Results 101 to 110 of about 161,849 (206)

X-linked agammaglobulinemia: clinical and immunologic evaluation of six patients

The Turkish Journal of Pediatrics, 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.
F Ersoy, O Sanal, I Tezcan, A I Berkel
doaj  

Atypical Manifestation of X-linked Agammaglobulinemia – the Importance of Genetic Testing

Acta Medica
X-linked agammaglobulinemia (XLA) was one of the first inborn errors of immunity to be described. It is caused by pathogenic variants in the gene for Bruton tyrosine kinase (BTK), which has important functions in B cell development and maturation ...
Adam Markocsy, Daniela Kapustová, Andrej Čereš, Eva Froňková, Miloš Jeseňák   +4 more
doaj   +1 more source

X-linked Agammaglobulinemia - Is it Really Rare?

Clinical Pediatrics: Open Access, 2018
Background: X-Linked Agammaglobulinemia is a disease of the immune system in which there is defective development of the B lymphocytes due to which the production of gammaglobulins is markedly reduced; which results in immunodeficiency and high vulnerability to contract fatal infections.
Hui-Ma, Asfia Banu Pasha, Ya-Yuan Zhang, Guo-Ping Zhou, Xiao-Qing Chen, Hai – Guo Yu   +5 more
openaire   +2 more sources

Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. [PDF]

, 1994
Mauno Vihinen, David Vetrie, Hina S. Maniar, HD Ochs, Qili Zhu, Igor Vořechovský, A D Webster, L. D. Notarangelo, Lennart Nilsson, Janusz M. Sowadski   +9 more
openalex   +1 more source

Bone marrow cells in X-linked agammaglobulinemia express pre-B-specific genes (lambda-like and V pre-B) and present immunoglobulin V-D-J gene usage strongly biased to a fetal-like repertoire. [PDF]

, 1993
Michèle Milili, Françoise Le Deist, Geneviève de Saint Basile, Alain Fischer, M. Fougereau, Claudine Schiff   +5 more
openalex   +1 more source

Immunoglobulin variable heavy chain cDNA sequence from a patient with X-linked agammaglobulinemia [PDF]

, 1991
Frank Mortari, Hans D. Ochs, Ralph Wedgwood, Harry W. Schroeder   +3 more
openalex   +1 more source

Pseudomonas aeruginosa sepsis presenting as oral ecthyma gangrenosum in identical twins with Bruton tyrosine kinase gene mutation: Two case reports and review of the literature

Journal of Microbiology, Immunology and Infection, 2020
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease. We reported two 7-month-old identical male twins with Pseudomonas aeruginosa sepsis who initially manifested as oral ecthyma gangrenosum and were finally diagnosed to have XLA.
Sheng-Chieh Lin, Bor-Luen Chiang, Yuarn-Jang Lee, Ya-Ting Chang, Shiuh-Bin Fang   +4 more
doaj  

Characterization of a CD38-like 78-kilodalton soluble protein released from B cell lines derived from patients with X-linked agammaglobulinemia. [PDF]

, 1998
Roberto Mallone, S Ferrua, M. Morra, Elena Zocchi, Kapil Mehta, L. D. Notarangelo, Fabio Malavasi   +6 more
openalex   +1 more source

GRANULOPOIESIS IN X-LINKED AGAMMAGLOBULINEMIA PATIENTS: THE EFFECTS OF IN VITRO AND IN VIVO IMMUNOGLOBULINES 60 [PDF]

, 1997
Serge Gradstein, Talia Hahn, D Shtoger, Yoram Barak   +3 more
openalex   +1 more source

Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA) [PDF]

, 2000
Mauno Vihinen
openalex   +1 more source