Search Results - "primary immunodeficiency"

Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency by Mayra B. Dorna, Pamela F. A. Barbosa, Andréia Rangel-Santos, Krisztian Csomos, Boglarka Ujhazi, Joseph F. Dasso, Joseph F. Dasso, Daniel Thwaites, Joan Boyes, Sinisa Savic, Jolan E. Walter, Jolan E. Walter, Jolan E. Walter

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Inborn Errors of Immunity: how to diagnose them? by Anete Sevciovic Grumach, Ekaterini Simões Goudouris

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A functional <it>PTPN22 </it>polymorphism associated with several autoimmune diseases is not associated with IgA deficiency in the Spanish population by Fernández-Arquero Miguel, García-Rodríguez M Cruz, Martínez Alfonso, López-Mejías Raquel, Núñez Concepción, de la Concha Emilio G, Urcelay Elena

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Hyper-IgM Immunodeficiency with Enamel Defects: a Case Report by N Rahmani, K Salem, F Moazemi

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Cryptogenic hepatic abscess in an infant and management challenges in a resource limited setting: a case report by Oluwafunmilayo Funke Adeniyi, Nelson Daniel, Olivia Ashefor, Patricia Akintan

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Arthritis in Two Patients With Partial Recombination Activating Gene Deficiency by Kevin Y. Wu, Pooja Purswani, Boglarka Ujhazi, Krisztian Csomos, Mihailova Snezhina, Naumova Elissaveta, Stefan Stefanov, Svetlana Sharapova, Maryssa Ellison, Diana Milojevic, Sinisa Savic, Ravishankar Sargur, Ravishankar Sargur, Jolan E. Walter, Jolan E. Walter

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Hematopoietic Stem Cell Transplantation and Vasculopathy Associated With STAT3-Dominant-Negative Hyper-IgE Syndrome by Mark J. Ponsford, Mark J. Ponsford, James Clark, Joel Mock, Mario Abinun, Emily Carne, Tariq El-Shanawany, Paul E. Williams, Anirban Choudhury, Alexandra F. Freeman, Andrew R. Gennery, Stephen Jolles

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Case Report: Paradoxical Inflammatory Response Syndrome in a Previously Healthy, HIV-Negative, Pediatric Patient With Cryptococcus gatii Meningitis by Jessica H. Cheng, Ritu Cheema, Peter R. Williamson, Victoria R. Dimitriades

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Relapsing Campylobacter jejuni Systemic Infections in a Child with X-Linked Agammaglobulinemia by Paola Ariganello, Giulia Angelino, Alessia Scarselli, Irene Salfa, Martina Della Corte, Arianna De Matteis, Patrizia D'Argenio, Susanna Livadiotti, Emma C. Manno, Cristina Russo, Andrea Finocchi, Caterina Cancrini

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Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens by Maria Fasshauer, Sarah Dinges, Olga Staudacher, Mirjam Völler, Anna Stittrich, Horst von Bernuth, Horst von Bernuth, Horst von Bernuth, Horst von Bernuth, Volker Wahn, Renate Krüger

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Immunological deficiencies: more frequent than they seem to be by Irma Cecília Douglas Paes Barreto, Bruno Acatauassú Paes Barreto, Erica Gomes do Nascimento Cavalcante, Antonio Condino Neto

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How I Treat Primary Immune Deficiencies with Hematopoietic Stem Cell Transplantation by Hoon Kook, Boram Kim, Hee Jo Baek

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Evaluation of Clinical and Immunological Characteristics of Children with Common Variable Immunodeficiency by Gülsüm Alkan, Sevgi Keles, İsmail Reisli

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Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the CIITA gene by Mohammed F. Alosaimi, Mohammed F. Alosaimi, Muddathir H. Hamad, Muneera J. AlShammari, Dima Z. Jamjoom, Najd S. Musibeeh

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Combined immunodeficiencies by Carolina Sanchez Aranda, Rafaela Rola Guimarães, Mariana de Gouveia-Pereira Pimentel

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A TYK2 Gene Mutation c.2395G>A Leads to TYK2 Deficiency: A Case Report and Literature Review by Peilin Wu, Suqing Chen, Bin Wu, Junhong Chen, Ge Lv

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Hyper-immunoglobulin E syndrome: Case series of 6 children from India by Rohit Kothari, Muneer Mohamed, K Vivekanandh, Sunmeet Sandhu, Preema Sinha, Anuj Bhatnagar

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A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report by Panicos Shangaris, Alison Ho, Andreas Marnerides, Simi George, Mudher AlAdnani, Shu Yau, Mattias Jansson, Jacqueline Hoyle, Joo Wook Ahn, Sian Ellard, Melita Irving, Diana Wellesley, Dharmintra Pasupathy, Muriel Holder-Espinasse

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Gaps in knowledge about the vaccine coverage of immunocompromised children: a scoping review by Shannon E. MacDonald, Airlie Palichuk, Linda Slater, Hailey Tripp, Laura Reifferscheid, Catherine Burton

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An uncommon inborn error of immunity in an adolescent with Hodgkin lymphoma and bronchiectasis by Sangeetha Ramdas, Sidharth Totadri, Priyanka Medhi, Elanthenral Sigamani, Arun Kumar Arunachalam, Leni Grace Mathew

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