A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrine syndrome type 1 (APS-1) is caused by mutations in the autoimmune regulator (AIRE) gene. Most patients present with severe chronic mucocutaneous candidiasis and organ-specific autoimmunity from early childhood, but the clinical picture is highly variable. AIRE is crucial for negative selection of T cells, and scrutiny of different patient mutations has previously highlighted many of its molecular mechanisms. In patients with a milder adult-onset phenotype sharing a mutation in the canonical donor splice site of intron 7 (c.879+1G>A), both the predicted altered splicing pattern with loss of exon 7 (A...
Source: Journal of Clinical Investigation - November 1, 2023 Category: Biomedical Science Authors: Bergithe Eikeland Oftedal, Amund Holte Berger, Øyvind Bruserud, Yael Goldfarb, Andre Sulen, Lars Breivik, Alexander Hellesen, Shifra Ben-Dor, Rebecca Haffner-Krausz, Per M. Knappskog, Stefan Johansson, Anette S.B. Wolff, Eirik Bratland, Jakub Abramson, E Source Type: research
Pernicious Anemia Following COVID-19 Vaccination: A Report of Two Cases
Int J Hematol Oncol Stem Cell Res. 2023 Jul 1;17(3):220-223. doi: 10.18502/ijhoscr.v17i3.13312.ABSTRACTSince December 2019 and the global epidemic of COVID-19 different countries have focused on vaccines, and one of the inactivated produced vaccines was the Sinopharm COVID-19 vaccine. Some side effects of this vaccine were reported previously, including pain at the vaccination site, fatigue, lethargy, headache, and tenderness, which were more prevalent among individuals <49 years old. Herein, we reported two patients aged 45 and 51 years old. Both patients have different signs and symptoms after receiving the second dos...
Source: Cell Research - October 11, 2023 Category: Cytology Authors: Hamidreza Soltani Saeb Taghizade Abdolrahim Sadeghi Ali Farahat Mohammad Bagher Owlia Source Type: research
Apathetic state of mind due to pernicious anemia
Tijdschr Psychiatr. 2023;65(8):514-516.ABSTRACTIn this case study we describe a man who came to a mental health care centre (MHCC) with difficult to interpret complaints such as loss of fear and empathy, apathy and cognitive symptoms. In addition, he experienced a pronounced fatigue. Later he suffered from cold extremities, bilateral hypoesthesia of the hands and paresthesias of the legs. Routine laboratory tests initially showed no abnormalities. Only later a decreased hemoglobin and vitamin B12 value was seen in the context of a pernicious anemia. A treatment with vitamin B12 supplementation was started, after which grad...
Source: Tijdschrift voor Psychiatrie - September 27, 2023 Category: Psychiatry Authors: L Gezels K Van Durm R Bocken N Vanderbruggen Source Type: research
Apathetic state of mind due to pernicious anemia
Tijdschr Psychiatr. 2023;65(8):514-516.ABSTRACTIn this case study we describe a man who came to a mental health care centre (MHCC) with difficult to interpret complaints such as loss of fear and empathy, apathy and cognitive symptoms. In addition, he experienced a pronounced fatigue. Later he suffered from cold extremities, bilateral hypoesthesia of the hands and paresthesias of the legs. Routine laboratory tests initially showed no abnormalities. Only later a decreased hemoglobin and vitamin B12 value was seen in the context of a pernicious anemia. A treatment with vitamin B12 supplementation was started, after which grad...
Source: Tijdschrift voor Psychiatrie - September 27, 2023 Category: Psychiatry Authors: L Gezels K Van Durm R Bocken N Vanderbruggen Source Type: research
Apathetic state of mind due to pernicious anemia
Tijdschr Psychiatr. 2023;65(8):514-516.ABSTRACTIn this case study we describe a man who came to a mental health care centre (MHCC) with difficult to interpret complaints such as loss of fear and empathy, apathy and cognitive symptoms. In addition, he experienced a pronounced fatigue. Later he suffered from cold extremities, bilateral hypoesthesia of the hands and paresthesias of the legs. Routine laboratory tests initially showed no abnormalities. Only later a decreased hemoglobin and vitamin B12 value was seen in the context of a pernicious anemia. A treatment with vitamin B12 supplementation was started, after which grad...
