A novel non-coding mutation in C1q that causes C1q deficiency associated with recurrent infections

Immunobiology ◽  
2012 ◽  
Vol 217 (11) ◽  
pp. 1132
Author(s):  
Leendert Trouw ◽  
Joris Schonkeren ◽  
Nina Daha ◽  
Nivine Levarht ◽  
Anja Roos ◽  
...  
Immunobiology ◽  
2015 ◽  
Vol 220 (3) ◽  
pp. 422-427 ◽  
Author(s):  
Rosanne A. van Schaarenburg ◽  
Nina A. Daha ◽  
Joris J.M. Schonkeren ◽  
E.W. Nivine Levarht ◽  
Danielle J. van Gijlswijk-Janssen ◽  
...  

2017 ◽  
Vol 23 ◽  
pp. 214
Author(s):  
Mohammad El-Rifai ◽  
Issra Jamal ◽  
Gaurav Bhalla ◽  
Naveen Kakumanu ◽  
Saleh Aldasouqi

2015 ◽  
Vol 24 (4) ◽  
pp. 531-533 ◽  
Author(s):  
Daniel Popa ◽  
Mihaela Laszlo ◽  
Lidia Ciobanu ◽  
Elena Ucenic ◽  
Manuela Mihalache ◽  
...  

A fecal microbiota transplant has proved to be an extremely effective method for patients with recurrent infections with Clostridium difficile. We present the case of a 65-year-old female patient with multiple Clostridium difficile infection (CDI) relapses on the rectal remnant, post-colectomy for a CDI-related toxic megacolon. The patient also evidenced associated symptomatic Clostridium difficile vaginal infection. She was successfully treated with serial fecal “minitransplants” (self-administered at home) and metronidazole ovules.Abbreviations: GI: gastrointestinal; MRI: magnetic resonance imaging; CDI: Clostridium difficile infection; FMT: fecal microbiota transplant.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Brigitte W. M. Willemse ◽  
Saskia N. van der Crabben ◽  
Wilhelmina S. Kerstjens-Frederikse ◽  
Wim Timens ◽  
Joris M. van Montfrans ◽  
...  

AbstractWe report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transplantation failed to cure another patient. Our findings suggest that the immunological abnormalities can be limited and do not fully explain the LICS phenotype.


2021 ◽  
Vol 9 (7) ◽  
pp. 1416
Author(s):  
Karen Leth Nielsen ◽  
Marc Stegger ◽  
Kristoffer Kiil ◽  
Berit Lilje ◽  
Karen Ejrnæs ◽  
...  

Recurrent urinary tract infection (rUTI) remains a major problem for many women and therefore the pursuit for genomic and phenotypic traits which could define rUTI has been ongoing. The present study applied a genomic approach to investigate recurrent urinary tract infections by comparative analyses of recurrent and non-recurrent Escherichia coli isolates from general practice. From whole-genome sequencing data, phylogenetic clustering and genomic traits were studied on a collection of isolates which caused recurrent infection compared to non-recurrent isolates. In addition, genomic variation between the 1st and following infection was studied on a subset of the isolates. Evidence of limited adaptation between the recurrent infections based on single nucleotide polymorphism analyses with a range of 0–13 non-synonymous single nucleotide polymorphisms (SNPs) between the paired isolates. This included an overrepresentation of SNPs in metabolism genes. We identified several genes which were more common in rUTI isolates, including nine fimbrial genes, however, not significantly after false-discovery rate. Finally, the results show that recurrent isolates of the present dataset are not distinctive by variation in the core genome, and thus, did not cluster distinct from non-rUTI isolates in a SNP phylogeny.


2006 ◽  
Vol 13 (3) ◽  
pp. 329-332 ◽  
Author(s):  
Hale Yarmohammadi ◽  
Lissette Estrella ◽  
John Doucette ◽  
Charlotte Cunningham-Rundles

ABSTRACT Primary immunodeficiency results in recurrent infections, organ dysfunction, and autoimmunity. We studied 237 patients referred for suspicion of immunodeficiency, using a scoring system based on clinical information. The 113 patients with immunodeficiency had higher scores and more episodes of chronic illnesses and were more likely to have neutropenia, lymphopenia, or splenomegaly.


1978 ◽  
Vol 120 (4) ◽  
pp. 449-451 ◽  
Author(s):  
Francis A. Deture ◽  
David M. Drylie ◽  
Herbert E. Kaufman ◽  
Ysolina M. Centifanto

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