Congenital immunoglobulin deficiency syndrome

WHIM syndrome: congenital immune deficiency disease.

PURPOSE OF REVIEW Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is characterized by susceptibility to human papilloma virus infection-induced warts and carcinomas; neutropenia, B-cell lymphopenia and hypogammaglobulinema-related infections; and bone marrow myelokathexis (myeloid hyperplasia with apoptosis). The purpose of this report is to review new findings about...

Importace of monoclonal immunoglobulin in Sjögren’s syndrome

Background: Sjögren’s syndrome is the second most common systemic autoimmune disease after rheumatoid arthritis, RA, with a prevalence of about 0.5% in the general population. It occurs primarily in perimenopausal women (at a ratio of women to men of 9: 1) Sjögren’s syndrome is characterized by lymphocytic infiltration to exocrine glands. The specific autoantibodies of this syndrome are against...

Specific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency.

Immunoglobulin (Ig) A deficiency has long been recognized in patients with chromosome 18 abnormalities. We present the case of a young girl in whom a chromosome 18p deletion syndrome (46,XX,del[18][p11.1]) was associated not only with IgA deficiency, but also with an inability to make antibody to the unconjugated pneumococcal polysaccharide vaccine, Pneumovax II, indicating a concomitant specif...

Congenital Pancreatic Lipase Deficiency.

The purpose of this communication is to record two families, each consisting of two children. The four children have presented an identical clinical picture associated with a congenital severe reduction of pancreatic lipase, and have responded to persistent treatment with lipase given as pancreatin. A brief reference was made to Case 1 in the Charles West Lecture, delivered before the Royal Col...

Tendon Transfer in Congenital Deficiency of Flexor Pollicis Longus