Source: Tijdschrift voor Psychiatrie - September 27, 2023 Category: Psychiatry Authors: L Gezels K Van Durm R Bocken N Vanderbruggen Source Type: research
Apathetic state of mind due to pernicious anemia
Tijdschr Psychiatr. 2023;65(8):514-516.ABSTRACTIn this case study we describe a man who came to a mental health care centre (MHCC) with difficult to interpret complaints such as loss of fear and empathy, apathy and cognitive symptoms. In addition, he experienced a pronounced fatigue. Later he suffered from cold extremities, bilateral hypoesthesia of the hands and paresthesias of the legs. Routine laboratory tests initially showed no abnormalities. Only later a decreased hemoglobin and vitamin B12 value was seen in the context of a pernicious anemia. A treatment with vitamin B12 supplementation was started, after which grad...
Source: Tijdschrift voor Psychiatrie - September 27, 2023 Category: Psychiatry Authors: L Gezels K Van Durm R Bocken N Vanderbruggen Source Type: research
Apathetic state of mind due to pernicious anemia
Tijdschr Psychiatr. 2023;65(8):514-516.ABSTRACTIn this case study we describe a man who came to a mental health care centre (MHCC) with difficult to interpret complaints such as loss of fear and empathy, apathy and cognitive symptoms. In addition, he experienced a pronounced fatigue. Later he suffered from cold extremities, bilateral hypoesthesia of the hands and paresthesias of the legs. Routine laboratory tests initially showed no abnormalities. Only later a decreased hemoglobin and vitamin B12 value was seen in the context of a pernicious anemia. A treatment with vitamin B12 supplementation was started, after which grad...
Source: Tijdschrift voor Psychiatrie - September 27, 2023 Category: Psychiatry Authors: L Gezels K Van Durm R Bocken N Vanderbruggen Source Type: research
Apathetic state of mind due to pernicious anemia
Tijdschr Psychiatr. 2023;65(8):514-516.ABSTRACTIn this case study we describe a man who came to a mental health care centre (MHCC) with difficult to interpret complaints such as loss of fear and empathy, apathy and cognitive symptoms. In addition, he experienced a pronounced fatigue. Later he suffered from cold extremities, bilateral hypoesthesia of the hands and paresthesias of the legs. Routine laboratory tests initially showed no abnormalities. Only later a decreased hemoglobin and vitamin B12 value was seen in the context of a pernicious anemia. A treatment with vitamin B12 supplementation was started, after which grad...
Source: Tijdschrift voor Psychiatrie - September 27, 2023 Category: Psychiatry Authors: L Gezels K Van Durm R Bocken N Vanderbruggen Source Type: research
Apathetic state of mind due to pernicious anemia
Tijdschr Psychiatr. 2023;65(8):514-516.ABSTRACTIn this case study we describe a man who came to a mental health care centre (MHCC) with difficult to interpret complaints such as loss of fear and empathy, apathy and cognitive symptoms. In addition, he experienced a pronounced fatigue. Later he suffered from cold extremities, bilateral hypoesthesia of the hands and paresthesias of the legs. Routine laboratory tests initially showed no abnormalities. Only later a decreased hemoglobin and vitamin B12 value was seen in the context of a pernicious anemia. A treatment with vitamin B12 supplementation was started, after which grad...
Source: Tijdschrift voor Psychiatrie - September 27, 2023 Category: Psychiatry Authors: L Gezels K Van Durm R Bocken N Vanderbruggen Source Type: research
Apathetic state of mind due to pernicious anemia
Tijdschr Psychiatr. 2023;65(8):514-516.ABSTRACTIn this case study we describe a man who came to a mental health care centre (MHCC) with difficult to interpret complaints such as loss of fear and empathy, apathy and cognitive symptoms. In addition, he experienced a pronounced fatigue. Later he suffered from cold extremities, bilateral hypoesthesia of the hands and paresthesias of the legs. Routine laboratory tests initially showed no abnormalities. Only later a decreased hemoglobin and vitamin B12 value was seen in the context of a pernicious anemia. A treatment with vitamin B12 supplementation was started, after which grad...
