Results 51 to 60 of about 5,770,503 (368)

Newborn screening for severe combined immunodeficiency and T‐cell lymphopenia

Immunological Reviews, 2018
The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots (DBS) made possible universal newborn screening (NBS) for severe combined immunodeficiency (SCID) as a public health measure.
J. Puck
semanticscholar   +1 more source

A computational pipeline for the diagnosis of CVID patients [PDF]

, 2019
Common variable immunodeficiency (CVID) is one of the most frequently diagnosed primary antibody deficiencies (PADs), a group of disorders characterized by a decrease in one or more immunoglobulin (sub) classes and/or impaired antibody responses caused ...
Bogaert, Delfien, Dullaers, Melissa, Emmaneel, Annelies, Haerynck, Filomeen, Saeys, Yvan, Tavernier, Simon, Van Gassen, Sofie   +6 more
core   +2 more sources

Dominant‐negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency

Journal of Clinical Investigation, 2018
&NA; Ikaros/IKZF1 is an essential transcription factor expressed throughout hematopoiesis. IKZF1 is implicated in lymphocyte and myeloid differentiation and negative regulation of cell proliferation. In humans, somatic mutations in IKZF1 have been linked
D. Boutboul, H. Kuehn, Zoé Van de Wyngaert, J. Niemela, I. Callebaut, J. Stoddard, C. Lenoir, V. Barlogis, C. Farnarier, F. Vely, N. Yoshida, S. Kojima, H. Kanegane, A. Hoshino, F. Hauck, L. Lhermitte, V. Asnafi, P. Roehrs, Shaoying Chen, J. Verbsky, K. Calvo, Ammar Husami, Kejian Zhang, Joseph L. Roberts, D. Amrol, John Sleaseman, A. Hsu, S. Holland, R. Marsh, A. Fischer, T. Fleisher, C. Picard, S. Latour, S. Rosenzweig   +33 more
semanticscholar   +1 more source

Potentiation of the abscopal effect by modulated electro-hyperthermia in locally advanced cervical cancer patients [PDF]

, 2020
Background: A Phase III randomized controlled trial investigating the addition of modulated electro-hyperthermia (mEHT) to chemoradiotherapy for locally advanced cervical cancer patients is being conducted in South Africa (Human Research Ethics Committee
Ayeni, Olusegun, Baeyens, Ans, Kotzen, Jeffrey, Minnaar, Carrie Anne, Vangu, Mboyo-Di-Tamba   +4 more
core   +2 more sources

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.

Blood, 2018
ARPC1B is a key factor for the assembly and maintenance of the ARP2/3 complex that is involved in actin branching from an existing filament. Germline biallelic mutations in ARPC1B have been recently described in 6 patients with clinical features of ...
I. Brigida, M. Zoccolillo, M. Cicalese, Laurène Pfajfer, F. Barzaghi, S. Scala, Carmen Oleaga-Quintas, J. A. Álvarez-Álvarez, L. Sereni, S. Giannelli, C. Sartirana, F. Dionisio, L. Pavesi, Marta Benavides-Nieto, L. Basso-Ricci, Paola Capasso, B. Mazzi, J. Rosain, Nufar Marcus, Y. Lee, R. Somech, M. Degano, G. Raiola, R. Caorsi, P. Picco, M. Moncada Velez, J. Khourieh, A. Arias, A. Bousfiha, T. Issekutz, A. Issekutz, B. Boisson, K. Dobbs, A. Villa, A. Lombardo, B. Neven, D. Moshous, J. Casanova, J. Franco, L. Notarangelo, C. Scielzo, S. Volpi, L. Dupré, J. Bustamante, M. Gattorno, A. Aiuti   +45 more
semanticscholar   +1 more source

Progressive Immunodeficiency with Gradual Depletion of B and CD4⁺ T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2)

Diseases, 2019
Immunodeficiency, centromeric instability and facial anomalies syndrome 2 (ICF2) is a rare autosomal recessive primary immunodeficiency disorder. So far, 27 patients have been reported. Here, we present three siblings with ICF2 due to a homozygous ZBTB24
Georgios Sogkas, Natalia Dubrowinskaja, Anke K. Bergmann, Jana Lentes, Tim Ripperger, Mykola Fedchenko, Diana Ernst, Alexandra Jablonka, Robert Geffers, Ulrich Baumann, Reinhold E. Schmidt, Faranaz Atschekzei   +11 more
doaj   +1 more source

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency

Frontiers in Immunology, 2021
Rare autosomal-recessive variants in tetratricopeptide repeat domain 7A (TTC7A) gene have been shown to cause intestinal and immune disorders of variable severity.
Wenjun Mou, Shen Yang, Ruolan Guo, Libing Fu, Li Zhang, Weihong Guo, Jingbin Du, Jianxin He, Qinghua Ren, Chanjuan Hao, Jingang Gui, Jinshi Huang   +11 more
doaj   +1 more source

Immune compromise in HIV-1/HTLV-1 coinfection with paradoxical resolution of CD4 lymphocytosis during antiretroviral therapy: a case report [PDF]

, 2015
Human immunodeficiency virus type-1 (HIV-1) and human T lymphotropic virus type-1 (HTLV-1) infections have complex effects on adaptive immunity, with specific tropism for, but contrasting effects on, CD4 T lymphocytes: depletion with HIV-1, proliferation
Bangham, C, Basnayake, S, Cook, L, Kagdi, H, Pozniak, A, Rockwood, N, Taylor, GP   +6 more
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Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network

Frontiers in Immunology, 2019
Severe combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune system, usually associated with severe or life-threatening infections. Due to the variability of clinical phenotypes, the diagnostic complexity and the heterogeneity of
E. Cirillo, C. Cancrini, C. Azzari, S. Martino, B. Martire, A. Pession, A. Tommasini, S. Naviglio, A. Finocchi, R. Consolini, P. Pierani, I. d'Alba, M. Putti, A. Marzollo, G. Giardino, Rosaria Prencipe, F. Esposito, F. Grasso, Alessia Scarselli, G. Di Matteo, Enrico Attardi, S. Ricci, D. Montin, F. Specchia, F. Barzaghi, M. Cicalese, G. Quaremba, V. Lougaris, S. Giliani, F. Locatelli, P. Rossi, A. Aiuti, R. Badolato, A. Plebani, C. Pignata   +34 more
semanticscholar   +1 more source

First Case Report of FOXN1 Haploinsufficiency in China and Literature Review

Xiehe Yixue Zazhi, 2023
Objective  To analyze the clinical and immunological characteristics of the first case of FOXN1 haploinsufficiency in China and summarize the clinical characteristics of previous reported cases in other countries.  Methods  The whole-exome sequencing(WES)
LI Wendao, GU Hao, WANG Wei, WU Runhui, SONG Hongmei   +4 more
doaj   +1 more source