocystis carinii pneumo...

Acquired immune deficiency syndrome.

Acquired immune deficiency syndrome (AIDS). A review.

Acquired immune deficiency syndrome (AIDS) is a newly recognized disease of unknown etiology, characterized by deregulation of the cell-mediated immune function system and manifested by opportunistic infections, unusual neoplasms (particularly Kaposi's sarcoma) in previously healthy persons. Male homosexuals, drug addicts, Haitian immigrants, and hemophiliacs constitute the group at high risk o...

Severe combined immune deficiency syndrome.

OBJECTIVE To determine the clinico-demographic features and laboratory parameters of children with severe combined immunodeficiency (SCID). STUDY DESIGN Case series. PLACE AND DURATION OF STUDY Department of Paediatrics and Child Health, the Aga Khan University, Karachi, from July 2006 to July 2011. METHODOLOGY Thirteen infants who were discharged with a diagnosis of SCID were inducted in...