Results 71 to 80 of about 224,710 (181)

Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis.

, 1997
Inherited mutations of the Fas/Apo1/CD95 gene, a cell-surface receptor involved in cell death signaling and in the control of self-reactivity, characterize the recently identified autoimmune lymphoproliferative syndromes. A patient with type 2 autoimmune
NISINI R, VAJRO P, ALMERIGHI C, IANNI A, COSTANZO A, NATOLI G, IORIO, RAFFAELE, LEVRERO M. FASAPO MUTATIONS AND AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME IN A. PATIENT WITH TYPE AUTOIMMUNE H.E.P.A.T.I.T.I.S. GASTROENTEROLOGY, VEGNENTE A, BALSANO C, ACCAPEZZATO D, PENSATI L   +11 more
core   +1 more source

Novel associations for hypothyroidism include known autoimmune risk loci [PDF]

, 2011
Hypothyroidism is the most common thyroid disorder, affecting about 5% of the general population. Here we present the first large genome-wide association study of hypothyroidism, in 2,564 cases and 24,448 controls from the customer base of 23andMe, Inc.,
Amy K. Kiefer (160836), David A. Hinds (128908), Eriksson Nicholas, Kiefer Amy K., Joanna L. Mountain (173244), Joyce Y. Tung (160861), Francke Uta, Chuong B. Do, Nicholas Eriksson (54415), Uta Francke (41540), Hinds David A., David A Hinds, Tung Joyce Y., Joyce Y Tung, Nicholas Eriksson, Amy K Kiefer, Joanna L Mountain, Chuong B. Do (22097), Mountain Joanna L., Joanna L. Mountain, Do Chuong B., Uta Francke, Joyce Y. Tung, Chuong B Do, Amy K. Kiefer, David A. Hinds   +25 more
core   +1 more source

Polyglandular syndrome type 2 during adolescence | L’adolescente affetto da una malattia rara per l’età: la sindrome polighiandolare autoimmune di tipo 2

, 2023
Introduction: Primary adrenal insufficiency (PAI) in childhood is a life-threatening disease most commonly due to impaired steroidogenesis. Differently from adulthood, autoimmune adrenalitis is a rare condition amongst PAI’s main aetiologies and could ...
Arrigoni M., Antoniazzi F., Gaudino R., Cavarzere P.   +3 more
core   +1 more source

Adrenal function in patients with diabetes mellitus type 1 (young adults)

, 2009
Background: The Addison disease of the autoimmune etiology is mostly appearing as a part of APS2 whereas the most dangerous is a combination of DM1 and an autoimmune adrenalitis.
Šimůnková, Kateřina
core  

Association between Antibodies to the MR 67,000 Isoform of Glutamate Decarboxylase (GAD) and Type 1 (Insulin-Dependent) Diabetes Mellitus with Coexisting Autoimmune Polyendocrine Syndrome Type II [PDF]

, 1994
By using an immunoprecipitation assay, we analysed reactivity of autoantibodies to human recombinant GAD65 and GAD67 in sera from patients with autoimmune polyendocrine syndrome Type II (APS II) with and without Type 1 (insulin-dependent) diabetes ...
Seißler, Jochen, Bieg, Sabine, Yassin, Nadja, Mauch, Ludwig, Böhm, Bernhard Otto, Northemann, Wolfgang, Scherbaum, Werner A.   +6 more
core   +1 more source

Autoimmune lymphoproliferative syndrome [PDF]

, 2006
Review on Autoimmune lymphoproliferative syndrome, with data on clinics, and the genes ...
Dianzani, U, Ramenghi, U
core   +1 more source

Ipilimumab-induced adrenalitis: a possible pitfall in 18F-FDG-PET/CT [PDF]

, 2015
Ipilimumab is a monoclonal antibody against the inhibitory CTLA-4 receptor expressed on T cells. It provokes an upregulation of the immune system. This substance was approved by the US Food and Drug Administration in 2011 and is since increasingly used ...
Burger, Irene A, Bacanovic, Sara, Hafner, Jürg, Huellner, Martin W, Stolzmann, Paul, Hafner J, Burger IA, Stolzmann P, Huellner MW, Bacanovic S   +9 more
core   +1 more source

Autoimmune Primary Adrenal Insufficiency in a Pregnant Patient Without Autoimmune Comorbidities

AACE Endocrinology and Diabetes
Autoimmune primary adrenal insufficiency (APAI), is rare in pregnancy but can be life threatening if left untreated. Diagnosing APAI during pregnancy is challenging, and clinical suspicion may be lower in patients without other autoimmune conditions.
Nicolas A. Reyes, Victoria McDonald, Silas A. Culver   +2 more
openaire   +2 more sources

Sensory Neuronopathy And Autoimmune Diseases

, 2015
Sensory neuronopathies (SNs) are a specific subgroup of peripheral nervous system diseases characterized by primary degeneration of dorsal root ganglia and their projections.
Nucci, Anamarli, Martinez, Alberto R M, França, Marcondes C, Nunes, Marcelo B, Martinez A.R.M., Franca M.C., Nunes M.B., Nucci A.   +7 more
core   +1 more source

Vanishing 17-Hydroxyprogesterone Concentrations in 21-Hydroxylase Deficiency

, 2018
We present a boy with a genetically proven congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. While massively elevated 17-hydroxyprogesterone (17-OHP) concentrations after birth led to the diagnosis, 17-OHP concentrations became ...
Stefan A. Wudy, Andreas Wegener-Panzer, Thomas Reinehr, Michaela F. Hartmann, Juliane Rothermel, Paul-Martin Holterhus   +5 more
core   +1 more source