Results 141 to 150 of about 5,617 (179)
Atypical X-Linked Agammaglobulinemia [PDF]
New England Journal of Medicine, 1994 To the Editor: The letter of Kornfeld et al. raises two separate questions: Do some patients with mild hypogammaglobulinemia have defects in the same gene as patients with typical X-linked agammaglobulinemia?
S J, Kornfeld, R A, Good, G W, Litman
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Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality [PDF]
Journal of Allergy and Clinical Immunology, 2020 X-linked agammaglobulinemia (XLA) is the prototype of primary humoral immunodeficiencies.
Rita Consolini +2 more
exaly +3 more sources
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The Indian Journal of Pediatrics, 2016
X-linked agammaglobulinemia (XLA) is one of the commonest primary immune deficiencies encountered in pediatric clinical practice. In adults, common variable immunodeficiency (CVID) is the most common primary immunodeficiency disease (PID). It is an X-linked disorder characterized by increased susceptibility to encapsulated bacteria, severe ...
Deepti, Suri, Amit, Rawat, Surjit, Singh
+5 more sources
X-linked agammaglobulinemia (XLA) is one of the commonest primary immune deficiencies encountered in pediatric clinical practice. In adults, common variable immunodeficiency (CVID) is the most common primary immunodeficiency disease (PID). It is an X-linked disorder characterized by increased susceptibility to encapsulated bacteria, severe ...
Deepti, Suri, Amit, Rawat, Surjit, Singh
+5 more sources
Clinical Reviews in Allergy & Immunology, 2000
The identification of the gene responsible for XLA has made it possible to clarify the clinical and laboratory findings in this disorder. It has markedly improved our ability to provide informative genetic counseling for affected families and it has helped unmask disorders that are clinically similar to XLA but genotypically different.
M E, Conley, J, Rohrer, Y, Minegishi
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The identification of the gene responsible for XLA has made it possible to clarify the clinical and laboratory findings in this disorder. It has markedly improved our ability to provide informative genetic counseling for affected families and it has helped unmask disorders that are clinically similar to XLA but genotypically different.
M E, Conley, J, Rohrer, Y, Minegishi
openaire +2 more sources
Neutropenia in X-Linked Agammaglobulinemia
Clinical Immunology and Immunopathology, 1996X-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
J E, Farrar, J, Rohrer, M E, Conley
openaire +2 more sources
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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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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Giardiasis with Malabsorption in X-Linked Agammaglobulinemia
New England Journal of Medicine, 1972GASTROINTESTINAL 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.
H D, Ochs, M E, Ament, S D, Davis
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X-Linked agammaglobulinemia and gastric adenocarcinoma
Cancer, 1993The 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.
P, Lavilla +5 more
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Colocalization of X-Linked Agammaglobulinemia and X-Linked Immunodeficiency Genes
Science, 1993Mice 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 (
J D, Thomas +5 more
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[X-linked agammaglobulinemia: an update].
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego, 2004X-linked agammaglobulinemia (X-LA) was the first described and remains the most common inherited antibody deficiency. Although initially reported by Bruton in early fifties, full clinical picture and detailed pathogenesis were established recently. X-LA was the first immunodeficiency to be mapped to a specific locus in the human genome based on linkage
Rafał, Pawliczak, Marek L, Kowalski
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