Zobrazeno 1 - 10
of 595
pro vyhledávání: '"INBORN ERROR OF IMMUNITY"'
Autor:
Allison S. Remiker, Joao Pedro Matias Lopes, Rohith Jesudas, Alexandra Superdock, Nami Park, Irina Pateva
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundPatients with recurrent, chronic, or refractory cytopenias represent a challenging subgroup that may harbor an underlying diagnosis, such as an inborn error of immunity (IEI). Patients with IEIs such as activated phosphoinositide 3-kinase d
Externí odkaz:
https://doaj.org/article/317269bf14a544a7a261a738b6d71199
Autor:
Yu Huang, Lu Li, Ran Chen, Lang Yu, Shunkai Zhao, Yanjun Jia, Ying Dou, Zhiyong Zhang, Yunfei An, Xuemei Tang, Xiaodong Zhao, Lina Zhou
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
BackgroundWHIM syndrome is a rare, autosomal dominant inborn error of immunity characterized by warts, hypogammaglobulinemia, infection, and myelokathexis. It is caused mainly by heterozygous mutations at the C-terminus of the C-X-C chemokine recepto
Externí odkaz:
https://doaj.org/article/9872af50823f499b94fd1f59fc7c5f13
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:
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:
Adil Karim, Rashi Garg, Biman Saikia, Abha Tiwari, Smrity Sahu, Mehak Malhotra, Ranjana W. Minz, Amit Rawat, Surjit Singh, Deepti Suri
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
BackgroundPatients with loss of function signal transducer and activator of transcription 3-related Hyper IgE Syndrome (LOF STAT3 HIES) present with recurrent staphylococcal skin and pulmonary infections along with the elevated serum IgE levels, ecze
Externí odkaz:
https://doaj.org/article/74133cf61e324bbfa36cdecfba5e5655
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