Results 51 to 60 of about 4,202 (211)

B-cell activity in children with malaria [PDF]

, 2012
Background Recent studies implicate deficiency of red blood cell (RBC) complement regulatory proteins (CR1 and CD55) in the pathogenesis of malarial anaemia.
Jackson C Korir, Japhet K Magambo, Joseph K Mwatha, John N Waitumbi   +3 more
core   +1 more source

Common variable immunodeficiency, impaired neurological development and reduced numbers of T regulatory cells in a 10-year-old boy with a STAT1 gain-of-function mutation [PDF]

, 2016
Recently, gain-of-function (GOF) mutations in the gene encoding signal transducer and activator of transcription 1 (STAT1) have been associated with chronic mucocutaneous candidiasis (CMC).
Fuchs, S, Grimbacher, B, Jenderny, J, Kobbe, R, Kochhan, L, Kolster, M, Meyer, T, Schulze-Sturm, U, Staab, J, Tolosa, E   +9 more
core   +1 more source

X-Linked Lymphoproliferative Disease in Latvia: A Report of Two Clinically Distinct Cases

Case Reports in Medicine, 2020
X-linked lymphoproliferative disease (XLP) is a rare primary immunodeficiency. Affected individuals usually present with the Epstein–Barr virus infection and have no apparent disease prior to presentation.
Ieva Nokalna, Madara Kreile, Dagnija Butane, Zhanna Kovalova, Zanda Daneberga, Edvins Miklasevics, Dace Gardovska, Linda Gailite   +7 more
doaj   +1 more source

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

A novel case of autosomal recessive CARD11 loss‐of‐function underlying impaired antiviral immunity and a review of literature

Clinical &Translational Immunology, Volume 15, Issue 5, 2026.
We report on a patient homozygous for a novel autosomal recessive loss‐of‐function CARD11 variant, with susceptibility to live attenuated virus (LAV) vaccines and impaired clearance of multiple naturally acquired respiratory viral infections. Inborn errors of immunity affecting the CARD11‐BCL10‐MALT1 (CBM) complex should be considered in individuals ...
Hamish Anderson, Cecilia Verryt, Paula Keating, Thomas Saunders, Samuel Dalton, Barry D Hock, Liping Goddard, Kylie Drake, Anja Werno, John O'Donnell, Jeffrey R Stinson, Andrew L Snow, Kuang‐Chih Hsiao   +12 more
wiley   +1 more source

Prolonged impairment of immunological memory after anti-CD20 treatment in pediatric idiopathic nephrotic syndrome: an extended follow-up

Frontiers in Immunology
IntroductionAnti-CD20 therapy is an effective steroid-sparing option for pediatric idiopathic nephrotic syndrome (INS), but long-term data on immune reconstitution are limited.MethodsThirteen pediatric INS patients (7 males) were longitudinally evaluated
Manuela Colucci, Martina Riganati, Federica Zotta, Antonio Gargiulo, Laura Massella, Barbara Ruggiero, Nicola Cotugno, Nicola Cotugno, Giulia Ricci, Paolo Palma, Paolo Palma, Francesco Emma, Francesco Emma, Marina Vivarelli, Marina Vivarelli   +14 more
doaj   +1 more source

Unbalanced Immune System: Immunodeficiencies and Autoimmunity [PDF]

, 2016
Increased risk of developing autoimmune manifestations has been identified in different primary immunodeficiencies (PIDs). In such conditions, autoimmunity and immune deficiency represent intertwined phenomena that reflect inadequate immune function ...
CAPALBO, DONATELLA, CIRILLO, EMILIA, D'ASSANTE, ROBERTA, De Cataldis, M, Di Giacomo, C, GALLO, VERA, Gaudino, G, GIARDINO, GIULIANA, Lorello, P, PALAMARO, LOREDANA, PIGNATA, CLAUDIO, PRENCIPE, MARIA ROSARIA, ROMANO, ROBERTA   +12 more
core   +2 more sources

Dasatinib induces fast and deep responses in newly diagnosed chronic myeloid leukaemia patients in chronic phase : clinical results from a randomised phase-2 study (NordCML006) [PDF]

, 2014
Peer ...
Dreimane, Arta, Ehrencrona, Hans,, Gedde-Dahl, Tobias, Gjertsen, Bjorn Tore, Hjorth-Hansen, Henrik, Hoglund, Martin, Koskenvesa, Perttu, Lotfi, Kourosh, Lund University., Lund University., Lund University., Majeed, Waleed, Markevarn, Berit, Mustjoki, Satu, Ohm, Lotta, Olsson-Stromberg, Ulla, Porkka, Kimmo, Remes, Kari, Richter, Johan,, Simonsson, Bengt, Soderlund, Stina, Stenke, Leif, Suominen, Merja   +22 more
core   +3 more sources

Expanding genetic landscape of inherited bone marrow failure syndromes: Insights from the Canadian Inherited Marrow Failure Registry (CIMFR) (2001–2023)

British Journal of Haematology, Volume 208, Issue 4, Page 1407-1418, April 2026.
Summary Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous with an expanding spectrum of causative genes. Recent molecular advances are thought to have contributed to genetic identification, yet the true gain in diagnostic yield remains unclear.
Ye Jee Shim, Jae Hee Lee, Talya Wittmann Dayagi, Robert J. Klaassen, Yves D. Pastore, Sharon Abish, MacGregor Steele, Catherine Corriveau‐Bourque, Vicky R. Breakey, Roona Sinha, Soumitra Tole, Lisa Goodyear, Josee Brossard, Stephanie Villeneuve, Bruce Crooks, Meera Rayar, Laura Wheaton, Sara Ogle, Michaela Cada, Hongbing Li, Rinu Mathew, Yigal Dror   +21 more
wiley   +1 more source

Gastric cancer is the leading cause of death in Italian adult patients with common variable immunodeficiency [PDF]

, 2018
An increased prevalence of malignant lymphoma and of gastric cancer has been observed in large cohorts of patients with common variable immunodeficiency (CVID), the most frequently symptomatic primary immunodeficiency. Surveillance strategies for cancers
Agostini, Carlo, Cinetto, Francesco, Crescenzi, Ludovica, Milito, Cinzia, Pecoraro, Antonio, Pulvirenti, Federica, Quinti, Isabella, Rizzo, Francesca, Santangeli, Enrico, Spadaro, Giuseppe, Tabolli, Stefano, Valente, Michele   +11 more
core   +3 more sources