Results 71 to 80 of about 5,132 (186)

The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008 [PDF]

, 2009
Primary immunodeficiencies (PID) are rare diseases; therefore transnational studies are essential to maximize the scientific outcome and to improve diagnosis and therapy.
Abuzakouk M., Bangs C., Baumann U., Beauté J., Beauté J., Benslama L., Brodszki N., Caragol I., Ciznar P., Core C., Cucuruz M., Dempster J., Dudoit Y., Dudoit Y., Duobiene R., Exley A., Farber C.M., Fasshauer M., Feighery C., Fischer A., Gathmann B., Goldacker S., Grimbacher B., Hatzistilianou M., Hörnes M., Kanariou M., Kilic S., Kindle G., Knerr V., Knerr V., Kondratenko I., Koren A., Kumararatne D., Kütükcüler N., Litzman J., Llobet P., Lucas M., Mahlaoui N., Marodi L., Marques L., Meyts I., Micol R., Niehues T., Notarangelo L., Papadopoulou Alataki E., Paschenko O., Pasic S., PIGNATA, CLAUDIO, Plebani A., Reda S., Reisli I., Richter D., Ritterbusch H., Sanal O., Savchak I., Shchebet S., Shcherbina A., Soler P., Sollinger F., Stimm H., Szaflarska A., Thon V., Tierney P., Touitou I., Trachana M., Velbri S., Viemann D., Witte T., Wittkowski H., Wolska B., Yegin O.   +70 more
core   +1 more source

PFAPA - A Case Report [PDF]

, 2003
O síndrome PFAPA ( Periodic Fever, Aphtous stomatitis,Pharingitis and Adenitis) foi descrito pela primeira vez em 1987. A etiologia é desconhecida. Clinicamente caracteriza-se por febre alta, recorrente, com intervalos de quatro a seis semanas.
Cabrita, S, Figueiredo, A, Leça, A, Pereira, S   +3 more
core  

Chronic lymphocytic leukaemia: Up-dated recommendations on diagnosis and treatment [PDF]

, 2004
Diagnosis and treatment of chronic lymphatic leukaemia (CLL) are currently undergoing great change. New knowledge of prognosis factors and the numerous new therapeutic procedures now available, such as purine analogues, high-dose treatment and monoclonal
Bergmann, M., Emmerich, B., Hallek, M.
core   +1 more source

Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature

The Turkish Journal of Pediatrics, 2012
The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme.
Pınar Gençpınar, Balahan B Makay, Marco Gattorno, Francesco Caroli, Erbil Ünsal   +4 more
doaj  

Future perspective for diagnosis in autoimmune diseases [PDF]

, 2009
Human beings have taken successive approaches for the understanding and management of diseases. Initially brewed in supernatural concepts and mystical procedures, a vigorous scientific approach has emerged on the grounds of fundamental disciplines such ...
Andrade, Luiz Eduardo Coelho
core   +3 more sources

Regulation of dolichol-linked glycosylation [PDF]

, 2018
In the majority of congenital disorders of glycosylation, the assembly of the glycan precursor GlcNAc2Man9Glc3 on the polyprenol carrier dolichyl-pyrophosphate is compromised.
Welti, Michael
core  

Genetics of longevity. Data from the studies on Sicilian centenarians [PDF]

, 2012
The demographic and social changes of the past decades have determined improvements in public health and longevity. So, the number of centenarians is increasing as a worldwide phenomenon.
ACCARDI, Giulia, BALISTRERI, Carmela Rita, BOVA, Valentina, BUFFA, Silvio, BULATI, Matteo, CANDORE, Giuseppina, COLONNA ROMANO, Giuseppina, FORTE, Giusi Irma, LIO, Domenico, LISTI', Florinda, MARTORANA, Adriana, PALMERI, Marisa, PELLICANO', Mariavaleria, SCOLA, Letizia, VACCARINO, Loredana   +14 more
core   +2 more sources

Loss of function NFKB1 variants are the most common monogenic cause of CVID in Europeans [PDF]

, 2018
BACKGROUND: The genetic etiology of primary immunodeficiency disease (PID) carries prognostic information. OBJECTIVE: We conducted a whole-genome sequencing study assessing a large proportion of the NIHR-BioResource - Rare Disease cohort. METHODS: In the
Baxendale, H, Biasci, D, Brown, M, Burns, SO, Carss, KJ, Chandra, A, de Bree, GJ, Ebberink, EHTM, Greene, D, Jansen, MH, Kiani-Alikhan, S, Kuijpers, TW, Lango Allen, H, Longhurst, HJ, Meijer, AB, NIHR-BioResource – Rare Diseases Consortium, ., Oksenhendler, E, Seneviratne, SL, Simeoni, I, Smith, KGC, Staples, E, Stephens, J, Thaventhiran, JE, Thomas, M, Thrasher, AJ, Tool, ATJ, Tuijnenburg, P, Tuna, S, Turro, E, van Leeuwen, EMM, Whitehorn, D   +30 more
core  

Zebrafish immunoglobulin IgD: Unusual exon usage and quantitative expression profiles with IgM and IgZ/T heavy chain isotypes [PDF]

, 2011
The zebrafish is an emerging model for comparative immunology and biomedical research. In contrast to the five heavy chain isotype system of mice and human (IgD, IgM, IgA, IgG, IgE), zebrafish harbor gene segments for IgD, IgM, and novel heavy chain ...
Moustafa, Farah M., Romanowski, Kryzstof E., Steiner, Lisa A., Zimmerman, Anastasia M.   +3 more
core   +1 more source

Use of dupilumab for atopic dermatitis in pediatric and young adult patients with inborn errors of immunity

Pediatric Allergy and Immunology, Volume 35, Issue 8, August 2024.
Paola Zangari, Carmela Giancotta, Lucia Pacillo, Nicole Colantoni, Fabrizio Leone, Donato Amodio, Veronica Santilli, Emma Concetta Manno, Nicola Cotugno, Beatrice Rivalta, Gioacchino Andrea Rotulo, Silvia Di Cesare, Andrea Diociaiuti, May El Hachem, Caterina Cancrini, Andrea Finocchi, Paolo Palma   +16 more
wiley   +1 more source