Results 91 to 100 of about 8,230 (206)

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

Gastric adenocarcinoma in a patient with X-linked agammaglobulinemia and HIV: Case report and review of the literature

Frontiers in Pediatrics, 2016
X-linked agammaglobulinemia (XLA) is an X-linked inherited disease usually caused by a germline mutation in the BTK gene leading to Bruton’s tyrosine kinase deficiency, which results in the impaired development of B-lymphocytes and a subsequent lack of ...
Joud Hajjar, Sana Hasan, Lisa Renee Forbes, Vagish Hemmige, Jordan Scott Orange   +4 more
doaj   +1 more source

A distinct role for B1b lymphocytes in T cell-independent immunity [PDF]

, 2008
Pathogenesis of infectious disease is not only determined by the virulence of the microbe but also by the immune status of the host. Vaccination is the most effective means to control infectious diseases.
A Faili, A Scorpio, A Vink, A Zandvoort, A Zandvoort, AA Belperron, AB Kantor, AB Kantor, AB Satterthwaite, AF Ochsenbein, AG Barbour, AG Barbour, AM Stall, C Janeway, CA Jefferies, CA Jefferies, CD Landers, CG Vinuesa, CG Vinuesa de, CM Snapper, D Cadavid, D Tarlinton, DD Pinschewer, DE Briles, DE Mosier, DE Mosier, DF Amsbaugh, DF Kelly, DF Kelly, E Fikrig, E Montecino-Rodriguez, E Montecino-Rodriguez, E Szomolanyi-Tsuda, E Szomolanyi-Tsuda, E Szomolanyi-Tsuda, EA Kurt-Jones, EA Leadbetter, ES Shang, F Martin, F Martin, F Martin, G Muller, GB Lesinski, H Toyama, HC Selinka, I Scher, IC MacLennan, J Andersson, J Chinen, J Couderc, JA Gebbia, JC Garcia-Monco, JD Thomas, JR Hiernaux, JW Tung, K Takeda, KM Ansel, KM Haas, KM Toellner, KR Alugupalli, KR Alugupalli, KR Alugupalli, KR Alugupalli, KR Alugupalli, KR Alugupalli, L Knoops, LJ McHeyzer-Williams, M Balasz, M Boes, M Muramatsu, M Schnare, M Yokota, MA Breukels, MC Hsu, MG McHeyzer-Williams, MS Cabatingan, N Maizels, N Maizels, N Watanabe, NL Bernasconi, NW Schroder, P Dullforce, PM Southern Jr, PW Yu, Q Vos, R Berland, R Guinamard, R Malley, RB Corley, RH Carter, RH Carter, RL Chelvarajan, RL Chelvarajan, RL Chelvarajan, RL Chelvarajan, RL Chelvarajan, RM Zinkernagel, RT Woodland, RT Woodland, S Bondada, S Fagarasan, S Kruetzmann, S Weller, SA Ha, SE Connolly, SE Connolly, SH Feng, SR Yan, SR Yan, T Fehr, T Kawai, T Mizuno, T Mizuno, TL Carvalho, TT Wang, TV Obukhanych, UC Tornberg, UE Hopken, W Ellmeier, WN Khan, WN Khan, Y Arimitsu, Y Chong, Y Nagai   +123 more
core   +2 more sources

Arthritis and X-linked agammaglobulinemia.

Acta reumatologica portuguesa, 2008
Primary immunodeficiencies are defined as genetically determined functional and/or quantitative abnormalities in one or more of the components of the immune system. Immunodeficiency and arthritis can be related, although the mechanisms are not always clear.
Machado, P, Santos, A, Faria, E, Silva, J, Malcata, A B, Chieira, C   +5 more
openaire   +2 more sources

Revisiting X-linked agammaglobulinemia

Journal of Human Immunity
Discovered >70 years ago by Ogden Bruton, X-linked agammaglobulinemia (XLA), characterized by recurrent bacterial infections, hypo/agammaglobulinemia, and peripheral blood B-cell deficiency, is among the best-established inborn errors of immunity (IEIs) and one of the most well-documented single types of IEIs, the incidence of which is estimated
Hirokazu Kanegane, Kay Tanita, Madoka Nishimura, Dan Tomomasa, Kento Inoue, Toru Kanamori, Akira Nishimura, Hans D. Ochs   +7 more
openaire   +1 more source

PROTECTIVE LEVELS OF VARICELLA-ZOSTER ANTIBODY DID NOT EFFECTIVELY PREVENT CHICKENPOX IN AN X-LINKED AGAMMAGLOBULINEMIA PATIENT

Revista do Instituto de Medicina Tropical de São Paulo, 2015
SUMMARY We describe the case of an eight-year-old boy with X-linked agammaglobulinemia who developed mild varicella despite regular intravenous immunoglobulin (IVIG) therapy.
Fernanda Aimée NOBRE, Isabela Garrido da Silva GONZALEZ, Maria Isabel de MORAES-PINTO, Beatriz Tavares COSTA-CARVALHO   +3 more
doaj   +1 more source

Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies [PDF]

, 2011
The field of primary immunodeficiencies (PIDs) is one of several in the area of clinical immunology that has not been static, but rather has shown exponential growth due to enhanced physician, scientist and patient education and awareness, leading to ...
Roshini S Abraham
core   +1 more source

X-Linked Agammaglobulinemia with Kawasaki Disease [PDF]

Indian Journal of Pediatrics, 2022
Sakshi Shakya, Anu Maheshwari, Kakarla Divya, Bharat Ravi Katti, Ackshaya R, Deonath Mahto   +5 more
openaire   +2 more sources

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

Vecchie e nuove Immunodeficienze Primitive: strategie per il sospetto e la diagnosi. [PDF]

, 2011
Viene analizzata l'epidemiologia delle immunodeficienze in Slovenia e Friuli venezia Giulia. Vengono valutati i sintomi di presentazione di immunodeficienza in base all'età di esordio e di diagnosi e gli esami di laboratorio più utili nell'iter ...
Tommasini, Alberto
core   +1 more source