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Quoted phrase not found in phrase index: "Autoimmune lymphoproliferative syndrome type 1"
Page 1
Mixed cryoglobulinemia.
Ferri C. Ferri C. Orphanet J Rare Dis. 2008 Sep 16;3:25. doi: 10.1186/1750-1172-3-25. Orphanet J Rare Dis. 2008. PMID: 18796155 Free PMC article. Review.
Differential diagnoses include a wide range of systemic, infectious and neoplastic disorders, mainly autoimmune hepatitis, Sjogren's syndrome, polyarthritis, and B-cell lymphomas. ...Long-term monitoring is recommended in all MC patients to assure timely diagnosis a …
Differential diagnoses include a wide range of systemic, infectious and neoplastic disorders, mainly autoimmune hepatitis, Sjogren's …
Autoimmune pancreatitis--recent advances.
Novotný I, Díte P, Lata J, Nechutová H, Kianicka B. Novotný I, et al. Dig Dis. 2010;28(2):334-8. doi: 10.1159/000319410. Epub 2010 Sep 1. Dig Dis. 2010. PMID: 20814208
Extensive IgG4-positive plasma cells and T lymphocyte infiltration is a common characteristics of this disease. Recently, IgG4-RSC syndrome was extended to a new entity, characterized by IgG4 hypergammaglobulinemia and IgG4-positive plasma cell infiltration, this being con …
Extensive IgG4-positive plasma cells and T lymphocyte infiltration is a common characteristics of this disease. Recently, IgG4-RSC syndro …
Sjogren's Syndrome.
Papiris SA, Tsonis IA, Moutsopoulos HM. Papiris SA, et al. Semin Respir Crit Care Med. 2007 Aug;28(4):459-71. doi: 10.1055/s-2007-985667. Semin Respir Crit Care Med. 2007. PMID: 17764063 Review.
Sjogren's syndrome (SS) is a chronic, slowly progressive, inflammatory, autoimmune disease characterized by (1) lymphocytic infiltration of the exocrine glands leading to diminished or absent glandular secretion, and (2) marked B-lymphocytic cell hyperreactivity man …
Sjogren's syndrome (SS) is a chronic, slowly progressive, inflammatory, autoimmune disease characterized by (1) lymphocytic in …
Rare diseases that mimic Systemic Lupus Erythematosus (Lupus mimickers).
Chasset F, Richez C, Martin T, Belot A, Korganow AS, Arnaud L. Chasset F, et al. Joint Bone Spine. 2019 Mar;86(2):165-171. doi: 10.1016/j.jbspin.2018.10.007. Epub 2018 Oct 26. Joint Bone Spine. 2019. PMID: 30837156 Review.
Some of these "SLE mimickers" are very common, such as rosacea which can be mistaken for the butterfly rash, while others such as Kikuchi disease, type-1 interferonopathies, Castleman's disease, prolidase deficiency, angioimmunoblastic T-cell lymphoma, Evans' syndrome …
Some of these "SLE mimickers" are very common, such as rosacea which can be mistaken for the butterfly rash, while others such as Kikuchi di …
Mutations in apoptosis genes: a pathogenetic factor for human disease.
Müllauer L, Gruber P, Sebinger D, Buch J, Wohlfart S, Chott A. Müllauer L, et al. Mutat Res. 2001 Jul;488(3):211-31. doi: 10.1016/s1383-5742(01)00057-6. Mutat Res. 2001. PMID: 11397650 Review.
Mutations in the homologous receptor Fas (also named CD95; Apo-1) are observed in malignant lymphomas, solid tumors and the autoimmune lymphoproliferative syndrome type I (ALPS I). A mutation in the ligand for Fas (Fas ligand; CD95 ligand, Apo-1 ligand …
Mutations in the homologous receptor Fas (also named CD95; Apo-1) are observed in malignant lymphomas, solid tumors and the autoimmune …
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A, Mushtaq T, Vukovic R, Didi M, Shaw N, Metherell LA, Savage MO, Storr HL. Andrews A, et al. J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4716-e4733. doi: 10.1210/clinem/dgab437. J Clin Endocrinol Metab. 2021. PMID: 34136918 Free PMC article.
