Results 11 to 20 of about 11,926 (252)

Immune Thrombocytopenia in an Adult With X-linked Agammaglobulinemia: A Case Report. [PDF]

EJHaem
Abstract In patients with X‐linked agammaglobulinemia (XLA), serum immunoglobulins are almost completely lacking. The prevalence of autoimmune diseases is low in XLA compared with other primary immunodeficiency diseases because antibodies are absent in XLA.
Matsunaga T, Naganuma K, Tanabe N, Mori Y, Nagata M, Momose S, Kubota Y.   +6 more
europepmc   +2 more sources

A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years

Case Reports in Immunology, 2022
Agammaglobulinemia is a rare inherited immunodeficiency disorder. Mutations in the BLNK gene cause low levels of mature B lymphocytes in the peripheral blood leading to recurrent infections.
Ezgi Topyildiz, Neslihan Edeer Karaca, Ayse Aygun, Ayca Aykut, Asude Durmaz, Guzide Aksu, Necil Kutukculer   +6 more
doaj   +1 more source

Clinical Case of Agammaglobulinemia Late Diagnosis in Preschool Child

Педиатрическая фармакология, 2022
Background. Agammaglobulinemia is a disease from the group of primary immune deficiencies with impaired antibodies production characterized by significant decrease or complete absence of B-cells.
Elena S. Kolevatova, Alla Yu. Shutkova, Elena V. Tush, Olga V. Khaletskaya   +3 more
doaj   +1 more source

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

Minor Clinical Impact of COVID-19 Pandemic on Patients With Primary Immunodeficiency in Israel

Frontiers in Immunology, 2021
In the last few months the world has witnessed a global pandemic due to severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection causing coronavirus disease 2019 (COVID-19).
Nufar Marcus, Nufar Marcus, Nufar Marcus, Shirly Frizinsky, Shirly Frizinsky, Shirly Frizinsky, Shirly Frizinsky, Shirly Frizinsky, David Hagin, David Hagin, David Hagin, Adi Ovadia, Adi Ovadia, Adi Ovadia, Suhair Hanna, Suhair Hanna, Michael Farkash, Michael Farkash, Michael Farkash, Ramit Maoz-Segal, Ramit Maoz-Segal, Ramit Maoz-Segal, Nancy Agmon-Levin, Nancy Agmon-Levin, Nancy Agmon-Levin, Arnon Broides, Arnon Broides, Amit Nahum, Amit Nahum, Elli Rosenberg, Elli Rosenberg, Amir Asher Kuperman, Amir Asher Kuperman, Yael Dinur-Schejter, Yael Dinur-Schejter, Yackov Berkun, Yackov Berkun, Ori Toker, Ori Toker, Ori Toker, Shmuel Goldberg, Shmuel Goldberg, Ronit Confino-Cohen, Ronit Confino-Cohen, Oded Scheuerman, Basel Badarneh, Basel Badarneh, Na‘ama Epstein-Rigbi, Amos Etzioni, Amos Etzioni, Ilan Dalal, Ilan Dalal, Ilan Dalal, Ilan Dalal, Raz Somech, Raz Somech   +55 more
doaj   +1 more source

Helicobacter trogontum Bacteremia and Lower Limb Skin Lesion in a Patient with X-Linked Agammaglobulinemia—A Case Report and Review of the Literature

Pathogens, 2022
We describe the first case of infection with Helicobacter trogontum in a patient with X-linked agammaglobulinemia. A 22-year-old male with X-linked agammaglobulinemia presented with fever, malaise and a painful skin lesion on the lower left extremity ...
Lasse Fjordside, Caroline Herløv, Camilla Heldbjerg Drabe, Leif Percival Andersen, Terese L. Katzenstein   +4 more
doaj   +1 more source

Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers

Revista Peruana de Medicina Experimental y Salud Pública, 2019
Primary agammaglobulinemia result from specific alterations in B cells, which lead to low antibody production. Diagnostic suspicion is established with a history of repeated infections, low immunoglobulins, and absence of CD19+ B lymphocytes.
Edgar Matos-Benavides, David Garcia-Gomero, Rosario Inocente-Malpartida, Wilmer Córdova-Calderón, Juan Aldave-Becerra   +4 more
doaj   +1 more source

Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA). [PDF]

, 1994
The gene responsible for X-linked agammaglobulinemia (XLA) has been recently identified to code for a cytoplasmic tyrosine kinase (Bruton's agammaglobulinemia tyrosine kinase, BTK), required for normal B cell development. BTK, like many other cytoplasmic
Chen, SH, Hagemann, T, Kwan, SP, Nilsson, L, Ochs, HD, Rawlings, DJ, Saffran, DC, Smith, CI, Vihinen, M, Witte, ON, Zhang, M, Zhu, Q   +11 more
core   +1 more source

Targeting Brutons Tyrosine Kinase in Chronic Lymphocytic Leukemia at the Crossroad between Intrinsic and Extrinsic Pro-survival Signals [PDF]

, 2016
Chemo immunotherapies for chronic lymphocytic leukemia (CLL) showed a positive impact on clinical outcome, but many patients relapsed or become refractory to the available treatments.
Facco, Monica, Frezzato, Federica, Martini, Veronica, Semenzato, Gianpietro, Severin, Filippo, Trentin, Livio, Trimarco, Valentina, Visentin, Andrea   +7 more
core   +1 more source

Presentation of a case of Bruton type primary agammaglobulinemia in Guinea

The Pan African Medical Journal, 2020
X-linked agammaglobulinemia (XLA) is a rare genetic disease caused by a mutation in the Bruton tyrosine kinase (BTK) gene. It is characterized by a profound deficiency of B cells and a decrease in all classes of immunoglobulins (Ig).
Kaba Condé, Hugues Ghislain Atakla, Mamadou Ciré Barry, Mohamed Lamine Condé, Malé Doré   +4 more
doaj   +1 more source