Source: Tijdschrift voor Psychiatrie - September 27, 2023 Category: Psychiatry Authors: L Gezels K Van Durm R Bocken N Vanderbruggen Source Type: research
Apathetic state of mind due to pernicious anemia
Tijdschr Psychiatr. 2023;65(8):514-516.ABSTRACTIn this case study we describe a man who came to a mental health care centre (MHCC) with difficult to interpret complaints such as loss of fear and empathy, apathy and cognitive symptoms. In addition, he experienced a pronounced fatigue. Later he suffered from cold extremities, bilateral hypoesthesia of the hands and paresthesias of the legs. Routine laboratory tests initially showed no abnormalities. Only later a decreased hemoglobin and vitamin B12 value was seen in the context of a pernicious anemia. A treatment with vitamin B12 supplementation was started, after which grad...
Source: Tijdschrift voor Psychiatrie - September 27, 2023 Category: Psychiatry Authors: L Gezels K Van Durm R Bocken N Vanderbruggen Source Type: research
Apathetic state of mind due to pernicious anemia
Tijdschr Psychiatr. 2023;65(8):514-516.ABSTRACTIn this case study we describe a man who came to a mental health care centre (MHCC) with difficult to interpret complaints such as loss of fear and empathy, apathy and cognitive symptoms. In addition, he experienced a pronounced fatigue. Later he suffered from cold extremities, bilateral hypoesthesia of the hands and paresthesias of the legs. Routine laboratory tests initially showed no abnormalities. Only later a decreased hemoglobin and vitamin B12 value was seen in the context of a pernicious anemia. A treatment with vitamin B12 supplementation was started, after which grad...
Source: Tijdschrift voor Psychiatrie - September 27, 2023 Category: Psychiatry Authors: L Gezels K Van Durm R Bocken N Vanderbruggen Source Type: research
Apathetic state of mind due to pernicious anemia
Tijdschr Psychiatr. 2023;65(8):514-516.ABSTRACTIn this case study we describe a man who came to a mental health care centre (MHCC) with difficult to interpret complaints such as loss of fear and empathy, apathy and cognitive symptoms. In addition, he experienced a pronounced fatigue. Later he suffered from cold extremities, bilateral hypoesthesia of the hands and paresthesias of the legs. Routine laboratory tests initially showed no abnormalities. Only later a decreased hemoglobin and vitamin B12 value was seen in the context of a pernicious anemia. A treatment with vitamin B12 supplementation was started, after which grad...
Source: Tijdschrift voor Psychiatrie - September 27, 2023 Category: Psychiatry Authors: L Gezels K Van Durm R Bocken N Vanderbruggen Source Type: research
Apathetic state of mind due to pernicious anemia
Tijdschr Psychiatr. 2023;65(8):514-516.ABSTRACTIn this case study we describe a man who came to a mental health care centre (MHCC) with difficult to interpret complaints such as loss of fear and empathy, apathy and cognitive symptoms. In addition, he experienced a pronounced fatigue. Later he suffered from cold extremities, bilateral hypoesthesia of the hands and paresthesias of the legs. Routine laboratory tests initially showed no abnormalities. Only later a decreased hemoglobin and vitamin B12 value was seen in the context of a pernicious anemia. A treatment with vitamin B12 supplementation was started, after which grad...
Source: Tijdschrift voor Psychiatrie - September 27, 2023 Category: Psychiatry Authors: L Gezels K Van Durm R Bocken N Vanderbruggen Source Type: research
Apathetic state of mind due to pernicious anemia
Tijdschr Psychiatr. 2023;65(8):514-516.ABSTRACTIn this case study we describe a man who came to a mental health care centre (MHCC) with difficult to interpret complaints such as loss of fear and empathy, apathy and cognitive symptoms. In addition, he experienced a pronounced fatigue. Later he suffered from cold extremities, bilateral hypoesthesia of the hands and paresthesias of the legs. Routine laboratory tests initially showed no abnormalities. Only later a decreased hemoglobin and vitamin B12 value was seen in the context of a pernicious anemia. A treatment with vitamin B12 supplementation was started, after which grad...
Source: Tijdschrift voor Psychiatrie - September 27, 2023 Category: Psychiatry Authors: L Gezels K Van Durm R Bocken N Vanderbruggen Source Type: research
