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Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience
Shearer, William T., Dunn, Elizabeth, Notarangelo, Luigi D., Dvorak, Christopher C., Puck, Jennifer M., Logan, Brent R., Griffith, Linda M., Kohn, Donald B., O'Reilly, Richard J., Fleisher, Thomas A., Pai, Sung-Yun, Martinez, Caridad A., Buckley, Rebecca H., Cowan, Morton J.
Published in Journal of allergy and clinical immunology (01.04.2014)
Published in Journal of allergy and clinical immunology (01.04.2014)
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Journal Article
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases
Al-Mousa, Hamoud, Abouelhoda, Mohamed, Monies, Dorota M., Al-Tassan, Nada, Al-Ghonaium, Abdulaziz, Al-Saud, Bandar, Al-Dhekri, Hasan, Arnaout, Rand, Al-Muhsen, Saleh, Ades, Nazema, Elshorbagi, Sahar, Al Gazlan, Sulaiman, Sheikh, Farrukh, Dasouki, Majed, El-Baik, Lina, Elamin, Tanzeil, Jaber, Amal, Kheir, Omnia, El-Kalioby, Mohamed, Subhani, Shazia, Al Idrissi, Eman, Al-Zahrani, Mofareh, Alhelale, Maryam, Alnader, Noukha, Al-Otaibi, Afaf, Kattan, Rana, Al Abdelrahman, Khalid, Al Breacan, Muna M., Bin Humaid, Faisal S., Wakil, Salma Majid, Alzayer, Fadi, Al-Dusery, Haya, Faquih, Tariq, Al-Hissi, Safa, Meyer, Brian F., Hawwari, Abbas
Published in Journal of allergy and clinical immunology (01.06.2016)
Published in Journal of allergy and clinical immunology (01.06.2016)
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Journal Article
A Multi‑Center, Open‑Label, Single‑Arm Trial to Evaluate the Efficacy, Pharmacokinetics, and Safety and Tolerability of IGSC 20% in Subjects with Primary Immunodeficiency
Santamaria, Manuel, Neth, Olaf, Douglass, Jo A., Krivan, Gergely, Kobbe, Robin, Bernatowska, Ewa, Grigoriadou, Sofia, Bethune, Claire, Chandra, Anita, Horneff, Gerd, Borte, Michael, Sonnenschein, Anja, Kralickova, Pavlina, Ramón, Silvia Sánchez, Langguth, Daman, Gonzalez-Granado, Luis Ignacio, Alsina, Laia, Querolt, Montse, Griffin, Rhonda, Hames, Carrie, Mondou, Elsa, Price, Jeffrey, Sanz, Ana, Lin, Jiang
Published in Journal of clinical immunology (01.04.2022)
Published in Journal of clinical immunology (01.04.2022)
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Journal Article
Clinicopathological Manifestations and Immune Phenotypes in Adult-Onset Immunodeficiency with Anti-interferon-γ Autoantibodies
Chen, Yi-Chun, Weng, Shao-Wen, Ding, Jing-Ya, Lee, Chen-Hsiang, Ku, Cheng-Lung, Huang, Wen-Chi, You, Huey-Ling, Huang, Wan-Ting
Published in Journal of clinical immunology (01.04.2022)
Published in Journal of clinical immunology (01.04.2022)
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Journal Article
Primary Immune Deficiency Treatment Consortium (PIDTC) update
Griffith, Linda M., Cowan, Morton J., Notarangelo, Luigi D., Kohn, Donald B., Puck, Jennifer M., Shearer, William T., Burroughs, Lauri M., Torgerson, Troy R., Decaluwe, Hélène, Haddad, Elie
Published in Journal of allergy and clinical immunology (01.08.2016)
Published in Journal of allergy and clinical immunology (01.08.2016)
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Journal Article
Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear
Tajik, Shaghayegh, Fazlollahi, Mohammad Reza, Alizadeh, Zahra, Badalzadeh, Mohsen, Houshmand, Massoud, Razaghian, Anahita, Bahram, Seiamak, Molitor, Anne, Carapito, Raphael, Shariat, Mansoureh, Hamidieh, Amir Ali, Behniafard, Nasrin, Abdolkarimi, Babak, Rostami, Tahereh, Moin, Mostafa, Pourpak, Zahra
Published in Pediatric allergy and immunology (01.11.2024)
Published in Pediatric allergy and immunology (01.11.2024)
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Journal Article
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study
Karacan, İlker, Balamir, Ayşe, Uğurlu, Serdal, Aydın, Aslı Kireçtepe, Everest, Elif, Zor, Seyit, Önen, Merve Özkılınç, Daşdemir, Selçuk, Özkaya, Ozan, Sözeri, Betül, Tufan, Abdurrahman, Yıldırım, Deniz Gezgin, Yüksel, Selçuk, Ayaz, Nuray Aktay, Ömeroğlu, Rukiye Eker, Öztürk, Kübra, Çakan, Mustafa, Söylemezoğlu, Oğuz, Şahin, Sezgin, Barut, Kenan, Adroviç, Amra, Seyahi, Emire, Özdoğan, Huri, Kasapçopur, Özgür, Turanlı, Eda Tahir
Published in Rheumatology international (01.05.2019)
Published in Rheumatology international (01.05.2019)
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Journal Article
Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity
