Results 111 to 120 of about 45,012 (247)

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

Italian pediatric experts' consensus statement on diagnosis and management of primary atopic disorders

Pediatric Allergy and Immunology, Volume 36, Issue 11, November 2025.
Abstract Background Primary Atopic Disorders (PAD) represent a recently recognized subset of inborn errors of immunity (IEI), characterized by severe atopy driven by genetic mutations leading to dysregulated type 2 immune responses, excessive mast cell activation, and hyper production of IgE.
Fabio Cardinale, Ivan Taietti, Mayla Sgrulletti, Lucia Pacillo, Viviana Moschese, Caterina Cancrini, Raffaele Badolato, Michele Miraglia del Giudice, Gian Luigi Marseglia, Elena Chiappini, Riccardo Castagnoli, Primary Atopic Disorders Working Group, on behalf of the Italian Society of Pediatric Allergy and Immunology (SIAIP), Salvatore Barberi, Anna Belloni Fortina, Roberto Berni Canani, Paolo Bottau, Carlo Caffarelli, Mauro Calvani, Antonella Cianferoni, Francesco Cinetto, Bianca Laura Cinicola, Emilia Cirillo, Francesca Conti, Laura Dotta, Marzia Duse, Silvia Federici, Alessandro Fiocchi, Elena Galli, Silvia Giliani, Giuliana Giardino, Cristiana Indolfi, Lucia Leonardi, Amelia Licari, Vassilios Lougaris, Sara Manti, Alberto Martelli, Domenico Minasi, Elio Novembre, Riccardo Papa, Claudio Pignata, Federica Pulvirenti, Maria Sangerardi, Annarosa Soresina, Mariangela Tosca, Alberto Giovanni Ugazio, Anna Maria Zicari   +46 more
wiley   +1 more source

Data in support of the bone analysis of NOD–SCID mice treated with zoledronic acid and prednisolone

Data in Brief, 2016
This paper reports data on the bone, specifically the tibia and mandible, of nonobese diabetic mice with severe combined immunodeficiency disease (NOD–SCID mice) treated with zoledronic acid (ZA) and prednisolone (PSL).
Naoko Hori, Takahiro Abe, Tsuyoshi Sato, Shoichiro Kokabu, Yumiko Shimamura, Tomoya Sato, Tetsuya Yoda   +6 more
doaj   +1 more source

Human immunodeficiency virus infection of the human thymus and disruption of the thymic microenvironment in the SCID-hu mouse. [PDF]

, 1993
Infection with the human immunodeficiency virus (HIV) results in immunosuppression and depletion of circulating CD4+ T cells. Since the thymus is the primary organ in which T cells mature it is of interest to examine the effects of HIV infection in this ...
Adelsberger, J, Baseler, M, Bonyhadi, M, Boone, E, Justement, JS, Kaneshima, H, McCune, JM, Orenstein, J, Stanley, SK, Sullivan, M   +9 more
core  

Specificity in V(D)J recombination: new lessons from biochemistry and genetics [PDF]

, 1997
Recent in vitro work on V(D)J recombination has helped to clarify its mechanism. The first stage of the reaction, which can be reproduced with the purified RAG1 and RAG2 proteins, is a site-specific cleavage that generates the same ...
Gellert, M., Gent, D.C. (Dik) van, Ramsden, D.A.   +2 more
core   +3 more sources

A Review of Primary Immune Deficiency Disorders

European Medical Journal Allergy & Immunology, 2020
This scenario-based review of primary immunodeficiency diseases (PIDD) discusses the differential diagnosis, usual presentations, work-up, and treatment of children with the most commonly encountered immune disorders.
Talin Darian, Joudeh B. Freij, Divya Seth, Pavadee Poowuttikul, Elizabeth Secord   +4 more
doaj  

Effect of stem cell source on long-term chimerism and event-free survival in children with primary immunodeficiency disorders after fludarabine and melphalan conditioning regimen [PDF]

, 2016
BACKGROUND: Reduced-intensity conditioning (RIC) regimens are increasingly being used in the transplantation of patients with primary immunodeficiency disorders (PIDs), but there are no large studies looking at long-term lineage-specific chimerism ...
Adams, S, Allwood, Z, Amrolia, P, Chiesa, R, Lucchini, G, Qasim, W, Rao, K, Silva, J, Veys, P, Worth, A   +9 more
core  

Bacterial and Pneumocystis Infections in the Lungs of Gene-Knockout Rabbits with Severe Combined Immunodeficiency

Frontiers in Immunology, 2018
Using the CRISPR/Cas9 gene-editing technology, we recently produced a number of rabbits with mutations in immune function genes, including FOXN1, PRKDC, RAG1, RAG2, and IL2RG. Seven founder knockout rabbits (F0) and three male IL2RG null (−/y) F1 animals
Jun Song, Guoshun Wang, Mark J. Hoenerhoff, Jinxue Ruan, Dongshan Yang, Jifeng Zhang, Jibing Yang, Patrick A. Lester, Robert Sigler, Michael Bradley, Samantha Eckley, Kelsey Cornelius, Kong Chen, Jay K. Kolls, Li Peng, Liang Ma, Yuqing Eugene Chen, Fei Sun, Jie Xu   +18 more
doaj   +1 more source

Somatic Cell Therapy: A Genetic Rescue for a Tattered Immune System? [PDF]

, 2012
Étude de cas / Case studyLe cas de M. Andrew Gobea, le premier enfant à recevoir une thérapie génique expérimentale pour le déficience immunitaire combinée sévère (DICS), et une réflexion sur les implications éthiques associées à la recherche en thérapie
Williams-Jones, Bryn
core   +1 more source

Case Report: Whole exome sequencing identifies variation c.2308G>A p.E770K in RAG1 associated with B- T- NK+ severe combined immunodeficiency [version 2; referees: 2 approved, 1 not approved]

F1000Research, 2017
Severe combined immunodeficiency is a large clinically heterogeneous group of disorders caused by a defect in the development of humoral or cellular immune responses.
Geeta Madathil Govindaraj, Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Rowmika Ravi, Ankit Verma, Krishnan Chakkiyar, Machinari Puthenpurayil Jayakrishnan, Riyaz Arakkal, Revathi Raj, Rajeevan Kunnaruvath, Sridhar Sivasubbu, Vinod Scaria   +11 more
doaj   +1 more source