Results 81 to 90 of about 10,731 (180)

Agammaglobulinemiaの1例

A case of agammaglobulinemia, probably of the secondary type, is reported in adult female (45-year-old) with tumor of the mediastinum. The authors described the bibliographical consideration and arose the attention of agammaglobulinemia.
松本, 欣之, 涌谷, 卓伯
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[Agammaglobulinemia].

Revista chilena de pediatria, 2003
C A, JANEWAY, L, APT, D, GITLIN
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Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency

, 2021
Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated three novel patients, including the first known adult, from unrelated families with ...
Gaipa, G, Kroes, W, Piazza, R, Coban-Akdemir, Z, Baas, F, Poli, C, Bonanomi, S, Iascone, M, Rivers, E, Quadri, M, Daxinger, L, Biondi, A, Noguera, LP, Jarur-Chamy, V, Gasperini, S, Cazzaniga, G, Badolato, R, Orellana, JC, Shams, M, Saettini, F, Rodriguez, FH, Van der Maarel, S, Bugarin, C, Van Ostaijen-Ten Dam, MM, Lupski, JR, Booth, CA, Chinn, IK, Mauri, M, Fazio, G, Vukic, M, Vengoechea, J, Barroeta Seijas, AB, Yuan, B, Moratto, D   +33 more
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Gastrointestinal disorders next to respiratory infections as leading symptoms of X-linked agammaglobulinemia in children – 34-year experience of a single center

, 2016
Introduction: Respiratory tract infections constitute the most frequent manifestation of X-linked agammaglobulinemia (XLA). There are not many papers elucidating gastrointestinal (GI) disorders, including inflammatory bowel disease (IBD), in such ...
Malgorzata M. Pac, Józef P. Ryżko, Teresa Jackowska, Ewa A. Bernatowska, Jarosław Kierkuś, Joanna Cielecka-Kuszyk, Bożena Mikołuć   +6 more
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Agammaglobulinemia

Japanese Journal of Clinical Immunology, 2002
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An Atypical Case of X-Linked Agammaglobulinemia: A Male Child with a Pathogenic Variant in BTK with Preserved IgG and IgM Production and Responsiveness to Tetanus Vaccine

Journal of Human Immunity
BackgroundX-Linked agammaglobulinemia (XLA) is characterized by absent B cell development due to defects in the BTK gene. Patients with this condition have B cell aplasia as well as agammaglobulinemia and impaired vaccine responsiveness. Here, we present
Nicole Soucy, Christian Wysocki
doaj   +1 more source

Congenital Agammaglobulinemia in a Female Child

, 1995
We report a case of congenital agammaglobulinemia in a female child. This immunodeficiency usually affects males since it is a X-linked immunological disorder. Personal and family history of the little girl let us suspect that the genetic defect is not X-
Parolini, Ornella
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X-linked agammaglobulinemia: clinical and immunologic evaluation of six patients

, 1990
The clinical and immunologic features of six patients with X-linked agammaglobulinemia (XLA) are presented. The most common presenting manifestations were respiratory and gastrointestinal tract infections. On admittance to the hospital, one patient had a
A. İzzet Berkel, Özden Sanal, Fügen Ersoy, İlhan Tezcan   +3 more
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X-linked agammaglobulinemia - first case with bruton tyrosine kinase mutation from Pakistan [PDF]

, 2017
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections.
Zaidi, Samreen Kulsom, Qamar, Farah Naz, Qureshi, Sonia   +2 more
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Agammaglobulinemia

Annals of Surgery, 1955
R L, VARCO, L D, MACLEAN, J B, AUST, R A, GOOD   +3 more
openaire   +4 more sources