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Neurological involvement in patients with primary immunodeficiency.
Kose H, Karali Z, Bodur M, Cekic S, Kilic SS. Kose H, et al. Allergol Immunopathol (Madr). 2024 Jan 1;52(1):85-92. doi: 10.15586/aei.v52i1.961. eCollection 2024. Allergol Immunopathol (Madr). 2024. PMID: 38186198
INTRODUCTION: Primary immunodeficiency diseases (PID) are defined by recurrent infections, allergies, autoimmunity, and malignancies. Neurologic symptoms are one of the major components of some immunodeficiency syndromes, such as Ataxia-Telangiectasia (AT), Nijme …
INTRODUCTION: Primary immunodeficiency diseases (PID) are defined by recurrent infections, allergies, autoimmunity, and malign …
Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.
Giżewska M, Durda K, Winter T, Ostrowska I, Ołtarzewski M, Klein J, Blankenstein O, Romanowska H, Krzywińska-Zdeb E, Patalan MF, Bartkowiak E, Szczerba N, Seiberling S, Birkenfeld B, Nauck M, von Bernuth H, Meisel C, Bernatowska EA, Walczak M, Pac M. Giżewska M, et al. Front Immunol. 2020 Oct 16;11:1948. doi: 10.3389/fimmu.2020.01948. eCollection 2020. Front Immunol. 2020. PMID: 33178177 Free PMC article.
In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two centers in Warsaw, a partnership in the field of newborn screening (NBS) for severe primary immunodeficiency diseases (PID), m …
In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two …
Evaluation of awareness about primary immunodeficiencies among physicians before and after implementation of the educational program: A longitudinal study.
Hariyan T, Kinash M, Kovalenko R, Boyarchuk O. Hariyan T, et al. PLoS One. 2020 May 29;15(5):e0233342. doi: 10.1371/journal.pone.0233342. eCollection 2020. PLoS One. 2020. PMID: 32470021 Free PMC article.
In 2019 the doctors demonstrated better knowledge on the warning signs of PID and specific features of Nijmegen breakage syndrome, DiGeorge syndrome and ataxia-telangiectasia syndrome. ...
In 2019 the doctors demonstrated better knowledge on the warning signs of PID and specific features of Nijmegen breakage sy …
Antioxidant Defense, Redox Homeostasis, and Oxidative Damage in Children With Ataxia Telangiectasia and Nijmegen Breakage Syndrome.
Maciejczyk M, Heropolitanska-Pliszka E, Pietrucha B, Sawicka-Powierza J, Bernatowska E, Wolska-Kusnierz B, Pac M, Car H, Zalewska A, Mikoluc B. Maciejczyk M, et al. Front Immunol. 2019 Sep 27;10:2322. doi: 10.3389/fimmu.2019.02322. eCollection 2019. Front Immunol. 2019. PMID: 31611883 Free PMC article.
Ataxia-telangiectasia (AT) and Nijmegen breakage syndrome (NBS) belong to a group of primary immunodeficiency diseases (PI) characterized by premature aging, cerebral degeneration, immunoglobulin deficiency and higher cancer susceptibility. ...
Ataxia-telangiectasia (AT) and Nijmegen breakage syndrome (NBS) belong to a group of primary immunodeficiency …
Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.
Buchbinder D, Hauck F, Albert MH, Rack A, Bakhtiar S, Shcherbina A, Deripapa E, Sullivan KE, Perelygina L, Eloit M, Neven B, Pérot P, Moshous D, Suarez F, Bodemer C, Bonilla FA, Vaz LE, Krol AL, Klein C, Seppanen M, Nugent DJ, Singh J, Ochs HD. Buchbinder D, et al. J Clin Immunol. 2019 Jan;39(1):81-89. doi: 10.1007/s10875-018-0581-0. Epub 2019 Jan 3. J Clin Immunol. 2019. PMID: 30607663 Free PMC article.
The association of immunodeficiency-related vaccine-derived rubella virus (iVDRV) with cutaneous and visceral granulomatous disease has been reported in patients with primary immunodeficiency disorders (PIDs). The majority of these PID patients with rubella-positive …
The association of immunodeficiency-related vaccine-derived rubella virus (iVDRV) with cutaneous and visceral granulomatous disease has been …
Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT).
Deripapa E, Balashov D, Rodina Y, Laberko A, Myakova N, Davydova NV, Gordukova MA, Abramov DS, Pay GV, Shelikhova L, Prodeus AP, Maschan MA, Maschan AA, Shcherbina A. Deripapa E, et al. Front Immunol. 2017 Jul 24;8:807. doi: 10.3389/fimmu.2017.00807. eCollection 2017. Front Immunol. 2017. PMID: 28791007 Free PMC article.
BACKGROUND: Nijmegen breakage syndrome (NBS) is a combined primary immunodeficiency with DNA repair defect, microcephaly, and other phenotypical features. ...
BACKGROUND: Nijmegen breakage syndrome (NBS) is a combined primary immunodeficiency with DNA repair defec …
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A, Bleesing J, Booth C, Buechner J, Buckley RH, Ouachée-Chardin M, Deripapa E, Drabko K, Eapen M, Feuchtinger T, Finocchi A, Gaspar HB, Ghosh S, Gillio A, Gonzalez-Granado LI, Grunebaum E, Güngör T, Heilmann C, Helminen M, Higuchi K, Imai K, Kalwak K, Kanazawa N, Karasu G, Kucuk ZY, Laberko A, Lange A, Mahlaoui N, Meisel R, Moshous D, Muramatsu H, Parikh S, Pasic S, Schmid I, Schuetz C, Schulz A, Schultz KR, Shaw PJ, Slatter MA, Sykora KW, Tamura S, Taskinen M, Wawer A, Wolska-Kuśnierz B, Cowan MJ, Fischer A, Gennery AR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies; Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE); Center for International Blood and Marrow Transplant Research; Primary Immunodeficiency Treatment Consortium. Slack J, et al. J Allergy Clin Immunol. 2018 Jan;141(1):322-328.e10. doi: 10.1016/j.jaci.2017.02.036. Epub 2017 Apr 7. J Allergy Clin Immunol. 2018. PMID: 28392333 Free PMC article.
