13 research outputs found
Skuteczność rituximabu w leczeniu nawrotu zespołu nerczycowego po transplantacji nerki o przebiegu klinicznym zależnym od plazmaferezy - opis przypadku
Leczenie nawrotu zespołu nerczycowego po transplantacji
nerki jest trudne i w znacznej części przypadków
nieskuteczne. Stosowane dotąd metody leczenia
- nasilenie immunosupresji oraz powtarzana
plazmafereza - nie są skuteczne u około
połowy chorych.
W przedstawianym przypadku 5,5-letniego pacjenta
z natychmiastowym nawrotem zespołu nerczycowego
po transplantacji po wykonaniu 18 zabiegów plazmaferezy stwierdzono "zależność" choroby
od wymiany osocza - po zabiegu białkomocz
zmniejszał się i ponownie zwiększał.
Do leczenia włączono rituximab w dawce 4 × 375
mg/m2 i.v. pod kontrolą liczby komórek B CD19. Uzyskano
długotrwałą (8-miesięczną) remisję, której towarzyszyła
deplecja komórek B CD19 z krążenia. Nie
odnotowano działań niepożądanych tego leczenia
Progressive bronchiectasis and CMC in a patient with STAT1 GOF — a rare case of primary immunodeficiency
Bronchiestasis is a common complication developing in patients with primary immunodeficiency disorders. AD GOF STAT1 defi-ciency is characterized by CMC, repeated infections, and autoimmunity. It is the most frequently diagnosed entity in a group of PIDs with CMC. Here, we present the first Polish case of a female patient with early-onset bronchiestasis accompanied by CMC and a severe course of infections who was genetically diagnosed with AD GOF1 STAT1 mutation at the age of 15
National experience with adenosine deaminase deficiency related SCID in Polish children
IntroductionDeficiency of adenosine deaminase (ADA) manifests as severe combined immunodeficiency (SCID), caused by accumulation of toxic purine degradation by-products. Untreated patients develop immune and non-immune symptoms with fatal clinical course. According to ESID and EBMT recommendations enzyme replacement therapy (ERT) should be implemented as soon as possible to stabilize the patient’s general condition, normalize transaminases, treat pulmonary proteinosis, bone dysplasia, and protect from neurological damage. Hematopoietic stem cell transplantation (HSCT) from a matched related donor (MRD) is a treatment of choice. In absence of such donor, gene therapy (GT) should be considered. HSCT from a matched unrelated donor (MUD) and haploidentical hematopoietic stem cell transplantation (hHSCT) are associated with worse prognosis.Material and methodsWe retrospectively evaluated the clinical course and results of biochemical, immunological and genetic tests of 7 patients diagnosed in Poland with ADA deficiency since 2010 to 2022.ResultsAll patients demonstrated lymphopenia affecting of T, B and NK cells. Diagnosis was made on the basis of ADA activity in red blood cells and/or genetic testing. Patients manifested with various non-immunological symptoms including: lung proteinosis, skeletal dysplasia, liver dysfunction, atypical hemolytic-uremic syndrome, and psychomotor development disorders. Five patients underwent successful HSCT: 3 patients from matched unrelated donor, 2 from matched sibling donor, and 1 haploidentical from a parental donor. In 4 patients HSCT was preceded by enzyme therapy (lasting from 2 to 5 months). One patient with multiple organ failure died shortly after admission, before the diagnosis was confirmed. None of the patients had undergone gene therapy.ConclusionsIt is important to diagnose ADA SCID as early as possible, before irreversible multi-organ failure occurs. In Poland HSCT are performed according to international immunological societies recommendations, while ERT and GT are less accessible. Implementation of Newborn Screening (NBS) for SCID in Poland could enable recognition of SCID, including ADA-SCID
Common Variable Immune Deficiency in Children—Clinical Characteristics Varies Depending on Defect in Peripheral B Cell Maturation
Progressive Bronchiectasis and CMC in a Patient with STAT1 GOF—A Rare Case of Primary Immunodeficiency
Bronchiestasis is a common complication developing in patients with primary immunodeficiency disorders. AD GOF STAT1 defi-ciency is characterized by CMC, repeated infections, and autoimmunity. It is the most frequently diagnosed entity in a group of PIDs with CMC. Here, we present the first Polish case of a female patient with early-onset bronchiestasis accompanied by CMC and a severe course of infections who was genetically diagnosed with AD GOF1 STAT1 mutation at the age of 15
Image2_Current status and perspectives of the quality system in histocompatibility laboratories in Poland.jpg
Allogeneic transplantation is a multi-step process involving many clinicians and laboratory personnel working together to achieve a common goal—to maximize the recipients’ chance of survival and to improve their quality of life. One of the key elements of the process is to ensure high quality, accuracy, and reliability of histocompatibility testing. This manuscript presents: the development and organizational principles of the national system of supervision and control of histocompatibility laboratories in Poland, problems faced by these laboratories, availabe proficiency testing schemes, as well as suggestions and prospects for the future raised by members of the Polish histocompatibility community.</p
Table2_Current status and perspectives of the quality system in histocompatibility laboratories in Poland.docx
Allogeneic transplantation is a multi-step process involving many clinicians and laboratory personnel working together to achieve a common goal—to maximize the recipients’ chance of survival and to improve their quality of life. One of the key elements of the process is to ensure high quality, accuracy, and reliability of histocompatibility testing. This manuscript presents: the development and organizational principles of the national system of supervision and control of histocompatibility laboratories in Poland, problems faced by these laboratories, availabe proficiency testing schemes, as well as suggestions and prospects for the future raised by members of the Polish histocompatibility community.</p
Table1_Current status and perspectives of the quality system in histocompatibility laboratories in Poland.docx
Allogeneic transplantation is a multi-step process involving many clinicians and laboratory personnel working together to achieve a common goal—to maximize the recipients’ chance of survival and to improve their quality of life. One of the key elements of the process is to ensure high quality, accuracy, and reliability of histocompatibility testing. This manuscript presents: the development and organizational principles of the national system of supervision and control of histocompatibility laboratories in Poland, problems faced by these laboratories, availabe proficiency testing schemes, as well as suggestions and prospects for the future raised by members of the Polish histocompatibility community.</p
Image1_Current status and perspectives of the quality system in histocompatibility laboratories in Poland.jpg
Allogeneic transplantation is a multi-step process involving many clinicians and laboratory personnel working together to achieve a common goal—to maximize the recipients’ chance of survival and to improve their quality of life. One of the key elements of the process is to ensure high quality, accuracy, and reliability of histocompatibility testing. This manuscript presents: the development and organizational principles of the national system of supervision and control of histocompatibility laboratories in Poland, problems faced by these laboratories, availabe proficiency testing schemes, as well as suggestions and prospects for the future raised by members of the Polish histocompatibility community.</p