Zobrazeno 1 - 10
of 549
pro vyhledávání: '"inborn error of immunity"'
Autor:
Abbas khalili
Publikováno v:
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, Vol 32, Iss 1, Pp 7405-7415 (2024)
Introduction: Inborn error of immunity (IEI) includes variety of genetic disorders that affect both the innate and acquired immune system. The number of primary immune deficiency disorders is increasing due to advanced laboratory testing methods. The
Externí odkaz:
https://doaj.org/article/5d3704424c4d449f81c27d412e33522a
Autor:
Alejandro Nieto-Patlán, Natalia S. Fernández Dávila, Yuqing Wang, Michelle Zelnick, Eyal Muscal, Martha Curry, James R. Lupski, Steven M. Holland, Bo Yuan, Douglas B. Kuhns, Tiphanie P. Vogel, Ivan K. Chinn
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionSystemic lupus erythematosus is a multi-faceted autoimmune disorder of complex etiology. Pre-pubertal onset of pediatric systemic lupus erythematosus (pSLE) is uncommon and should raise suspicion for a genetic driver of disease. Autosomal
Externí odkaz:
https://doaj.org/article/5926a4b411d84bacae707c1d876e5f92
Autor:
Geoffrey Hall, Janet G. Markle, James Maiarana, Paul L. Martin, Jennifer A. Rothman, John W. Sleasman, Howard Lederman, Antoine E. Azar, Robert A. Brodsky, Talal Mousallem
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
A 20-year-old male patient with a history of celiac disease came to medical attention after developing profound fatigue and pancytopenia. Evaluation demonstrated pan-hypogammaglobulinemia. There was no history of significant clinical infections. Bone
Externí odkaz:
https://doaj.org/article/5324ac2bf76d46c88d830dc944e94e14
Autor:
Vasily Burlakov, MD, Anna Kozlova, PhD, Dmitry Pershin, PhD, Yulia Rodina, MD, PhD, Igor Khamin, MD, Galina Novichkova, MD, PhD, Ivona Aksentijevich, PhD, Anna Shcherbina, MD, PhD
Publikováno v:
Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 3, Pp 100251- (2024)
A patient presented with overlapping clinical and laboratory features of 2 rare autoinflammatory diseases, NLRP1-associated autoinflammation with arthritis and dyskeratosis and familial multiple self-healing palmoplantar carcinoma. Her severe inflamm
Externí odkaz:
https://doaj.org/article/210227899b844bb195a274154294107a
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Sweet syndrome is an acute febrile neutrophilic dermatosis characterized by the infiltration of neutrophils into the skin. It may occur idiopathically or be linked to malignancies, inflammatory or autoimmune diseases. Leukocyte adhesion deficiency ty
Externí odkaz:
https://doaj.org/article/2098303c667a4cd9b138ab73ec34ea13
Autor:
Joanne J. F. Wang, Arün Dhir, Kyla J. Hildebrand, Stuart E. Turvey, Robert Schellenberg, Luke Y. C. Chen, Persia Pourshahnazari, Catherine M. Biggs
Publikováno v:
Allergy, Asthma & Clinical Immunology, Vol 20, Iss 1, Pp 1-8 (2024)
Abstract Inborn errors of immunity (IEIs) are a group of conditions whereby parts of the immune system are missing or dysfunctional. Once thought to primarily be a pediatric disorder, it is now estimated that more than 50% of worldwide incident IEI c
Externí odkaz:
https://doaj.org/article/bef2be6a521b4c328034777f254ae817
Autor:
Dieu T. Doan, MD, Paige V. Strebeck, MD, Andrew D. Tran, MD, Jason E. Farrar, MD, Lauren E. Appell, MD, Arunkumar J. Modi, MBBS, MPH, Akilah A. Jefferson, MD, MSc
Publikováno v:
Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 4, Pp 100313- (2024)
Prompt evaluation and genetic testing of patients who present with recurrent and recalcitrant warts, before onset of severe infection or myelodysplastic syndrome, leads to improved outcomes in patients with GATA2 deficiency.
Externí odkaz:
https://doaj.org/article/1bcf5094ba034ed6a5988b6ba8312710
Autor:
Geoffrey Hall, Ágnes Donkó, Cristina Pratt, Julie J. Kim-Chang, Paul L. Martin, Amy P. Stallings, John W. Sleasman, Steven M. Holland, Amy P. Hsu, Thomas L. Leto, Talal Mousallem
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
We report the case of a 1-week-old male born full-term, who had two inconclusive severe combined immunodeficiency (SCID) newborn screens and developed scalp cellulitis and Escherichia coli bacteremia. He did not pass early confirmatory hearing screen
Externí odkaz:
https://doaj.org/article/378194d6bbd641198e83f5f2775078f5
Autor:
Catherine King, Katie Ridge, James Smyth, Aisling M. Flinn, Timothy Ronan Leahy, Niall Conlon
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
The effective transition from pediatric to adult care for individuals with chronic medical conditions should address the medical, psychosocial and educational needs of the cohort. The views and experiences of service users and their families are an i
Externí odkaz:
https://doaj.org/article/d48650f28a6743b195857352f85da06f
Autor:
Eetu Pello, MD, Leena Kainulainen, MD, PhD, Mikko Vakkilainen, MSc, Paula Klemetti, MD, PhD, Mervi Taskinen, MD, PhD, Outi Mäkitie, MD, PhD, Svetlana Vakkilainen, MD, PhD
Publikováno v:
Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 1, Pp 100190- (2024)
Background: Cartilage–hair hypoplasia (CHH) is a syndromic inborn error of immunity caused by variants in the RMRP gene. Disease manifestations vary, and their ability to predict outcome is uncertain. The optimal management of infants with CHH who
Externí odkaz:
https://doaj.org/article/ab35bfd8701d45edb02fe235ad93b1ef