Results 171 to 180 of about 161,849 (206)

X-LINKED AGAMMAGLOBULINEMIA

Immunology and Allergy Clinics of North America, 2001
B-lymphocyte development is essential for production of functional antibody and humoral immune responses. The mechanisms that regulate this process are complex and tightly regulated. Defects in nonredundant components of this pathway lead to a clinical and immunologic syndrome of congenital agammaglobulinemia with absence of B-cell development.
Hubert B. Gaspar, Christine Kinnon
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Neutropenia in X-Linked Agammaglobulinemia

Clinical Immunology and Immunopathology, 1996
X-linked agammaglobulinemia (XLA) is usually considered a disorder of B cell development; however, the gene that is defective in XLA encodes a cytoplasmic tyrosine kinase called Btk, that is expressed throughout myeloid as well as B cell differentiation. A review of medical records of patients in whom mutations in Btk had been identified indicated that
Jason E. Farrar, Jason E. Farrar, Mary Ellen Conley, Mary Ellen Conley, Jurg Rohrer   +4 more
openaire   +3 more sources

X-Linked agammaglobulinemia and gastric adenocarcinoma

Cancer, 1993
The incidence and mortality rate for cancer in patients with primary immunodeficiency diseases have increased greatly. Lymphomas constitute more than 50% of tumors identified in the Immunodeficiency Cancer Registry, but solid tumors are frequent in these patients, especially gastric carcinomas.
Gumersindo Fontán, Miguel L. Dupla, Paz Lavilla, Vicente Pintado, Antonio Gil, María Cruz Rodríguez   +5 more
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Giardiasis with Malabsorption in X-Linked Agammaglobulinemia

New England Journal of Medicine, 1972
GASTROINTESTINAL disease is common among patients with variable immunodeficiency syndromes (IDS),1 2 3 4 but is rarely seen in patients with infantile X-linked agammaglobulinemia.2 , 5 In a recent study, Giardia lamblia was found to be the cause of gastrointestinal symptoms in seven of eight cases of variable IDS.6 G.
Starkey D. Davis, Hans D. Ochs, Marvin E. Ament   +2 more
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Progressive Encephalopathy Associated with X-Linked Agammaglobulinemia

European Neurology, 1982
Bruton type agammaglobulinemia is an X-linked disease with humoral immunological deficiency. Children with congenital agammaglobulinemia develop bacterial infections easily.
T. Sacquegna, Pazzaglia P, Baldrati A, D'Alessandro R, De Carolis P, Masi M, Fantini MP, PAOLUCCI, Paolo   +7 more
openaire   +4 more sources

Colocalization of X-Linked Agammaglobulinemia and X-Linked Immunodeficiency Genes

Science, 1993
Mice that bear the X-linked immunodeficiency ( xid ) mutation have a B lymphocyte-specific defect resulting in an inability to make antibody responses to polysaccharide antigens. A backcross of 1114 progeny revealed the colocalization of xid with Bruton's agammaglobulinemia tyrosine kinase (
V. Chapman, Paschalis Sideras, W. E. Paul, Igor Vorechovsky, C. I. E. Smith, J. D. Thomas   +5 more
openaire   +3 more sources

The Quality of Life of Children and Adolescents with X-Linked Agammaglobulinemia

Journal of Clinical Immunology, 2008
The health-related quality of life in X-linked agammaglobulinemia was investigated in 25 children and adolescents patients through the Italian version of Pediatric Quality of Life Inventory 4.0 Generic Core Scale for patients aged less then 18 years, comparing child perception to that of the parents and the physician's evaluation.
Soresina A, Nacinovich R, Bomba M, Cassani M, Molinaro A, Sciotto A, Martino S, Cardinale F, De Mattia, D, Putti C, Dellepiane RM, Felici L, Parrinello G, Neri F, Plebani A, Pierani P, DeMattia D, Martire B, Armenio L, Cardinale F, Dammacco F, Ranieri G, Masi M, Miniaci A, Pession A, Rondelli R, Plebani A, Notarangelo LD, Soresina A, Cao A, Cossu F, DEL GIACCO, STEFANO, MANCONI, PAOLO EMILIO, Evangelista I, Magro S, Morgione S, Strisciuglio P, Anastasio E, Schillirò G, Sciotto, A, Paganelli R, Sticca M, Sperlì D, Carpino L, Bernini G, Azzari C, Maggi E, Romagnani S, Matucci A, Vultaggio A, Castagnola E, Gattorno M, Presta G, Civino A, Gambaretto G, Fasoli S, Salpietro C, Pietrogrande MC, Delle Piane, RM, Panisi C, Cambiaghi G, Pietrogrande M, Roncarolo MG, Aiuti A, Masera G, Biondi A, Sala A, Pignata C, Poggi V, Menna G, Di Nardo R, D'Apuzzo A, Pelliccia A, Correra A, Marone G, Spadaro G, Carli M, Zanesco L, Basso G, Putti MC, Semenzato G, Agostini C, Amato GM, Aricò M, Trizzino A, Izzi G, Bertolini P, Locatelli F, Zecca M, Rondini G, Marseglia GL, Maccario R, Bossi G, Felici L, Favre C, Consolini R, Vecchi V, Sacchini P, Rinaldi G, Ugazio AG, Rossi, P, Livadiotti S, Cancrini C., Finocchi A, Stabile A, Duse M, Iacobini M, Quinti I, Moschese V, Cecere F, Morgese G, Acquaviva A, De Zan G, Strafella S, Tamaro P, Rabusin M, Tovo PA, Martino S, Nespoli L, Marinoni M, Porcellini A, Cazzola GA   +123 more
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Genotype/phenotype correlations in X-linked agammaglobulinemia

Clinical Immunology, 2006
No clear genotype/phenotype correlations have been established in patients with X-linked agammaglobulinemia (XLA). To determine if the specific mutation in Btk might be one of the factors that influences the severity of disease or if polymorphic variants in Tec, a cytoplasmic tyrosine kinase that might substitute for Btk, could contribute to the ...
Mary Ellen Conley, Mary Ellen Conley, Arnon Broides, Wenjian Yang   +3 more
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Multiple Colorectal Neoplasms in X-Linked Agammaglobulinemia

Clinical Gastroenterology and Hepatology, 2008
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutation of the Bruton tyrosine kinase (BTK) gene. It is characterized by disturbed B-cell development, decreased immunoglobulin levels, and increased patient susceptibility to infection.
Ineke J.M. Ten Berge, G. Johan A. Offerhaus, Folkert H.M. Morsink, Francis M. Giardiello, Richard J. Sinke, Kristien M.A.J. Tytgat, Lodewijk A.A. Brosens, Josbert J. Keller   +7 more
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X-Linked agammaglobulinemia in a child with Klinefelter’s syndrome

Journal of Clinical Immunology, 2014
Bruton's agammaglobulinemia is a rare X-linked humoral immunodeficiency manifesting with recurrent bacterial infections early in life. Klinefelter's syndrome caused by an additional X chromosome is the most common sex chromosome disorder. A previously unreported association of these two conditions is described here.
Cochino, Alexis-Virgil, Janda, Ales, Ravčuková, Barbora, Plaiasu, Vasilica, Ochiana, Diana, Gherghina, Ioan, Freiberger, Tomas   +6 more
openaire   +4 more sources