Results 51 to 60 of about 1,264,950 (306)

The riddle of recurrent fever: a clinical approach to pediatric autoinflammatory diseases

Frontiers in Pediatrics
Autoinflammatory diseases (AIDs) are a group of immunodysregulatory disorders resulting in the increased release or signaling of pro-inflammatory cytokines.
B. Meertens, B. Meertens, L. Hoste, L. Hoste, S. J. Tavernier, S. J. Tavernier, S. J. Tavernier, S. J. Tavernier, F. Haerynck, F. Haerynck   +9 more
doaj   +1 more source

Predominantly antibody deficiency: case report

Revista Brasileira de Saúde Materno Infantil, 2023
Objectives: present a case of Inborn errors of immunity (IEI) as a potential diagnosis in pediatric patients with recurrent infections. Description: male patient, 13 years old, since he was eight months old had recurrent diarrhea, sinusitis, otitis ...
Louyse Jerônimo de Morais, Beatriz Brasileiro de Macedo Silva, Luís Alfredo Cezar Brito, Luíza Alcântara Pontes de Lemos, Matheus Soares Lustosa, Rafaela Ribeiro D’Azevedo Carneiro, Renata de Cerqueira Paes Correa Lima, Tainá Gomes Aragão, Veriana Márcia da Nóbrega   +8 more
doaj   +2 more sources

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature

Frontiers in Immunology, 2022
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative multisystem disorder. A minority of AT patients can present late-onset atypical presentations due to unknown mechanisms.
Tannaz Moeini Shad, Tannaz Moeini Shad, Reza Yazdani, Reza Yazdani, Reza Yazdani, Parisa Amirifar, Parisa Amirifar, Samaneh Delavari, Samaneh Delavari, Marzieh Heidarzadeh Arani, Seyed Alireza Mahdaviani, Mahnaz Sadeghi-Shabestari, Asghar Aghamohammadi, Nima Rezaei, Nima Rezaei, Nima Rezaei, Hassan Abolhassani, Hassan Abolhassani, Hassan Abolhassani, Hassan Abolhassani   +19 more
doaj   +1 more source

Screening of functional and positional candidate genes in families with common variable immunodeficiency

, 2008
Background: Common variable immunodeficiency (CVID) comprises a heterogeneous group of primary antibody deficiencies with complex clinical and immunological phenotypes.
Grimbacher, B, Thiel, J, Jung, J, Webster, A. David B., Webster, D, Schäffer, Alejandro A., Pan Hammarström, Q, Lougaris, V, Hammarström, L, Salzer, U, Hagena, Tina, Grimbacher, B., Jung, Johannes, Woellner, Cristina, MOSCHESE, VIVIANA, Schaffer, AA, Webster, DA, Birmelin, J, Pan-Hammarström, Qiang, Du, Likun, Schäffer, A, Birmelin, Jennifer, Woellner, C, Neumann, C, Salzer, Ulrich, Metin, A, Lougaris, Vassilios, Plebani, Alessandro, Hagena, T, Grimbacher, Bodo, Pan-Hammarstrom, Q, Du, L, Thiel, Jens, Hammarström, Lennart, Moschese, V, Hammarstroo, L, Metin, Ayse, Plebani, A, Neumann, Carla   +38 more
core   +1 more source

Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice

Journal of Clinical Immunology, 2017
The primary objective of population-based newborn screening is the early identification of asymptomatic infants with a range of severe diseases, for which effective treatment is available and where early diagnosis and intervention prevent serious ...
Jovanka R. King, L. Hammarström
semanticscholar   +1 more source

Autoinflammatory disease syndrome of hyperimmunoglobulinemia D

Медицинский вестник Юга России, 2022
Objective: present a clinical case of a rare autoinflammatory disease. Materials and methods: an analysis of a clinical case of mevalonate kinase deficiency syndrome in an 8-year-old girl was carried out.
T. M. Somova
doaj   +1 more source

Other well-defined immunodeficiency syndromes

, 2012
Five broad and major groups of PID classification have been known as CID, PAD, phagocyte disorders, complement deficiencies, as well as other well-defined immunodeficiency syndromes. The former includes Wiskott-Aldrich syndrome (WAS), which presents as a

core   +1 more source

Autoimmunity in human primary immunodeficiency diseases

, 2002
Human primary immunodeficiency diseases are experiments of nature characterized by an increased susceptibility to infection. In many cases, they are also associated with troublesome and sometimes life-threatening autoimmune complications. In the past few
Cant, Andrew J., Abinun, Mario, Peter D. Arkwright, Arkwright, Peter D.; id_orcid, Andrew J. Cant, Mario Abinun   +5 more
core   +1 more source

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

RAPID: Resource of Asian Primary Immunodeficiency Diseases

, 2009
Availability of a freely accessible, dynamic and integrated database for primary immunodeficiency diseases (PID) is important both for researchers as well as clinicians.
Miyawaki, T., Ohara, O., Ramabadran, S., Bhattacharjee, M., Raju, R., Ahmed, M., Mohan, S., Keerthikumar, S., Selvan, L. D. N., Kandasamy, K., Hijikata, A., Somanathan, D. S., Gollapudi, S., Balakrishnan, L., Pandey, A., Ramachandra, Y. L., Bhattacharyya, C., Bhadra, S., Rani, S., Nonoyama, S., Kanegane, H., Ray, S., Imai, K.   +22 more
core   +2 more sources