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Autoimmune lymphoproliferative syndrome

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https://www.readbyqxmd.com/read/27913462/pure-red-cell-aplasia
#1
Robert T Means
Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Diamond-Blackfan anemia is a congenital form of PRCA. Acquired PRCA may be either a primary disorder or secondary to some other disorder or agent. Primary acquired PRCA is an autoimmune disorder that is frequently antibody-mediated. Myelodysplastic syndromes may also present with the morphologic appearance of PRCA. Secondary acquired PRCA may be associated with collagen vascular/autoimmune disorders such as systemic lupus erythematosus; lymphoproliferative disorders such as chronic lymphocytic leukemia or large granular lymphocyte leukemia; infections, particularly B19 parvovirus; thymoma and other solid tumors; or a variety of other disorders, drugs, or toxic agents...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27881371/pure-red-cell-aplasia
#2
REVIEW
Robert T Means
Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Diamond-Blackfan anemia is a congenital form of PRCA. Acquired PRCA may be either a primary disorder or secondary to some other disorder or agent. Primary acquired PRCA is an autoimmune disorder that is frequently antibody-mediated. Myelodysplastic syndromes may also present with the morphologic appearance of PRCA. Secondary acquired PRCA may be associated with collagen vascular/autoimmune disorders such as systemic lupus erythematosus; lymphoproliferative disorders such as chronic lymphocytic leukemia or large granular lymphocyte leukemia; infections, particularly B19 parvovirus; thymoma and other solid tumors; or a variety of other disorders, drugs, or toxic agents...
November 24, 2016: Blood
https://www.readbyqxmd.com/read/27878477/paraneoplastic-pemphigus-and-autoimmune-blistering-diseases-associated-with-neoplasm-characteristics-diagnosis-associated-neoplasms-proposed-pathogenesis-treatment
#3
REVIEW
Saritha Kartan, Vivian Y Shi, Ashley K Clark, Lawrence S Chan
Autoimmune paraneoplastic and neoplasm-associated skin syndromes are characterized by autoimmune-mediated cutaneous lesions in the presence of a neoplasm. The identification of these syndromes provides information about the underlying tumor, systemic symptoms, and debilitating complications. The recognition of these syndromes is particularly helpful in cases of skin lesions presenting as the first sign of the malignancy, and the underlying malignancy can be treated in a timely manner. Autoimmune paraneoplastic and neoplasm-associated bullous skin syndromes are characterized by blister formation due to an autoimmune response to components of the epidermis or basement membrane in the context of a neoplasm...
November 22, 2016: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/27873163/an-update-on-the-use-of-immunomodulators-in-primary-immunodeficiencies
#4
REVIEW
Pandiarajan Vignesh, Amit Rawat, Surjit Singh
The genomic revolution in the past decade fuelled by breathtaking advances in sequencing technologies has defined several new genetic diseases of the immune system. Many of these newly characterized diseases are a result of defects in genes involved in immune regulation. The discovery of these diseases has opened a vista of new therapeutic possibilities. Immunomodulatory agents, a hitherto unexplored therapeutic option in primary immunodeficiency diseases have been tried in a host of these newly described maladies...
November 21, 2016: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/27848183/an-atypical-case-of-late-onset-systemic-lupus-erythematosus-with-systemic-lymphadenopathy-and-severe-autoimmune-thrombocytopenia-neutropenia-mimicking-malignant-lymphoma
#5
Keita Tamaki, Satoko Morishima, Sawako Nakachi, Sakiko Kitamura, Sachie Uchibori, Shouhei Tomori, Taeko Hanashiro, Natsuki Shimabukuro, Iori Tedokon, Kazuho Morichika, Yukiko Nishi, Takeaki Tomoyose, Kennosuke Karube, Takuya Fukushima, Hiroaki Masuzaki
Here, we report a rare case of systemic lupus erythematosus (SLE) with conspicuous manifestation of hematological abnormalities. At onset, the 52-year-old male patient showed systemic lymphadenopathy and splenomegaly, severe autoimmune thrombocytopenia, and autoimmune neutropenia. Bone marrow examination and lymph node biopsy excluded the possibility of malignant lymphoma. Based on laboratory findings, he was finally diagnosed with combined autoimmune cytopenia coupled with SLE. Atypical clinical manifestations of SLE prompted us to explore the possibility of autoimmune lymphoproliferative syndrome (ALPS)...
