Cernunnos deficiency: Further delineation in 5 Egyptian patients

Authors: EL Hawary, Rabab, Meshaal, Safa, Lotfy, Sohilla, Abd Elaziz, Dalia, Alkady, Radwa, Eldash, Alia, Erfan, Aya, Chohayeb, Engy, Saad, Mai, Darwish, Rania, Boutros, Jeannette, Galal, Nermeen, Elmarsafy, Aisha

Source: In European Journal of Medical Genetics October 2023 66(10)

Fallbericht über resistente Psoriasis in Verbindung mit LRBA‐Defizienz

Authors: Amer, Marwa A., Galal, Nermeen, ElMarsafy, Aisha, Lotfy, Sohilla, Elguindy, Nancy, Meshaal, Safa, ElHawary, Rabab, EL‐Komy, Mohamed HM, El‐Kalioby, Mona

Source: Journal der Deutschen Dermatologischen Gesellschaft. 20(7):1016-1019

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100160322194.0x000001&indx=1&recIds=ETOCvdc_100160322194.0x000001

Resistant psoriasis associated with LRBA deficiency: A case report

Authors: Amer, Marwa A., Galal, Nermeen, ElMarsafy, Aisha, Lotfy, Sohilla, Elguindy, Nancy, Meshaal, Safa, ElHawary, Rabab, EL‐Komy, Mohamed HM, El‐Kalioby, Mona

Source: Journal der Deutschen Dermatologischen Gesellschaft. 20(7):1016-1019

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100160322168.0x000001&indx=1&recIds=ETOCvdc_100160322168.0x000001

Clinical and immunological features of four patients with activation‐induced cytidine deaminase deficiency: Renal amyloidosis and other presentations.

Authors: Meshaal, Safa S., El Hawary, Rabab E., Abd Elaziz, Dalia S., Eldash, Alia, Darwish, Rania, Erfan, Aya, Lotfy, Sohilla, Saad, Mai M., Chohayeb, Engy A., Nagy, Mohamed S., Alkady, Radwa, Boutros, Jeannette A., Galal, Nermeen M., Elmarsafy, Aisha M.

Source: Annals of Human Genetics; Jan2025, Vol. 89 Issue 1, p47-53, 7p

Subject Terms: IMMUNOGLOBULIN class switching, CYTIDINE deaminase, DELAYED diagnosis, GENETIC testing, FLOW cytometry, IMMUNOGLOBULIN M

