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Autoimmune lymphoproliferative syndrome

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https://www.readbyqxmd.com/read/28288231/-primary-immunodeficiencies-in-seriously-ill-children-report-of-3-clinical-cases
#1
Leticia Yáñez, Pamela Lama, Carolina Rivacoba, Juanita Zamorano, María 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. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28276715/inflammation-in-sj%C3%A3-gren-s-syndrome-cause-or-consequence
#2
Ana Raquel Rodrigues, Raquel Soares
Sjögren's syndrome (SS) is an autoimmune disease most commonly characterized by ocular and oral dryness. Despite the high prevalence of SS, generation and perpetuation of this disease is still unclear in many aspects. Inflammation, nonetheless, seems to play a central role in this pathology especially in the form of Th-1, Th-2 and Th-17 cytokines release within different aspects, concentrations and connections involved in the maintenance of the syndrome. Moreover, the chronically created pro-inflammatory environment appears to promote glandular atrophy and irreparable architectural modifications...
February 14, 2017: Autoimmunity
https://www.readbyqxmd.com/read/28123330/the-plethora-clinical-manifestations-and-treatment-options-of-autoimmunity-in-patients-with-primary-immunodeficiency
#3
Hatice Ezgi Barış, Ayça Kıykım, Ercan Nain, Ahmet Oğuzhan Özen, Elif Karakoç-Aydıner, Safa Barış
AIM: Although the association between primary immunodeficiency and autoimmunity is already well-known, it has once again become a topic of debate with the discovery of newly-defined immunodeficiencies. Thus, investigation of the mechanisms of development of autoimmunity in primary immunodefficiency and new target-specific therapeutic options has come to the fore. In this study, we aimed to examine the clinical findings of autoimmunity, autoimmunity varieties, and treatment responses in patients who were genetically diagnosed as having primary immunodeficiency...
December 2016: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28101633/erratum-to-a-fas-ligand-variant-associated-with-autoimmune-lymphoproliferative-syndrome-in-cats
#4
Danielle Aberdein, John S Munday, Barbara Gandolfi, Keren E Dittmer, Richard Malik, Dorian J Garrick, Leslie A Lyons
No abstract text is available yet for this article.
January 18, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28087326/autoimmune-lymphoproliferative-syndrome-caused-by-homozygous-fas-mutations-with-normal-or-residual-protein-expression
#5
Nourhen Agrebi, Lamia Sfaihi Ben-Mansour, Moez Medhaffar, Sondes Hadiji, Faten Fedhila, Meriem Ben-Ali, Najla Mekki, Mongia Hachicha, Sihem Barsaoui, Mohamed-Ridha Barbouche, Imen Ben-Mustapha
No abstract text is available yet for this article.
January 10, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28028990/acquired-von-willebrand-syndrome
#6
REVIEW
Andrzej Mital
Acquired von Willebrand syndrome is a rare hemorrhagic diathesis, with clinical symptoms similar to those associated with the inherited form von Willebrand disease. This syndrome is characterized by a lack of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Most commonly, acquired von Willebrand syndrome develops in the course of other conditions, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders; additionally, it can be associated with some non-hematological malignancies and use of certain prescription drugs...
November 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/27979843/unexplained-lymphadenopathies-autoimmune-lymphoproliferative-syndrome-in-an-adult-patient
#7
Fatima Leal-Seabra, Gonçalo Sarmento Costa, Henrique Pereira Coelho, Agripino Oliveira
Autoimmune lymphoproliferative syndrome (ALPS) is characterised by massive enlargement of the lymphoid organs, autoimmune cytopenias and a predisposition to develop lymphoid malignancies. The basic defect is a disturbance of the lymphocyte apoptosis, and a high number of circulating TCRab CD3(+)CD4(-)CD8(-) T-cells (double-negative T cells (DNT cells)). We describe a case of a 41-year-old man with fever, hepatosplenomegaly, multiple lymphadenopathy, autoimmune haemolytic anaemia and severe thrombocytopenia...
December 15, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27940897/corrigendum-to-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
https://www.readbyqxmd.com/read/27913462/pure-red-cell-aplasia
#9
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
#10
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
#11
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...
February 2017: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/27873163/an-update-on-the-use-of-immunomodulators-in-primary-immunodeficiencies
#12
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...
April 2017: 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
#13
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
#14
Yi Xie, Stefania Pittaluga, Susan Price, Mark Raffeld, Jamie Hahn, Elaine S Jaffe, V Koneti Rao, Irina Maric
Autoimmune lymphoproliferative syndrome is a 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 of lymphoma. Despite frequent hematologic 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 mutations...
February 2017: Haematologica
https://www.readbyqxmd.com/read/27845235/haploinsufficiency-of-tnfaip3-a20-by-germline-mutation-is-involved-in-autoimmune-lymphoproliferative-syndrome
#15
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 cause of the ALPS-like phenotype. METHODS: Candidate genes associated with the ALPS-like phenotype were screened by using whole-exome sequencing...
November 12, 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
#16
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
#17
Seon-Guk Choi, Hyunjoo Kim, Eun Il Jeong, Ho-June Lee, 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. Here, 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...
January 15, 2017: 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
#18
LETTER
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.
February 2017: Haematologica
https://www.readbyqxmd.com/read/27770190/a-fas-ligand-variant-associated-with-autoimmune-lymphoproliferative-syndrome-in-cats
#19
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...
February 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/27723989/-extrahepatic-manifestations-of-hcv-infection
#20
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
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