Gambineri, Eleonora, Perroni, Lucia, Passerini, Laura, Bianchi, Lucia, Doglioni, Claudio, Meschi, Franco, Bonfanti, Riccardo, Sznajer, Yves, Tommasini, Alberto, Lawitschka, Anita, Junker, Anne, Dunstheimer, Desiree, Heidemann, Peter H., Cazzola, Giantonio, Cipolli, Marco, Friedrich, Wilhelm, Janic, Dragana, Azzi, Nadira, Richmond, Erick, Vignola, Silvia, Barabino, Arrigo, Chiumello, Giuseppe, Azzari, Chiara, Roncarolo, Maria-Grazia, Bacchetta, Rosa
Published in Journal of allergy and clinical immunology (01.12.2008)
Published in Journal of allergy and clinical immunology (01.12.2008)
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Journal Article
An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency
Ziv, Alma, Werner, Lael, Konnikova, Liza, Awad, Aya, Jeske, Tim, Hastreiter, Maximilian, Mitsialis, Vanessa, Stauber, Tali, Wall, Sarah, Kotlarz, Daniel, Klein, Christoph, Snapper, Scott B, Tzfati, Yehuda, Weiss, Batia, Somech, Raz, Shouval, Dror S.
Published in Journal of clinical immunology (01.10.2020)
Published in Journal of clinical immunology (01.10.2020)
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Journal Article
Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia
Kostjukovits, Svetlana, Klemetti, Paula, Valta, Helena, Martelius, Timi, Notarangelo, Luigi D., Seppänen, Mikko, Taskinen, Mervi, Mäkitie, Outi
Published in Journal of allergy and clinical immunology (01.08.2017)
Published in Journal of allergy and clinical immunology (01.08.2017)
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Journal Article
Efficacy, Safety, and Pharmacokinetics of a New 10 % Liquid Intravenous Immunoglobulin Containing High Titer Neutralizing Antibody to RSV and Other Respiratory Viruses in Subjects with Primary Immunodeficiency Disease
Wasserman, Richard L., Lumry, William, Harris, James, Levy, Robyn, Stein, Mark, Forbes, Lisa, Cunningham-Rundles, Charlotte, Melamed, Isaac, Kobayashi, Ai Lan, Du, Wei, Kobayashi, Roger
Published in Journal of clinical immunology (01.08.2016)
Published in Journal of clinical immunology (01.08.2016)
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Journal Article
Evaluation of the Safety, Tolerability, and Pharmacokinetics of Gammaplex® 10% Versus Gammaplex® 5% in Subjects with Primary Immunodeficiency
Wasserman, Richard L., Melamed, Isaac R., Stein, Mark R., Jolles, Stephen, Norton, Miranda, Moy, James N.
Published in Journal of clinical immunology (01.04.2017)
Published in Journal of clinical immunology (01.04.2017)
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Journal Article
Clinical application of whole-genome sequencing in patients with primary immunodeficiency
Mousallem, Talal, Urban, Thomas J., McSweeney, K. Melodi, Kleinstein, Sarah E., Zhu, Mingfu, Adeli, Mehdi, Parrott, Roberta E., Roberts, Joseph L., Krueger, Brian, Buckley, Rebecca H., Goldstein, David B.
Published in Journal of allergy and clinical immunology (01.08.2015)
Published in Journal of allergy and clinical immunology (01.08.2015)
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Journal Article
Primary Immunodeficiency Disorders Among North Indian Children
Gupta, Devika, Thakral, Deepshi, Kumar, Prabin, Kabra, Sushil K., Lodha, Rakesh, Kumari, Rinkee, Mohanty, Supreet K., Chakraborty, Sushmita, Bagri, Narendra, Mitra, Dipendra K.
Published in Indian journal of pediatrics (01.10.2019)
Published in Indian journal of pediatrics (01.10.2019)
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Journal Article
Value of allohaemagglutinins in the diagnosis of a polysaccharide antibody deficiency
Schaballie, H., Vermeulen, F., Verbinnen, B., Frans, G., Vermeulen, E., Proesmans, M., De Vreese, K., Emonds, M.P., De Boeck, K., Moens, L., Picard, C., Bossuyt, X., Meyts, I.
Published in Clinical and experimental immunology (01.05.2015)
Published in Clinical and experimental immunology (01.05.2015)
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Journal Article
Flebogamma® 5 % DIF Intravenous Immunoglobulin for Replacement Therapy in Children with Primary Immunodeficiency Diseases
Ballow, Mark, Pinciaro, Paul J., Craig, Timothy, Kleiner, Gary, Moy, James, Ochs, Hans D., Sleasman, John, Smits, William
Published in Journal of clinical immunology (01.08.2016)
Published in Journal of clinical immunology (01.08.2016)
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Journal Article