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Authors: Boztug, Kaan, Brunner, Juergen, Demel, Ulrike F., Förster-Waldl, Elisabeth, Gasteiger, Lukas M., Göschl, Lisa, Kojić, Marina, Schroll, Andrea, Seidel, Markus G., Wintergerst, Uwe, Wisgrill, Lukas, Sharapova, Svetlana O., Goffard, Jean-Christophe, Kerre, Tessa, Meyts, Isabelle, Roosens, Fine, Smet, Julie, Haerynck, Filomeen, Eric, Zelimir Pavle, Milenova, Veneta, Gagro, Alenka, Richter, Darko, Chovancova, Zita, Hlavackova, Eva, Litzman, Jiri, Milota, Tomas, Sediva, Anna, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, El Sayed El Hawary, Rabab, Eldash, Alia S., Galal, Nermeen, Lotfy, Sohilla, Meshaal, Safa S., Reda, Shereen M., Sobh, Ali, Elmarsafy, Aisha, Seppänen, Mikko R.J., Brosselin, Pauline, Courteille, Virginie, De Vergnes, Nathalie, Kracker, Sven, Pergent, Martine, Randrianomenjanahary, Philippe, Ahrenstorf, Gerrit, Albert, Michael H., Ankermann, Tobias, Atschekzei, Faranaz, Baumann, Ulrich, Becker, Benjamin C., Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Binder, Nadine, Bode, Sebastian F.N., Boesecke, Christoph, Boetticher, Benedikt, Borte, Michael, Borte, Stephan, Classen, Carl Friedrich, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Ernst, Diana, Fasshauer, Maria, Fecker, Gisela, Felgentreff, Kerstin, Foell, Dirk, Ghosh, Sujal, Girschick, Hermann J., Goldacker, Sigune, Graf, Norbert, Graf, Dagmar, Greil, Johann, Hanitsch, Leif Gunnar, Hauck, Fabian, Heeg, Maximilian, Heine, Sabine I., Henes, Joerg C., Hoenig, Manfred, Holzer, Ursula, Holzinger, Dirk, Horneff, Gerd, Hundsdoerfer, Patrick, Jablonka, Alexandra, Jakoby, Donate, Joean, Oana, Kaiser-Labusch, Petra, Klemann, Christian, Kobbe, Robin, Körholz, Julia, Kramm, Christof M., Krüger, Renate, Landwehr-Kenzel, Sybille, Lehmberg, Kai, Liese, Johannes G., Lippert, Conrad Ferdinand, Maccari, Maria Elena, Masjosthusmann, Katja, Meinhardt, Andrea, Metzler, Markus, Morbach, Henner, Müller, Ingo, Naumann-Bartsch, Nora, Neubert, Jennifer, Niehues, Tim, Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Schauer, Uwe, Scheible, Raphael, Schmalzing, Marc, Schmidt, Reinhold Ernst, Schneider, Dominik T., Schreiber, Stefan, Schuetz, Catharina, Schulz, Ansgar, Schulze-Koops, Hendrik, Schulze-Sturm, Ulf, Schuster, Volker, Schwaneck, Eva C., Schwarz, Klaus, Schwarze-Zander, Carolynne, Sirin, Mehtap, Skapenko, Alla, Sogkas, Georgios, Sparber-Sauer, Monika, Speckmann, Carsten, Steinmann, Sandra, Stiehler, Sophie, Tenbrock, Klaus, von Bernuth, Horst, Warnatz, Klaus, Wasmuth, Jan-Christian, Weiss, Michael, Witte, Torsten, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Farmaki, Evangelia, Hatzistilianou, Maria N., Kakkas, Ioannis, Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Maggina, Paraskevi, Papadopoulou-Alataki, Efimia, Raptaki, Maria, Speletas, Matthaios, Tantou, Sofia, Goda, Vera, Kriván, Gergely, Marodi, Laszlo, Abolhassani, Hassan, Aghamohammadi, Asghar, Rezaei, Nima, Feighery, Conleth, Leahy, Timothy Ronan, Ryan, Paul, Batzir, Nurit Assia, Garty, Ben Zion, Tamary, Hannah, Aiuti, Alessandro, Amodio, Donato, Azzari, Chiara, Barzaghi, Federica, Baselli, Lucia A., Cancrini, Caterina, Carrabba, Maria, Cazzaniga, Marco, Cesaro, Simone, Chinello, Matteo, Danieli, Maria Giovanna, Dellepiane, Rosa Maria, Fabio, Giovanna, Gambineri, Eleonora, Lodi, Lorenzo, Lougaris, Vassilios, Marasco, Carolina, Martire, Baldassarre, Marzollo, Antonio, Milito, Cinzia, Moschese, Viviana, Pignata, Claudio, Plebani, Alessandro, Porta, Fulvio, Quinti, Isabella, Ricci, Silvia, Soresina, Annarosa, Tommasini, Alberto, Vacca, Angelo, Vanessa, Clementina, Blažienė, Audra, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Więsik-Szewczyk, Ewa, Wolska-Kuśnierz, Beata, Esteves, Isabel, Faria, Emilia, Marques, Laura Hora, Neves, João Farela, Silva, Susana L., Teixeira, Carla, Pereira da Silva, Sara, Capilna, Brindusa Ruxandra, Guseva, Marina N., Shcherbina, Anna, Bobcakova, Anna, Ciznar, Peter, Gabzdilova, Juliana, Jesenak, Milos, Kapustova, Lenka, Orosova, Jaroslava, Petrovicova, Otilia, Raffac, Stefan, Kopač, Peter, Allende, Luis M., Antolí, Arnau, Blanch, Gemma Rocamora, Carbone, Javier, Dieli-Crimi, Romina, Garcia-Prat, Marina, Gil-Herrera, Juana, Gonzalez-Granado, Luis Ignacio, Agulló, Pilar Llobet, Olbrich, Peter, Parra-Martínez, Alba, Paz-Artal, Estela, Pleguezuelo, Daniel E., Rodríguez, Nerea Salmón, Sánchez-Ramón, Silvia, Santos-Pérez, Juan Luis, Solanich, Xavier, Soler-Palacin, Pere, González-Amores, Miriam, Ekwall, Olov, Fasth, Anders, Bitzenhofer-Grüber, Michaela, Candotti, Fabio, Dimitriou, Florentia, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Kolios, Antonios G.A., Marschall, Karin, Schmid, Jana Pachlopnik, Posfay-Barbe, Klara M., Prader, Seraina, Reichenbach, Janine, Steiner, Urs C., Trück, Johannes, Bredius, Robbert G., de Kruijf- Bazen, Suzanne, de Vries, Esther, Henriet, Stefanie S.V., Kuijpers, Taco W., Potjewijd, Judith, Rutgers, Abraham, Stol, Kim, van Aerde, Koen J., Van den Berg, J. Merlijn, van de Ven, Annick A.J.M., Montfrans, Jorisvan, Aydemir, Sezin, Baris, Safa, Dogu, Figen, Ikinciogullari, Aydan, Karakoc-Aydiner, Elif, Kilic, Sara S., Kiykim, Ayca, Kökçü Karadağ, Şefika İlknur, Kutukculer, Necil, Ocak, Suheyla, UNAL, Ekrem, Boyarchuk, Oksana, Hilfanova, Anna, Kostyuchenko, Larysa V., Alachkar, Hana, Arkwright, Peter D., Baxendale, Helen E., Bernatoniene, Jolanta, Coulter, Tanya I., Garcez, Tomaz, Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Ibberson, Lisa, Nademi, Zoreh, Noorani, Sadia, Parvin, Shahnaz, Steele, Cathal Laurence, Thomas, Moira, Waruiru, Catherine, Yong, Patrick F.K., Bourne, Helen, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, Mahlaoui, Nizar, Ehl, Stephan

