Results 101 to 110 of about 15,127 (297)

Community-acquired Acinetobacter calcoaceticus pneumonia in a patient with agammaglobulinaemia

New Microbes and New Infections, 2021
We herein describe the case of a 38-year-old patient with congenital agammaglobulinemia who presented with community-acquired pneumonia; acute respiratory failure with sepsis ensued requiring ICU admission, mechanical ventilation and vasopressors ...
K. El Gharib, K. Masri, Z. Daoud, T. Sfeir   +3 more
doaj  

Primary vs. Secondary Antibody Deficiency: Clinical Features and Infection Outcomes of Immunoglobulin Replacement [PDF]

, 2014
Secondary antibody deficiency can occur as a result of haematological malignancies or certain medications, but not much is known about the clinical and immunological features of this group of patients as a whole. Here we describe a cohort of 167 patients
AA Bousfiha, B Gathmann, B Gathmann, B Piqueras, B Seymour, C Casulo, C Wehr, DF Florescu, E Becerra, E Castigli, ES Resnick, FA Bonilla, G Gunther, H Chapel, H Chapel, H Griffiths, Hilary J. Longhurst, HM Chapel, I De La Torre, I Quinti, J Blore, J Shortt, JA Freeman, JD Edgar, John Dempster, JS Orange, JS Orange, K Warnatz, K Warnatz, L Mouthon, Lorena Lorenzo, M Lucas, M Makatsori, M Yomota, Matthaios Speletas, Matthew Buckland, ME Conley, ME Rose, MJ Boumans, N Ozaras, N Venhoff, NH Yip, P Bright, P McLaughlin, P Wood, R Herriot, S Baris, S Bernatsky, S Molica, Sai S. Duraisingham, Sofia Grigoriadou, SS Duraisingham, T Kawano, U Salzer, W Al-Herz, W Strober   +55 more
core   +3 more sources

Centralized rapid genetic diagnosis of combined immunodeficiency in Japan

Pediatrics International, Volume 67, Issue 1, January/December 2025.
Abstract Purpose Severe combined immunodeficiency (SCID) is a pediatric emergency, and rapid genetic diagnosis is necessary for proper patient management, leading to successful stem cell transplantation and gene therapy. Ataxia telangiectasia (AT) requires early diagnosis to prevent infectious diseases and early detection of cancer.
Tamaki Kato, Yumi Ogura, Chikako Kamae, Tzu‐Wen Yeh, Tsubasa Okano, Junya Take, Kanako Mitsui‐Sekinaka, Kunihiko Moriya, Janine Reichenbach, Pandiarajan Vignesh, Amit Rawat, Surjit Singh, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio, Osamu Ohara, Kohsuke Imai, Shigeaki Nonoyama   +17 more
wiley   +1 more source

Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency

Human Mutation, Volume 2025, Issue 1, 2025.
Common variable immunodeficiency (CVID) is the most frequent symptomatic inborn error of immunity (IEI). CVID is genetically heterogeneous and occurs in sporadic or familial forms with different inheritance patterns. Monogenic mutations have been found in a low percentage of patients, and multifactorial or polygenic inheritance may be involved in ...
Tayebeh Ranjbarnejad, Hassan Abolhassani, Roya Sherkat, Mansoor Salehi, Fatemeh Ranjbarnejad, Nasimeh Vatandoost, Mohammadreza Sharifi, Aziz ur Rehman Aziz   +7 more
wiley   +1 more source

Protective role of antibodies in enteric virus infections: Lessons from primary and secondary immune deficiencies

Immunological Reviews, Volume 328, Issue 1, Page 243-264, November 2024.
Summary Enteric viruses are the main cause of acute gastroenteritis worldwide with a significant morbidity and mortality, especially among children and aged adults. Some enteric viruses also cause disseminated infections and severe neurological manifestations such as poliomyelitis.
Quentin Riller, Muriel Schmutz, Jacques Fourgeaud, Alain Fischer, Bénédicte Neven   +4 more
wiley   +1 more source

Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood

Pediatric Allergy and Immunology, Volume 35, Issue 10, October 2024.
Abstract Background In this study, we aimed to report long‐term follow‐up of our pediatric and adult patients with DCLRE1C (DNA cross‐link repair 1C) hypomorphic mutation who were diagnosed leaky severe combined immunodeficiency (SCID). Methods Eighteen patients (13 children and five adults), aged between 6 and 29 years were included.
Esra Hazar, Mehmet Ali Karaselek, Hasan Kapakli, Oznur Dogar, Serkan Kuccukturk, Vedat Uygun, Hasibe Artac, Sıdıka Fındık, Ali Sahin, Sevket Arslan, Sukru Guner, Ismail Reisli, Sevgi Keles   +12 more
wiley   +1 more source

A single center experience on PI3K/AKT/MTOR signaling defects: Towards pathogenicity assessment for four novel defects

Pediatric Allergy and Immunology, Volume 35, Issue 9, September 2024.
Abstract Background Phosphoinositide 3 kinases (PI3K) are lipid kinases expressed in lymphocytes/myeloid cells. PI3K/AKT/mTOR signaling defects present with recurrent infections, autoimmunity, lymphoproliferation, and agammaglobulinemia. Objective To characterize the PI3K/AKT/mTOR pathway defects and perform pathway analyses to assess novel variant ...
Hacer Neslihan Bildik, Saliha Esenboga, Sevil Oskay Halaclı, Betül Karaatmaca, Elif Soyak Aytekin, Nadira Nabiyeva, Ayşegul Akarsu, Melike Ocak, Baran Erman, Cagman Tan, Tugba Arikoglu, Ismail Yaz, Begum Cicek, Ilhan Tezcan, Deniz Cagdas   +14 more
wiley   +1 more source

Cracking the type 1 diabetes code: Genes, microbes, immunity, and the early life environment

Immunological Reviews, Volume 325, Issue 1, Page 23-45, August 2024.
Summary Type 1 diabetes (T1D) results from a complex interplay of genetic predisposition, immunological dysregulation, and environmental triggers, that culminate in the destruction of insulin‐secreting pancreatic β cells. This review provides a comprehensive examination of the multiple factors underpinning T1D pathogenesis, to elucidate key mechanisms ...
Christopher Yau, Jayne S. Danska
wiley   +1 more source

Orodental health status of patients with inborn errors of immunity

International Journal of Paediatric Dentistry, Volume 34, Issue 4, Page 453-463, July 2024.
Abstract Background Various orodental problems affect patients with inborn errors of immunity (IEI), but there are limited studies on these issues. Aim To study orodental status and its confounding factors in patients with IEI. Design Caries, enamel defects, gingival, and soft tissue conditions were examined.
Thitaya Chaiboonyarak, Soranun Chantarangsu, Patcharaporn Gavila, Mongkol Lao‐Araya, Narissara Suratannon, Thantrira Porntaveetus   +5 more
wiley   +1 more source

X-linked agammaglobulinemia with bronchiectasis and infection： a case report [PDF]

Zhenduanxue lilun yu shijian
X-linked agammaglobulinemia (XLA) is a rare disease characterized by severe hypogammaglobulinemia, antibody deficiency, and recurrent infections. This study reports a case of X-linked agammaglobulinemia combined with bronchiectasis and infection.
LIN Jiayuan, CHENG Qijian, CHEN Ling
doaj   +1 more source