RESULTS: Genetic diagnoses were identified in 80/149 subjects (54%) with 45/80 (56%) having known GH-IGF-I axis defects (GHR n = 40, IGFALS n = 4, IGFIR n = 1). The remaining 35/80 (44%) had diagnoses of 3M syndrome (n = 10) (OBSL1 n = 7, CUL7 n = 2, and CCDC8 n = 1), Noon …
RESULTS: Genetic diagnoses were identified in 80/149 subjects (54%) with 45/80 (56%) having known GH-IGF-I axis defects (GHR n = 40, IGFALS …
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.
Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, Ullah I, Alyaarubi S, Gardner D, Ellard S, Hattersley AT, Flanagan SE. Johnson MB, et al. Diabetes. 2017 Aug;66(8):2316-2322. doi: 10.2337/db17-0040. Epub 2017 May 4. Diabetes. 2017. PMID: 28473463 Free PMC article.
Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition, but rare cases result from monogenic autoimmunity. ...We performed exome sequencing in a patient with NDM and autoimmune lymphoproliferative …
Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition, but rare cases r …
Development of disseminated histiocytic sarcoma in a patient with autoimmune lymphoproliferative syndrome and associated Rosai-Dorfman disease.
Venkataraman G, McClain KL, Pittaluga S, Rao VK, Jaffe ES. Venkataraman G, et al. Am J Surg Pathol. 2010 Apr;34(4):589-94. doi: 10.1097/PAS.0b013e3181d5ddf8. Am J Surg Pathol. 2010. PMID: 20216376 Free PMC article.
Patients with autoimmune lymphoproliferative syndrome (ALPS) have defective lymphocyte apoptosis with increased risk for lymphoid malignancies. ...He presented at 10 months with hepatosplenomegaly and autoimmune hemolytic anemia and was diagnosed with …
Patients with autoimmune lymphoproliferative syndrome (ALPS) have defective lymphocyte apoptosis with increased risk fo …
Mutation in ITCH Gene Can Cause Syndromic Multisystem Autoimmune Disease With Acute Liver Failure.
Kleine-Eggebrecht N, Staufner C, Kathemann S, Elgizouli M, Kopajtich R, Prokisch H, Lainka E. Kleine-Eggebrecht N, et al. Pediatrics. 2019 Feb;143(2):e20181554. doi: 10.1542/peds.2018-1554. Pediatrics. 2019. PMID: 30705142
Later, we saw corticosteroid-sensitive rejections as well as a systemic autoimmune disease with detection of specific antibodies (de novo autoimmune hepatitis, thyroiditis with exophthalmos, diabetes mellitus type 1, and immune neutropenia). ...A biallelic mu …
Later, we saw corticosteroid-sensitive rejections as well as a systemic autoimmune disease with detection of specific antibodies (de …
30 Years of Experience with Non-Hodgkin Lymphoma in Children and Adolescents: a retrospective cohort study.
Oliveira MCL, Sampaio KC, Brito AC, Campos MK, Murao M, Gusmão R, Fernandes AAL, Viana MB. Oliveira MCL, et al. Rev Assoc Med Bras (1992). 2020 Feb 27;66(1):25-30. doi: 10.1590/1806-9282.66.1.25. eCollection 2020. Rev Assoc Med Bras (1992). 2020. PMID: 32130377 Free article.
Four patients had primary immunodeficiency, four had human immunodeficiency virus, two post-liver transplantation, and one had autoimmune lymphoproliferative syndrome. The most frequent histological type was NHL of mature B- cell (B-NHL-B; 67.1%), with …
Four patients had primary immunodeficiency, four had human immunodeficiency virus, two post-liver transplantation, and one had autoimmune …
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