Source: In The Journal of Allergy and Clinical Immunology November 2021 148(5):1332-1341

A novel MALT1 variant in an Egyptian patient presenting with exfoliative dermatitis: a case-based review.

Authors: El Hawary, Rabab, Meshaal, Safa, Lotfy, Sohilla, Abd Elaziz, Dalia, Eldash, Alia S., Erfan, Aya, Alkady, Radwa, Darwish, Rania, Saad, Mai, Chohayeb, Engy, Galal, Nermeen, Elmarsafy, Aisha M.

Source: Immunologic Research; Oct2024, Vol. 72 Issue 5, p1147-1153, 7p

Fungal infections in primary immunodeficiency diseases

Authors: Abd Elaziz, Dalia, Abd El-Ghany, Mohamed, Meshaal, Safa, El Hawary, Rabab, Lotfy, Sohilla, Galal, Nermeen, Ouf, Salama A., Elmarsafy, Aisha

Source: In Clinical Immunology October 2020 219

Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients

Authors: Meshaal, Safa, El Hawary, Rabab, Adel, Rana, Abd Elaziz, Dalia, Erfan, Aya, Lotfy, Sohilla, Hafez, Mona, Hassan, Mona, Johnson, Matthew, Rojas-Restrepo, Jessica, Gamez-Diaz, Laura, Grimbacher, Bodo, Shoman, Walaa, Abdelmeguid, Yasmine, Boutros, Jeannette, Galal, Nermeen, El-Guindy, Nancy, Elmarsafy, Aisha

Source: Journal of clinical immunology. 40(6):820-832

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171468491.0x000001&indx=1&recIds=ETOCvdc_100171468491.0x000001

MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes

Authors: El Hawary, Rabab E., Mauracher, Andrea A., Meshaal, Safa S., Eldash, Alia, Abd Elaziz, Dalia S., Alkady, Radwa, Lotfy, Sohilla, Opitz, Lennart, Galal, Nermeen M., Boutros, Jeannette A., Pachlopnik Schmid, Jana, Elmarsafy, Aisha M.

Source: In The Journal of Allergy and Clinical Immunology: In Practice March 2019 7(3):856-863

Diagnosis of DOCK8 deficiency using Flow cytometry Biomarkers: an Egyptian Center experience

Authors: Meshaal, Safa S., El Hawary, Rabab E., Eldash, Alia, Grimbacher, Bodo, Camacho-Ordonez, Nadezhda, Abd Elaziz, Dalia S., Galal, Nermeen M., Boutros, Jeannette A., Shawky, Shereen M., Elmarsafy, Aisha M.

Source: In Clinical Immunology October 2018 195:36-44

Analysis of Clinical, Immunological and Molecular Features of Leukocyte Adhesion Deficiency Type I in Egyptian Children.

Authors: Saad, Mai Magdy, Alkady, Radwa, Eldash, Alia, El Hawary, Rabab E., Meshaal, Safa S., Galal, Nermeen M., Elmarsafy, Aisha M.

