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We undertook clinical, immunologic, and endocrinologic studies of a family in which two brothers and their two maternal uncles had a similar disorder characterized by hypogammaglobulinemia and isolated growth hormone deficiency. Recurrent sinopulmonary infections were a prominent feature in two patients. All patients had short stature and retarded bone age during childhood, and the adults had delayed onset of puberty. The immunodeficiency was characterized by absent specific antibody production in vivo and impaired immunoglobulin production in vitro. Three of the four patients lacked circulating B lymphocytes, even though tonsils were present in those patients. All patients had deficient growth hormone responses to insulin and arginine or levodopa. These patients have an X-linked recessive disorder, but their immunodeficiency differs from the X-linked immune disorders in the World Health Organization classification; their X-linked pattern of growth hormone deficiency, without other endocrine abnormality, is also unique.
T A Fleisher, and
R M White, and
S Broder, and
S P Nissley, and
R M Blaese, and
J J Mulvihill, and
G Olive, and
T A Waldmann
January 2008,
Immunologic research,
T A Fleisher, and
R M White, and
S Broder, and
S P Nissley, and
R M Blaese, and
J J Mulvihill, and
G Olive, and
T A Waldmann
January 2007,
Immunologic research,
T A Fleisher, and
R M White, and
S Broder, and
S P Nissley, and
R M Blaese, and
J J Mulvihill, and
G Olive, and
T A Waldmann
December 2005,
Current opinion in allergy and clinical immunology,
T A Fleisher, and
R M White, and
S Broder, and
S P Nissley, and
R M Blaese, and
J J Mulvihill, and
G Olive, and
T A Waldmann
May 2006,
Nihon rinsho. Japanese journal of clinical medicine,
T A Fleisher, and
R M White, and
S Broder, and
S P Nissley, and
R M Blaese, and
J J Mulvihill, and
G Olive, and
T A Waldmann
January 2000,
Ryoikibetsu shokogun shirizu,
T A Fleisher, and
R M White, and
S Broder, and
S P Nissley, and
R M Blaese, and
J J Mulvihill, and
G Olive, and
T A Waldmann
September 1995,
Journal of immunology (Baltimore, Md. : 1950),
T A Fleisher, and
R M White, and
S Broder, and
S P Nissley, and
R M Blaese, and
J J Mulvihill, and
G Olive, and
T A Waldmann
February 1990,
The Journal of pediatrics,
T A Fleisher, and
R M White, and
S Broder, and
S P Nissley, and
R M Blaese, and
J J Mulvihill, and
G Olive, and
T A Waldmann
March 2006,
European journal of pediatrics,
T A Fleisher, and
R M White, and
S Broder, and
S P Nissley, and
R M Blaese, and
J J Mulvihill, and
G Olive, and
T A Waldmann
January 1993,
Ryoikibetsu shokogun shirizu,
T A Fleisher, and
R M White, and
S Broder, and
S P Nissley, and
R M Blaese, and
J J Mulvihill, and
G Olive, and
T A Waldmann
May 1991,
Acta paediatrica Scandinavica,
