Search Results - "primary immunodeficiency"

Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene by Pedro Simão Coelho, Catarina Gouveia, Catarina Gouveia, Marta Valente Pinto, Conceição Neves, Ana Isabel Cordeiro, João Farela Neves, João Farela Neves, João Farela Neves

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THE THYMUS GLAND (THYMUS) ASPECTS IN CHILDREN (PART VI). ASPECTS OF TREATMENT AND PREVENTION OF "THYMUS-MEDIATED" (to a certain extent) PATHOLOGICAL CONDITIONS by Юрий Иванович Ровда, Наталья Николаевна Миняйлова, Алена Владимировна Ведерникова, Иван Константинович Халивопуло, Андрей Владимирович Шабалдин, Анна Андреевна Лобыкина, Ольга Валерьевна Шмакова, Сергей Фадеевич Зинчук, Наталья Степановна Черных, Владислав Викторович Сохарев, Яна Вячеславовна Юнкина

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Clinical case: observation of a child with Chediak-Higashi syndrome by L. U. Ulukhanova, D. C. Amirkhanova, S. M. Attaeva, M. A. Ninalalov, N. C. Karnaeva

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A 23-Year-Old Man with Hyper-IgM Syndrome Presenting with Asymptomatic Violaceous Facial Plaques by Mirelys Barrios, Neera Nathan, Ryan Trowbridge, Molly Plovanich, Rosalynn M. Nazarian, Daniela Kroshinsky

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Establishing Newborn Screening for SCID in the USA: Experience in California by Jennifer M. Puck, Andrew R. Gennery

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Inborn errors of immunity in mainland China: the past, present and future by Huawei Mao, Mengyue Deng

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Hyper‐IgE syndrome in an 11 year old female presenting with acneiform rash by Berbie Byrne, Tom Hefferon, Rob Harrington, Marion Leahy, Annette Murphy

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Approach to the child with recurrent infections by Suzan A AlKhater

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Gastric adenocarcinoma in a patient with X-linked agammaglobulinemia and HIV: Case report and review of the literature by Joud Hajjar, Sana Hasan, Lisa Renee Forbes, Vagish Hemmige, Jordan Scott Orange

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Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic Anemia by Serena I. Tripodi, Paola Corti, Silvia Giliani, Arnalda Lanfranchi, Andrea Biondi, Raffaele Badolato

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Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report by Abdullah Alakeel, Khalid Nabil Nagshabandi, Abdulaziz Alsalhi

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Epidemiology Insights

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Do you know this syndrome? by Alexandre Moretti de Lima, Vitor Arantes Sperandio, Sheila Pereira da Rocha, Beatriz Medeiros de Ribeiro, Carmelia Matos Santiago Reis

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Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside by Ottavia Maria Delmonte, Riccardo Castagnoli, Riccardo Castagnoli, Enrica Calzoni, Enrica Calzoni, Luigi Daniele Notarangelo

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Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy by R Rajyalakshmi, R. N. B. Chakrapani

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Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma by Sarah E. Henrickson, Sarah E. Henrickson, Joseph G. Dolan, Lisa R. Forbes, Lisa R. Forbes, Alexander Vargas-Hernández, Alexander Vargas-Hernández, Shiho Nishimura, Satoshi Okada, Leslie S. Kersun, Garrett M. Brodeur, Jennifer R. Heimall

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A case of Wiskott - Aldrich syndrome in an infant by E. V. Churyukina, E. V. Koreeva, O. S. Selezneva

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Wiskott-Aldrich Syndrome (WAS) and Dedicator of Cytokinesis 8- (DOCK8) Deficiency by Michael H. Albert, Alexandra F. Freeman

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Disseminated BCGosis complicated by robust immune reconstitution in a child with severe combined immunodeficiency during transplant: A case report by N.S. Thillai Arunachalam, Dhaarani Jayaraman, Adarsh Kancharla, T.K. Shruthi, Swati Kumari, Rajeev Pulimi, Julius Xavier Scott

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Eosinophilic colitis in a boy with a novel XIAP mutation: a case report by Jiamei Tang, Xiaoying Zhou, Lan Wang, Guorui Hu, Bixia Zheng, Chunli Wang, Yan Lu, Yu Jin, Hongmei Guo, Zhifeng Liu

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