November 15, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27846610/bone-marrow-findings-in-autoimmune-lymphoproliferative-syndrome-with-germline-fas-mutation
#6
Yi Xie, Stefania Pittaluga, Susan Price, Mark Raffeld, Jamie Hahn, Elaine S Jaffe, V Koneti Rao, Irina Maric
Autoimmune lymphoproliferative syndrome is rare genetic disorder characterized by defective FAS-mediated apoptosis, autoimmune disease, accumulation of mature T-cell receptor alpha/beta positive, CD4 and CD8 double-negative T cells and increased risk for lymphoma. Despite frequent hematological abnormalities, literature is scarce regarding the bone marrow pathology in autoimmune lymphoproliferative syndrome. We retrospectively reviewed 3l bone marrow biopsies from a cohort of 240 patients with germline FAS mutation...
October 20, 2016: Haematologica
https://www.readbyqxmd.com/read/27845235/haploinsufficiency-of-tnfaip3-a20-by-germline-mutation-is-involved-in-autoimmune-lymphoproliferative-syndrome
#7
Masatoshi Takagi, Shohei Ogata, Hiroo Ueno, Kenichi Yoshida, Tzuwen Yeh, Akihiro Hoshino, Jinhua Piao, Motoy Yamashita, Mai Nanya, Tsubasa Okano, Michiko Kajiwara, Hirokazu Kanegane, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Yuki Bando, Motohiro Kato, Yasuhide Hayashi, Satoru Miyano, Kohsuke Imai, Seishi Ogawa, Seiji Kojima, Tomohiro Morio
BACKGROUND: Autoimmune diseases in children are rare and can be difficult to diagnose. Autoimmune lymphoproliferative syndrome (ALPS) is a well-characterized pediatric autoimmune disease caused by mutations in genes associated with the FAS-dependent apoptosis pathway. In addition, various genetic alterations are associated with the ALPS-like phenotype. OBJECTIVE: The aim of the present study was to elucidate the genetic etiology of the ALPS-like phenotype. METHODS: Candidate genes associated with the ALPS-like phenotype were screened by whole exome sequencing...
November 11, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27837196/abnormal-thymic-maturation-and-lymphoproliferation-in-mrl-faslpr-lpr-mice-can-be-partially-reversed-by-synthetic-oligonucleotides-implications-for-systemic-lupus-erythematosus-and-autoimmune-lymphoproliferative-syndrome
#8
R F Ashman, N Singh, P S Lenert
MRL-Fas (lpr/lpr) mice represent an excellent animal model for studying non-malignant lymphoproliferation, regeneration and systemic autoimmunity. Retro-transposon insertion into the second intron of the pro-apoptotic Fas gene appears to be responsible for both lymphoproliferation and autoimmunity, while other genes are more likely to contribute to the regenerative healing characteristic of this mouse strain. Previous studies have shown that neonatal thymectomy can halt the development of abnormal lymphoproliferation...
November 10, 2016: Lupus
https://www.readbyqxmd.com/read/27799292/sumo-modified-fadd-recruits-cytosolic-drp1-and-caspase-10-to-mitochondria-for-regulated-necrosis
#9
Seon-Guk Choi, Hyunjoo Kim, Eun Il Jeong, Sungwoo Park, Song-Yi Lee, Hyeon-Jeong Lee, Seong Won Lee, Chin Ha Chung, Yong-Keun Jung
Fas-associated protein with Death Domain (FADD) plays a key role in extrinsic apoptosis. Herein, we show that FADD is SUMOylated as an essential step during intrinsic necrosis. FADD was modified at multiple lysine residues (K120/125/149) by Small Ubiquitin-related Modifier 2 (SUMO2) during necrosis caused by calcium ionophore A23187 and by ischemic damage. SUMOylated FADD bound to dynamin-related protein 1 (Drp1) in cells both in vitro and in ischemic tissue damage cores, thus promoting Drp1 recruitment by Mitochondrial fission factor (Mff) to accomplish mitochondrial fragmentation...
October 31, 2016: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/27789675/evolution-of-disease-activity-and-biomarkers-on-and-off-rapamycin-in-28-patients-with-autoimmune-lymphoproliferative-syndrome
#10
Christian Klemann, Myrian Esquivel, Aude Magerus-Chatinet, Myriam R Lorenz, Ilka Fuchs, Nathalie Neveux, Martin Castelle, Jan Rohr, Claudia Bettoni da Cunha, Martin Ebinger, Robin Kobbe, Bernhard Kremens, Florian Kollert, Eleonora Gambineri, Kai Lehmberg, Markus G Seidel, Kathrin Siepermann, Thomas Voelker, Volker Schuster, Sigune Goldacker, Klaus Schwarz, Carsten Speckmann, Capucine Picard, Alain Fischer, Frederic Rieux-Laucat, Stephan Ehl, Anne Rensing-Ehl, Benedicte Neven
No abstract text is available yet for this article.
