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Quoted phrase not found in phrase index: "Type 3 autoimmune lymphoproliferative syndrome"
Page 1
ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies.
Consonni F, Gambineri E, Favre C. Consonni F, et al. Ann Hematol. 2022 Mar;101(3):469-484. doi: 10.1007/s00277-022-04761-7. Epub 2022 Jan 20. Ann Hematol. 2022. PMID: 35059842 Free PMC article. Review.
Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder characterized by benign or malignant lymphoproliferation and autoimmunity. ...FAS mutations may also be acquired or could become pathogenic when associated to variants in o
Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder characterized by benign or malig
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.
Mixed cryoglobulinemia (MC), type II and type III, refers to the presence of circulating cryoprecipitable immune complexes in the serum and manifests clinically by a classical triad of purpura, weakness and arthralgias. ...Differential diagnoses include a wide range …
Mixed cryoglobulinemia (MC), type II and type III, refers to the presence of circulating cryoprecipitable immune complexes in …
Recent advances in the concept and diagnosis of autoimmune pancreatitis and IgG4-related disease.
Okazaki K, Uchida K, Koyabu M, Miyoshi H, Takaoka M. Okazaki K, et al. J Gastroenterol. 2011 Mar;46(3):277-88. doi: 10.1007/s00535-011-0386-x. Epub 2011 Mar 11. J Gastroenterol. 2011. PMID: 21452084 Review.
Recent studies have suggested the existence of two subtypes of autoimmune pancreatitis (AIP): type 1 AIP, related to IgG4 (lymphoplasmacytic sclerosing pancreatitis); and type 2 AIP, related to a granulocytic epithelial lesion (idiopathic duct-centric chronic …
Recent studies have suggested the existence of two subtypes of autoimmune pancreatitis (AIP): type 1 AIP, related to IgG4 (lym …
A case of autoimmune severe acquired von Willebrand syndrome (type 3-like).
Gavva C, Patel P, Shen YM, Frenkel E, Sarode R. Gavva C, et al. Transfus Apher Sci. 2017 Jun;56(3):431-433. doi: 10.1016/j.transci.2017.04.006. Epub 2017 Apr 27. Transfus Apher Sci. 2017. PMID: 28512017
A large majority of AVWS cases are type 1 or type 2A-like and patients tend to have a mild to moderate bleeding tendency. We report a case of severe autoimmune AVWS in a woman with SLE who presented with clinical and laboratory features of type 3
A large majority of AVWS cases are type 1 or type 2A-like and patients tend to have a mild to moderate bleeding tendency. We r …
Prevalence of mixed cryoglobulinaemia syndrome and circulating cryoglobulins in a population-based survey: the Origgio study.
Monti G, Saccardo F, Castelnovo L, Novati P, Sollima S, Riva A, Sarzi-Puttini P, Quartuccio L, De Vita S, Galli M. Monti G, et al. Autoimmun Rev. 2014 Jun;13(6):609-14. doi: 10.1016/j.autrev.2013.11.005. Epub 2014 Jan 10. Autoimmun Rev. 2014. PMID: 24418294 Review.
Mixed cryoglobulinaemia syndrome (MCS) is associated with a number of infectious, autoimmune and lymphoproliferative disorders, particularly chronic hepatitis C infection. ...Forty-nine (3.1%) positively responded to at least two questions, including a …
Mixed cryoglobulinaemia syndrome (MCS) is associated with a number of infectious, autoimmune and lymphoproliferative di …
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 sought to identify novel genetic causes of autoimmunity presenting with neonatal diabetes (NDM) (di …
Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition, but rare cases r …
Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults.
Slade CA, Bosco JJ, Binh Giang T, Kruse E, Stirling RG, Cameron PU, Hore-Lacy F, Sutherland MF, Barnes SL, Holdsworth S, Ojaimi S, Unglik GA, De Luca J, Patel M, McComish J, Spriggs K, Tran Y, Auyeung P, Nicholls K, O'Hehir RE, Hodgkin PD, Douglass JA, Bryant VL, van Zelm MC. Slade CA, et al. Front Immunol. 2018 May 14;9:694. doi: 10.3389/fimmu.2018.00694. eCollection 2018. Front Immunol. 2018. PMID: 29867917 Free PMC article.
Unclassified hypogammaglobulinemia (HGG) was described in 22 patients (12.3%), IgG subclass deficiency (IGSCD) in 12 (6.7%), and specific antibody deficiency (SpAD) in 4 individuals (2.2%). ...CVID patients experienced significantly more non-infectious complications, such …
Unclassified hypogammaglobulinemia (HGG) was described in 22 patients (12.3%), IgG subclass deficiency (IGSCD) in 12 (6.7%), and spec …
Immune response in progressive multifocal leukoencephalopathy: an overview.
Weber T, Weber F, Petry H, Lüke W. Weber T, et al. J Neurovirol. 2001 Aug;7(4):311-7. doi: 10.1080/13550280152537166. J Neurovirol. 2001. PMID: 11517409 Review.
By far the most common underlying immunosuppressive illness is the acquired immune deficiency syndrome, accounting for about 85% of PML cases currently seen in clinical practice. PML may occur in patients with deficits in the humoral and/or cellular immune response such as …
By far the most common underlying immunosuppressive illness is the acquired immune deficiency syndrome, accounting for about 85% of P …
Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome.
Maric I, Pittaluga S, Dale JK, Niemela JE, Delsol G, Diment J, Rosai J, Raffeld M, Puck JM, Straus SE, Jaffe ES. Maric I, et al. Am J Surg Pathol. 2005 Jul;29(7):903-11. doi: 10.1097/01.pas.0000157997.61177.08. Am J Surg Pathol. 2005. PMID: 15958855
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder associated with defects in Fas-mediated apoptosis, characterized most often by childhood onset of lymphadenopathy, splenomegaly, hypergammaglobulinemia, and autoimmune phenomena. .
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder associated with defects in Fas-mediated apoptos
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