Source: Journal of Clinical Immunology; Apr2024, Vol. 44 Issue 4, p1-9, 9p

Subject Terms: PERIODONTITIS, EGYPTIANS, OTITIS media, HEMATOPOIETIC stem cell transplantation, SOFT tissue infections, LEUKOCYTES, CHILD patients

Poliovirus excretion following vaccination with live poliovirus vaccine in patients with primary immunodeficiency disorders: clinicians' perspectives in the endgame plan for polio eradication

Authors: Galal, Nermeen, Meshaal, Safaa, ElHawary, Rabab, Nasr, Eman, Bassiouni, Laila, Ashghar, Humayun, Farag, Noha, Mach, Ondrej, Burns, Cara, Iber, Jane, Chen, Qi, ElMarsafy, Aisha

Source: BMC research notes. 11(1):1-5

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184291481.0x000001&indx=1&recIds=ETOCvdc_100184291481.0x000001

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

Authors: Petersen, Britt-Sabina, August, Dietrich, Abt, Renate, Alddafari, Moudjahed, Atarod, Lida, Baris, Safa, Bhavsar, Hemant, Brinkert, Florian, Buchta, Mary, Bulashevska, Alla, Chee, Ronnie, Cordeiro, Ana I., Dara, Naghi, Dückers, Gregor, Elmarsafy, Aisha, Frede, Natalie, Galal, Nermeen, Gerner, Patrick, Glocker, Erik-Oliver, Goldacker, Sigune, Hammermann, Jutta, Hasselblatt, Peter, Havlicekova, Zuzana, Hübscher, Katrin, Jesenak, Milos, Karaca, Neslihan E., Karakoc-Aydiner, Elif, Kharaghani, Mahboubeh M., Kilic, Sara S., Kiykim, Ayca, Klein, Christoph, Klemann, Christian, Kobbe, Robin, Kotlarz, Daniel, Laass, Martin W., Leahy, T. Ronan, Mesdaghi, Mehrnaz, Mitton, Sally, Neves, João F., Öztürk, Birol, Pereira, Luis F., Rohr, Jan, Restrepo, Jessica L. R., Ruzaike, Gunda, Saleh, Nadia, Seneviratne, Suranjith, Senol, Ebru, Speckmann, Carsten, Tegtmeyer, Daniel, Thankam, Paul, van der Werff ten Bosch, Jutte, von Bernuth, Horst, Zeissig, Sebastian, Zeissig, Yvonne, Franke, Andre, Grimbacher, Bodo

Source: Inflammatory bowel diseases. 23(12):2109-2120

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100051351215.0x000001&indx=1&recIds=ETOCvdc_100051351215.0x000001

Chronic Granulomatous Disease: a Cohort of 173 Patients—10-Years Single Center Experience from Egypt.

Authors: Abd Elaziz, Dalia, EL Hawary, Rabab, Meshaal, Safa, Alkady, Radwa, Lotfy, Sohilla, Eldash, Alia, Erfan, Aya, Chohayeb, Engy, Saad, Mai, Boutros, Jeannette, Galal, Nermeen, Elmarsafy, Aisha

Source: Journal of Clinical Immunology; Nov2023, Vol. 43 Issue 8, p1799-1811, 13p

Subject Terms: CHRONIC granulomatous disease, PRIMARY immunodeficiency diseases, CHILDREN'S hospitals, BACTERIAL diseases, MYCOSES, BURULI ulcer

Geographic Terms: EGYPT

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

Authors: EL Hawary, Rabab E., Meshaal, Safa S., Abd Elaziz, Dalia S., Alkady, Radwa, Lotfy, Sohilla, Eldash, Alia, Erfan, Aya, Chohayeb, Engy A., Saad, Mai M., Darwish, Rania K., Boutros, Jeannette A., Galal, Nermeen M., Elmarsafy, Aisha M.

Source: Journal of Clinical Immunology; Jul2022, Vol. 42 Issue 5, p1051-1070, 20p

Subject Terms: GENETIC testing, MOLECULAR diagnosis, EGYPTIANS, STEM cell transplantation, CONSANGUINITY, GENETIC counseling

Geographic Terms: EGYPT

Flow cytometry optimizing the diagnostic approach in inborn errors of immunity: experience from Egypt.

Authors: Meshaal, Safa, EI Hawary, Rabab, Eldash, Alia, Erfan, Aya, Abd Elaziz, Dalia, Alkady, Radwa, Lotfy, Sohilla, Galal, Nermeen, Boutros, Jeannette, Elmarsafy, Aisha

Source: Allergy, Asthma & Clinical Immunology; 6/2/2022, Vol. 18 Issue 1, p1-12, 12p

Subject Terms: FLOW cytometry, PRIMARY immunodeficiency diseases, LYMPHADENITIS, SEVERE combined immunodeficiency, PROTEIN expression, CYSTIC fibrosis, MEDICAL screening

Geographic Terms: EGYPT

Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt

Authors: Meshaal, Safa, El Hawary, Rabab, Elsharkawy, Marwa, Mousa, Reem K., Farid, Reem J., Abd Elaziz, Dalia, Alkady, Radwa, Galal, Nermeen, Massaad, Michel J., Boutros, Jeannette, Elmarsafy, Aisha

Source: In Clinical Immunology June 2015 158(2):167-173

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