October 27, 2016: Haematologica
https://www.readbyqxmd.com/read/27770190/a-fas-ligand-variant-associated-with-autoimmune-lymphoproliferative-syndrome-in-cats
#11
Danielle Aberdein, John S Munday, Barbara Gandolfi, Keren E Dittmer, Richard Malik, Dorian J Garrick, Leslie A Lyons
British shorthair (BSH) kittens in multiple litters died as a result of a severe non-neoplastic lymphoproliferative disease that showed many similarities with human autoimmune lymphoproliferative syndrome (ALPS). Human ALPS is caused by inherited defects in FAS-mediated lymphocyte apoptosis and the possibility of similar defects was investigated in BSH cats. The whole genomes of two affected kittens were sequenced and compared to 82 existing cat genomes. Both BSH kittens had homozygous insertions of an adenine within exon 3 of the FAS-ligand gene...
October 21, 2016: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/27723989/-extrahepatic-manifestations-of-hcv-infection
#12
Petr Husa
Extrahepatic manifestations of hepatitis C virus infection (HCV) are very common. The most common of these is mixed cryoglobulinaemia. Anti-HCV antibodies and viral ribonucleic acid, HCV RNA, can be found in the cryoprecipitates, together with the rheumatoid factor. Cryoglobulins consist of a complex of immunoglobulins that in vitro precipitate upon the cooling bellow the human body temperature. Vasculitis is caused by the deposition of such immune complexes in the small blood vessels. A link with the HCV infection is considered to be established with membranoproliferative glomerulonephritis, leukocytoclastic vasculitis, lymphoproliferative disorders (in particular B cell lymphoma), Sjögren and sicca syndrome, lichen planus, porfyria cutanea tarda and diabetes mellitus...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27692490/-primary-immunodeficiencies-in-seriously-ill-children-report-of-3-clinical-cases
#13
Leticia Yañez, Pamela Lama, Carolina Rivacoba, Juanita Zamorano, Maria Angélica Marinovic
: Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder. OBJECTIVE: To present and discuss 3 infants diagnosed with PID. CLINICAL CASES: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit...
September 27, 2016: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/27614846/cellular-and-molecular-mechanisms-of-immune-dysregulation-and-autoimmunity
#14
Gholamreza Azizi, Mohsen Rastegar Pouyani, Hassan Abolhassani, Laleh Sharifi, Majid Zaki Dizaji, Javad Mohammadi, Abbas Mirshafiey, Asghar Aghamohammadi
Primary immunodeficiencies (PIDs) constitute a large group of rare disorders that affect the function of the immune system. A specific group of PIDs entitled "diseases of immune dysregulation" are developed due to mutation in the genes which have critical roles in the regulation of immune responses and immunological tolerance. This group of PID patients develop autoimmune and inflammatory disorders as a result of their impaired immunity, therefore they could be considered as a model for analyzing the link between immune dysregulation and autoimmunity...
August 27, 2016: Cellular Immunology
https://www.readbyqxmd.com/read/27579193/autoimmune-lymphoproliferative-syndrome-a-rare-cause-of-disappearing-hdl-syndrome
#15
Swetha Sriram, Avni Y Joshi, Vilmarie Rodriguez, Seema Kumar
The term disappearing HDL syndrome refers to development of severe high density lipoprotein cholesterol (HDL-C) deficiency in noncritically ill patients with previously normal HDL-C and triglyceride levels. Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of the immune system due to an inability to regulate lymphocyte homeostasis resulting in lymphadenopathy and hepatosplenomegaly. We describe a 17-year-old boy who was evaluated in the lipid clinic for history of undetectable or low HDL-C and low density lipoprotein cholesterol (LDL-C) levels...
2016: Case Reports in Immunology
https://www.readbyqxmd.com/read/27492260/lymphoma-secondary-to-congenital-and-acquired-immunodeficiency-syndromes-at-a-turkish-pediatric-oncology-center
#16
Hikmet G Tanyildiz, Handan Dincaslan, Gulsan Yavuz, Emel Unal, Aydan Ikinciogulları, Figen Dogu, Nurdan Tacyildiz
The prevalence of lymphoma in primary immunodeficiency cases and autoimmune diseases, as well as on a background of immunodeficiency following organ transplants, is increasing. The lymphoma treatment success rate is known to be a low prognosis. Our study aimed to emphasize the low survival rates in immunodeficient vs. immunocompetent lymphoma patients and also to investigate the effect of rituximab in patients with ataxia telangiectasia and other immunodeficiencies. We summarized the clinical characteristics and treatment results of 17 cases with primary immunodeficiency that developed non-Hodgkin lymphoma (NHL) and Hodgkin lymphoma (HL) retrospectively...
