Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia

Authors: Arsov, Todor, Kelecic, Jadranka, Frkovic, Sanda Huljev, Sestan, Mario, Kifer, Nastasia, Andrews, Dan, Adamski, Marcin, Jelusic, Marija, Cook, Matthew C.

Source: In European Journal of Medical Genetics December 2021 64(12)

Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study

Authors: Ferrua, Francesca, Galimberti, Stefania, Courteille, Virginie, Slatter, Mary Anne, Booth, Claire, Moshous, Despina, Neven, Benedicte, Blanche, Stephane, Cavazzana, Marina, Laberko, Alexandra, Shcherbina, Anna, Balashov, Dmitry, Soncini, Elena, Porta, Fulvio, Al-Mousa, Hamoud, Al-Saud, Bandar, Al-Dhekri, Hasan, Arnaout, Rand, Formankova, Renata, Bertrand, Yves, Lange, Andrzej, Smart, Joanne, Wolska-Kusnierz, Beata, Aquino, Victor M., Dvorak, Christopher C., Fasth, Anders, Fouyssac, Fanny, Heilmann, Carsten, Hoenig, Manfred, Schuetz, Catharina, Kelečić, Jadranka, Bredius, Robbert G.M., Lankester, Arjan C., Lindemans, Caroline A., Suarez, Felipe, Sullivan, Kathleen E., Albert, Michael H., Kałwak, Krzysztof, Barlogis, Vincent, Bhatia, Monica, Bordon, Victoria, Czogala, Wojciech, Alonso, Laura, Dogu, Figen, Gozdzik, Jolanta, Ikinciogullari, Aydan, Kriván, Gergely, Ljungman, Per, Meyts, Isabelle, Mustillo, Peter, Smith, Angela R., Speckmann, Carsten, Sundin, Mikael, Keogh, Steven John, Shaw, Peter John, Boelens, Jaap Jan, Schulz, Ansgar S., Sedlacek, Petr, Veys, Paul, Mahlaoui, Nizar, Janda, Ales, Davies, E. Graham, Fischer, Alain, Cowan, Morton J., Gennery, Andrew Richard

Source: In The Journal of Allergy and Clinical Immunology June 2019 143(6):2238-2253

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Authors: Bolze, Alexandre, Boisson, Bertrand, Bosch, Barbara, Antipenko, Alexander, Bouaziz, Matthieu, Sackstein, Paul, Chaker-Margot, Malik, Barlogis, Vincent, Briggs, Tracy, Colino, Elena, Elmore, Aurora C., Fischer, Alain, Genel, Ferah, Hewlett, Angela, Jedidi, Maher, Kelecic, Jadranka, Krüger, Renate, Ku, Cheng-Lung, Kumararatne, Dinakantha, Lefevre-Utile, Alain, Loughlin, Sam, Mahlaoui, Nizar, Markus, Susanne, Garcia, Juan-Miguel, Nizon, Mathilde, Oleastro, Matias, Pac, Malgorzata, Picard, Capucine, Pollard, Andrew J., Rodriguez-Gallego, Carlos, Thomas, Caroline, Von Bernuth, Horst, Worth, Austen, Meyts, Isabelle, Risolino, Maurizio, Selleri, Licia, Puel, Anne, Klinge, Sebastian, Abel, Laurent, Casanova, Jean-Laurent

Source: Proceedings of the National Academy of Sciences of the United States of America, 2018 Aug . 115(34), E8007-E8016.

Access URL: https://www.jstor.org/stable/26530204

A Rose Amongst the Thorns: the Mission of the J Project in a Conflictual World.

Authors: Maródi, László, and The J Project Study Group, Abolhassani, Hassan, Avcin, Tadej, Bahceciler, Nerin, Bataneant, Mihaela, Belevtsev, Mikhail, Bernatowska, Ewa, Bolkov, Mikhail, Bondarenko, Anastasia, Boyarchuk, Oksana, Erdős, Melinda, Galal, Nermeen, Iritsyan, Sevan, Ismaili-Jaha, Vlora, Kelecic, Jadranka, Keles, Sevgi, Kostyuchenko, Larysa, Kovzel, Elena, Kuli-Lito, Georgina

Source: Journal of Clinical Immunology; Aug2022, Vol. 42 Issue 6, p1151-1155, 5p

Subject Terms: SARS-CoV-2

A child with haemophilia A and Shwachman‐Diamond syndrome with literature review of combined haematologic diseases in children

Authors: Turudic, Daniel, Kelecic, Jadranka, Omerza, Lana, Vukovic, Jurica, Bilic, Marko, Bilic, Ernest

Source: Haemophilia. 25(6):e368-e369

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134557891.0x000001&indx=1&recIds=ETOCvdc_100134557891.0x000001

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Expression of chemokine receptor CX3CR1 in infants with respiratory syncytial virus bronchiolitis.

Authors: Cepika, Alma-Martina, Gagro, Alenka, Bace, Ana, Tjesic-Drinkovic, Dorian, Kelecic, Jadranka, Baricic-Voskresensky, Tamara, Matic, Mladen, Drazenovic, Vladimir, Marinic, Igor, Mlinaric-Galinovic, Gordana, Tjesic-Drinkovic, Duska, Vrtar, Zvonimir, Rabatic, Sabina

Source: Pediatric Allergy & Immunology; Mar2008, Vol. 19 Issue 2, p148-156, 9p, 1 Chart, 5 Graphs

Subject Terms: RESPIRATORY syncytial virus, BRONCHIOLE diseases, CHEMOKINES, GLYCOPROTEINS, INFANT diseases

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