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Items: 1 to 20 of 206

1.
Recurrent Bacterial Infections in Cutaneous T-cell Lymphoma
Bharadwaj Adithya Sateesh, Yash V Bhagat, Sneha E Thomas, Aseem Sood, Miriam B Michael
Cureus. 2022 Jan; 14(1): e20912. Published online 2022 Jan 3. doi: 10.7759/cureus.20912
PMCID:
PMC8815712
ArticlePDF–435K
2.
SEMIPARAMETRIC REGRESSION MODEL FOR RECURRENT BACTERIAL INFECTIONS AFTER HEMATOPOIETIC STEM CELL TRANSPLANTATION
Chi Hyun Lee, Chiung-Yu Huang, Todd E. DeFor, Claudio G. Brunstein, Daniel J. Weisdorf, Xianghua Luo
Stat Sin. Author manuscript; available in PMC 2019 Sep 11.
Published in final edited form as: Stat Sin. 2019; 29(3): 1489–1509. doi: 10.5705/ss.202017.0397
PMCID:
PMC6739077
ArticlePDF–492K
3.
Distinct Mutations in IRAK-4 Confer Hyporesponsiveness to Lipopolysaccharide and Interleukin-1 in a Patient with Recurrent Bacterial Infections
Andrei E. Medvedev, Arnd Lentschat, Douglas B. Kuhns, Jorge C.G. Blanco, Cindy Salkowski, Shuling Zhang, Moshe Arditi, John I. Gallin, Stefanie N. Vogel
J Exp Med. 2003 Aug 18; 198(4): 521–531. doi: 10.1084/jem.20030701
PMCID:
PMC2194174
ArticlePDF–282K
4.
Defective neutrophil chemotaxis and raised serum ige levels in a child with recurrent bacterial infections and eczema. Influence of levamisole.
J De Cree, L Emmery, J Timmermans, R Eeckels, W De Cock, H Verhaegen
Arch Dis Child. 1978 Feb; 53(2): 144–149. doi: 10.1136/adc.53.2.144
PMCID:
PMC1545326
SummaryPage BrowsePDF–698K
5.
Rheumatoid factors in cystic fibrosis: associations with disease manifestations and recurrent bacterial infections.
M Coffey, J Hassan, C Feighery, M Fitzgerald, B Bresnihan
Clin Exp Immunol. 1989 Jul; 77(1): 52–57.
PMCID:
PMC1541909
SummaryPage BrowsePDF–964K
6.
How partial C7 deficiency with chronic and recurrent bacterial infections can mimic total C7 deficiency: temporary restoration of host C7 levels following plasma transfusion.
R Würzner, A E Platonov, V B Beloborodov, A I Pereverzev, I V Vershinina, B A Fernie, M J Hobart, P J Lachmann, A Orren
Immunology. 1996 Jul; 88(3): 407–411. doi: 10.1046/j.1365-2567.1996.d01-663.x
PMCID:
PMC1456337
SummaryPage BrowsePDF–976K
7.
Deficiency of the adhesive protein complex lymphocyte function antigen 1, complement receptor type 3, glycoprotein p150,95 in a girl with recurrent bacterial infections. Effects on phagocytic cells and lymphocyte functions.
A Fischer, R Seger, A Durandy, B Grospierre, J L Virelizier, F Le Deist, C Griscelli, E Fischer, M Kazatchkine, M C Bohler, et al.
J Clin Invest. 1985 Dec; 76(6): 2385–2392. doi: 10.1172/JCI112251
PMCID:
PMC424386
SummaryPage BrowsePDF–1.4M
8.
Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation
Shawn Tahata, Jody Weckwerth, Anna Ligezka, Miao He, Hee Eun Lee, Julie Heimbach, Samar H Ibrahim, Tamas Kozicz, Katryn Furuya, Eva Morava
Mol Genet Metab. Author manuscript; available in PMC 2024 Apr 1.
Published in final edited form as: Mol Genet Metab. 2023 Apr; 138(4): 107559. Published online 2023 Mar 17. doi: 10.1016/j.ymgme.2023.107559
PMCID:
PMC10164344
ArticlePDF–615K
9.
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation
Natalia Semenova, Olga Shatokhina, Olga Shchagina, Elena Kamenec, Andrey Marakhonov, Anna Degtyareva, Natalia Taran, Tatiana Strokova
Int J Mol Sci. 2023 Apr; 24(8): 7449. Published online 2023 Apr 18. doi: 10.3390/ijms24087449
PMCID:
PMC10140882
ArticlePDF–679K
10.
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up
Satoshi Ekuni, Kei Hirayama, Miwako Nagasaka, Keita Osumi, Hidehito Kondo, Erina Nakahara, Keiko Shimojima Yamamoto, Hitoshi Kanno, Yoshinori Katayama
Am J Case Rep. 2023; 24: e938396-1–e938396-6. Published online 2023 Apr 13. doi: 10.12659/AJCR.938396
PMCID:
PMC10106969
ArticlePDF–817K
11.
Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome
Rajesh Kumar, Samantha Milanesi, Martyna Szpakowska, Laura Dotta, Dario Di Silvestre, Anna Maria Trotta, Anna Maria Bello, Mauro Giacomelli, Manuela Benedito, Joana Azevedo, Alexandra Pereira, Emilia Cortesao, Alessandro Vacchini, Alessandra Castagna, Marinella Pinelli, Daniele Moratto, Raffaella Bonecchi, Massimo Locati, Stefania Scala, Andy Chevigné, Elena M. Borroni, Raffaele Badolato
JCI Insight. 2023 Mar 8; 8(5): e145688. Published online 2023 Mar 8. doi: 10.1172/jci.insight.145688
PMCID:
PMC10077478
ArticlePDF–1.1M
12.
Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants
Eriko Totsune, Tomohiro Nakano, Kunihiko Moriya, Daichi Sato, Dai Suzuki, Akinobu Miura, Saori Katayama, Hidetaka Niizuma, Junko Kanno, Menno C. van Zelm, Kohsuke Imai, Hirokazu Kanegane, Yoji Sasahara, Shigeo Kure
Front Immunol. 2021; 12: 677572. Published online 2021 Apr 12. doi: 10.3389/fimmu.2021.677572
PMCID:
PMC8072023
ArticlePDF–1.3M
13.
The negative charge of the 343 site is essential for maintaining physiological functions of CXCR4
Liqing Wang, Qiuhong Xiong, Ping Li, Guangxin Chen, Nayab Tariq, Changxin Wu
BMC Mol Cell Biol. 2021; 22: 8. Published online 2021 Jan 23. doi: 10.1186/s12860-021-00347-9
PMCID:
PMC7825245
ArticlePDF–2.5M
14.
Metabolic abnormalities in G6PC3-deficient human neutrophils result in severe functional defects
Christopher McKinney, Michael Ellison, Natalie J. Briones, Angelina Baroffio, John Murphy, Alexander D. Tran, Julie A. Reisz, Angelo D’Alessandro, Daniel R. Ambruso
Blood Adv. 2020 Dec 8; 4(23): 5888–5901. Published online 2020 Dec 1. doi: 10.1182/bloodadvances.2020002225
PMCID:
PMC7724913
ArticlePDF–2.0M
15.
Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency
Enrica E.K. Tan, Richard A. Hopkins, Chrissie K. Lim, Saumya S. Jamuar, Christina Ong, Koh C. Thoon, Mark J.A. Koh, Eun Mong Shin, Derrick W.Q. Lian, Madhushanee Weerasooriya, Christopher Z.W. Lee, Andreas Alvin Pumomo Soetedjo, Chang Siang Lim, Veonice B. Au, Edmond Chua, Hui Yin Lee, Leigh Ann Jones, Sharmy S. James, Nivashini Kaliaperumal, Jeffery Kwok, Ee Shien Tan, Biju Thomas, Lynn Xue Wu, Lena Ho, Anna Marie Fairhurst, Florent Ginhoux, Adrian K.K. Teo, Yong Liang Zhang, Kok Huar Ong, Weimiao Yu, Byrappa Venkatesh, Vinay Tergaonkar, Bruno Reversade, Keh Chuang Chin, Ah Moy Tan, Woei Kang Liew, John E. Connolly
J Clin Invest. 2020 Nov 2; 130(11): 5817–5832. Published online 2020 Sep 28. doi: 10.1172/JCI98882
PMCID:
PMC7598087
ArticlePDF–11M
16.
Molecular Characterization of Hemorrhagic Enteritis Virus (HEV) Obtained from Clinical Samples in Western Canada 2017–2018
Victor Palomino-Tapia, Darko Mitevski, Tom Inglis, Frank van der Meer, Mohamed Faizal Abdul-Careem
Viruses. 2020 Sep; 12(9): 941. Published online 2020 Aug 26. doi: 10.3390/v12090941
PMCID:
PMC7551992
ArticlePDF–2.3M
17.
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations
Andrea Martín-Nalda, Claudia Fortuny, Lourdes Rey, Tom D. Bunney, Laia Alsina, Ana Esteve-Solé, Daniel Bull, Maria Carmen Anton, María Basagaña, Ferran Casals, Angela Deyá, Marina García-Prat, Ramon Gimeno, Manel Juan, Helios Martinez-Banaclocha, Juan J Martinez-Garcia, Anna Mensa-Vilaró, Raquel Rabionet, Nieves Martin-Begue, Francesc Rudilla, Jordi Yagüe, Xavier Estivill, Vicente García-Patos, Ramon M. Pujol, Pere Soler-Palacín, Matilda Katan, Pablo Pelegrín, Roger Colobran, Asun Vicente, Juan I. Arostegui
J Clin Immunol. 2020; 40(7): 987–1000. Published online 2020 Jul 15. doi: 10.1007/s10875-020-00794-7
PMCID:
PMC7505877
ArticlePDF–1.9M
18.
Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia
Yu-Hsin Yeh, Meng-Ying Hsieh, Wen-I Lee, Jing-Long Huang, Li-Chen Chen, Kuo-Wei Yeh, Liang-Shiou Ou, Tsung-Chieh Yao, Chao-Yi Wu, Syh-Jae Lin
Front Immunol. 2020; 11: 2001. Published online 2020 Sep 4. doi: 10.3389/fimmu.2020.02001
PMCID:
PMC7498534
ArticlePDF–807K
19.
LIG4 syndrome: clinical and molecular characterization in a Chinese cohort
Bijun Sun, Qiuyu Chen, Ying Wang, Danru Liu, Jia Hou, Wenjie Wang, Wenjing Ying, Xiaoying Hui, Qinhua Zhou, Jinqiao Sun, Xiaochuan Wang
Orphanet J Rare Dis. 2020; 15: 131. Published online 2020 May 29. doi: 10.1186/s13023-020-01411-x
PMCID:
PMC7257218
ArticlePDF–2.6M
20.
Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling
Jacques G. Rivière, Clara Franco-Jarava, Mónica Martínez-Gallo, Aina Aguiló-Cucurull, Laura Blasco-Pérez, Ida Paramonov, María Antolín, Andrea Martín-Nalda, Pere Soler-Palacín, Roger Colobran
Front Immunol. 2020; 11: 46. Published online 2020 Feb 12. doi: 10.3389/fimmu.2020.00046
PMCID:
PMC7028698
ArticlePDF–669K

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