October 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27447678/mycophenolate-mofetil-for-the-treatment-of-children-with%C3%A2-immune-thrombocytopenia-and-evans-syndrome-a-retrospective-data-review-from-the-italian-association-of-paediatric-haematology-oncology
#17
Maurizio Miano, Ugo Ramenghi, Giovanna Russo, Laura Rubert, Angelica Barone, Fabio Tucci, Piero Farruggia, Angelamaria Petrone, Anna Mondino, Laura Lo Valvo, Nicoletta Crescenzio, Francesco Bellia, Irene Olivieri, Elena Palmisani, Ilaria Caviglia, Carlo Dufour, Francesca Fioredda
Mycophenolate mofetil (MMF) has been shown to be effective in children with immune thrombocytopenia (ITP) and Evans syndrome (ES), but data from larger series and details on the timing of the response are lacking. We evaluated 56 children treated with MMF for ITP (n = 40) or ES (n = 16), which was primary or secondary to autoimmune lymphoproliferative syndrome -related syndrome (ARS). Thirty-five of the 54 evaluable patients (65%) achieved a partial (18%) or complete (46%) response after a median (range) of 20 (7-137) and 37 (7-192) d, respectively...
November 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27391055/decreased-function-of-fas-and-variations-of-the-perforin-gene-in-adult-patients-with-primary-immune-thrombocytopenia
#18
Elena Boggio, Casimiro L Gigliotti, Davide Rossi, Eleonora Toffoletti, Giuseppe Cappellano, Nausicaa Clemente, Simona Puglisi, Monia Lunghi, Michaela Cerri, Nicola Vianelli, Silvia Cantoni, Alessia Tieghi, Eloise Beggiato, Gianluca Gaidano, Cristoforo Comi, Annalisa Chiocchetti, Renato Fanin, Umberto Dianzani, Francesco Zaja
A defective switching off of the immune response is involved in several autoimmune diseases. This switching off involves Fas-mediated apoptosis, perforin-mediated fratricide of activated lymphocytes, and the suppressive activity of regulatory T (Treg) cells. These mechanisms are altered in autoimmune lymphoproliferative syndrome that often displays autoimmune thrombocytopenia. The aim of this research was to evaluate these mechanisms in adult patients with primary immune thrombocytopenia (ITP), compared with healthy controls...
July 8, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27378136/atypical-presentation-of-autoimmune-lymphoproliferative-syndrome-due-to-casp10-mutation
#19
Serena Ilaria Tripodi, Cinzia Mazza, Daniele Moratto, Ugo Ramenghi, Roberta Caorsi, Marco Gattorno, Raffaele Badolato
Herein we describe the case of a 8-years-old boy with diagnosis of atypical autoimmune lymphoproliferative syndrome (ALPS), carrying heterozygous mutation of CASP10 gene (I406L). He presented with multiple non-invasive infections of the skin, that were associated to chronic non-malignant non-infectious lymphadenopathy, failure to thrive, weakness, arthralgia, relapsing oral aftosis, and expansion of TCRαβ(+) CD4(-)/CD8(-) T cells. This observation suggests that cutaneous infections can be observed in ALPS patients carrying CASP10 mutations...
September 2016: Immunology Letters
https://www.readbyqxmd.com/read/27312164/management-of-chronic-immune-thrombocytopenia-in-children-and-adolescents-lessons-from-an-austrian-national-cross-sectional-study-of-81-patients
#20
J Sipurzynski, B Fahrner, R Kerbl, R Crazzolara, N Jones, G Ebetsberger, B Jauk, V Strenger, B Wohlmuther, W Schwinger, H Lackner, C Urban, W Holter, M Minkov, L Kager, M Benesch, M G Seidel
Chronic immune thrombocytopenia (cITP) is often associated with an underlying predisposition towards autoimmunity, recognition of which is relevant to guide treatment. International recommendations on diagnostic steps and therapeutic measures of cITP in childhood exist. However, due to the low prevalence (1-2/100,000) and a variation of availability of immunological and hematological tests and treatments across pediatric units, we postulated that these guidelines are not uniformly adhered to and that immune dysregulation syndromes remained undiscovered...
April 2016: Seminars in Hematology
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