Hematopoietic cell transplantation (HCT) is curative, but coadministered chemotherapy or radiotherapy is damaging because of systemic radiosensitivity. We collected HCT outcome data for Nijmegen breakage syndrome, DNA ligase IV deficiency, Cernunnos-XRCC4-lik …
Hematopoietic cell transplantation (HCT) is curative, but coadministered chemotherapy or radiotherapy is damaging because of systemic radios …
Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency.
Cipe FE, Aydogmus C, Babayigit Hocaoglu A, Kilic M, Kaya GD, Yilmaz Gulec E. Cipe FE, et al. Case Rep Pediatr. 2014;2014:614238. doi: 10.1155/2014/614238. Epub 2014 Jan 8. Case Rep Pediatr. 2014. PMID: 24511403 Free PMC article.
Because of that she had low IgG and IgA levels, normal IgM level, and absence of B cells in peripheral blood; she was considered as primary immunodeficiency, Nijmegen breakage syndrome. A mutation in NBS1 gene was not found; then Cernunnos/XLF d …
Because of that she had low IgG and IgA levels, normal IgM level, and absence of B cells in peripheral blood; she was considered as prima …
Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.
Borte S, von Döbeln U, Fasth A, Wang N, Janzi M, Winiarski J, Sack U, Pan-Hammarström Q, Borte M, Hammarström L. Borte S, et al. Blood. 2012 Mar 15;119(11):2552-5. doi: 10.1182/blood-2011-08-371021. Epub 2011 Nov 30. Blood. 2012. PMID: 22130802 Free article.
A robust triplex PCR method for quantitation of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs), using a single Guthrie card punch, was developed and validated in a cohort of 2560 anonymized newborn screening cards and in 49 orig …
A robust triplex PCR method for quantitation of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles ( …
Chronic noninfectious necrotizing granulomas in a child with Nijmegen breakage syndrome.
Vogel CA, Stratman EJ, Reck SJ, Lund JJ. Vogel CA, et al. Pediatr Dermatol. 2010 May-Jun;27(3):285-9. doi: 10.1111/j.1525-1470.2010.01140.x. Pediatr Dermatol. 2010. PMID: 20609147 Review.
Nijmegen breakage syndrome (NBS) is a chromosomal breakage disorder with characteristic physical features, chromosomal instability, and combined immunodeficiency. ...Herein we report a patient with NBS who developed chronic refractory necrotizing granulomatou …
Nijmegen breakage syndrome (NBS) is a chromosomal breakage disorder with characteristic physical features, chromosomal …
Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome.
Bekiesińska-Figatowska M, Chrzanowska KH, Jurkiewicz E, Wakulińska A, Rysiewskis H, Gładkowska-Dura M, Walecki J. Bekiesińska-Figatowska M, et al. Acta Neurobiol Exp (Wars). 2004;64(4):503-9. doi: 10.55782/ane-2004-1532. Acta Neurobiol Exp (Wars). 2004. PMID: 15586667 Free article.
The results of brain MRI are presented in 22 patients with documented Nijmegen breakage syndrome (NBS), aged from 1 and 9/12 to 20 years. ...In 2 patients callosal hypoplasia was accompanied by other anomalies: abnormal cerebrospinal fluid spaces. Sinusitis w …
The results of brain MRI are presented in 22 patients with documented Nijmegen breakage syndrome (NBS), aged from 1 and …
Cranial MRI in the Nijmegen breakage syndrome.
Bekiesińska-Figatowska M, Chrzanowska KH, Sikorska J, Walecki J, Krajewska-Walasek M, Jóźwiak S, Kleijer WJ. Bekiesińska-Figatowska M, et al. Neuroradiology. 2000 Jan;42(1):43-7. doi: 10.1007/s002340050011. Neuroradiology. 2000. PMID: 10663471
In one patient callosal hypoplasia was accompanied by abnormal cerebrospinal fluid spaces and wide cerebral cortex, suspicious of pachygyria. Sinusitis was present in all ten patients, as a result of primary immunodeficiency. As in ataxia teleangiectasia and other b …
In one patient callosal hypoplasia was accompanied by abnormal cerebrospinal fluid spaces and wide cerebral cortex, suspicious of pachygyria …
Therapy for non-Hodgkin lymphoma in children with primary immunodeficiency: analysis of 19 patients from the BFM trials.
Seidemann K, Tiemann M, Henze G, Sauerbrey A, Müller S, Reiter A. Seidemann K, et al. Med Pediatr Oncol. 1999 Dec;33(6):536-44. doi: 10.1002/(sici)1096-911x(199912)33:6<536::aid-mpo3>3.0.co;2-z. Med Pediatr Oncol. 1999. PMID: 10573576 Clinical Trial.
BACKGROUND: Non-Hodgkin lymphomas (NHL) represent an important complication of primary immunodeficiency (ID), posing new therapeutic challenges in this patient population. ...Six patients suffered from humoral ID, 13 patients from combined ID (ataxia teleangiectasia …
BACKGROUND: Non-Hodgkin lymphomas (NHL) represent an important complication of primary immunodeficiency (ID), posing new thera …