Results 51 to 60 of about 1,223,862 (192)

Síndrome de Hermansky - Pudlak : Hermansky-Pudlak Syndrome [PDF]

, 2022
Introdução: a síndrome de hermansky – pudlak é uma doença genética caracterizada por albinismo oculocutâneo, disfunção plaquetária, e em alguns casos também há colite, insuficiência renal e fibrose pulmonar. Apresentação do caso: paciente, 4 anos, buscou
Pacheco, Camila Graziele Fontes, Santos, Jordânia, Salgado, Uanda Beatriz Pereira, Cipriano, Fernando Neves, Fonseca, Abner Lourenço da, Dantas, Camila Pizarro, Nakao, Rodrigo Lima, Sá, Jana Lopes de, Sousa, João Rafael Alencar de, Filho, Robson Pierre Pacífico Alves, Braga, Aline Almeida, Kakumoto, Marília Alves, Chagas, Jaqueline Maria de Azevedo, Teston, Victória Maria Grandeaux, Rodrigues, Thais Morais, Mocellin, Amanda Pereira, Pereira, Franciely dos Passos, Sá, Jônatas Ferreira de, Freitas, Yago José Fagundes de, Velasco, Júlia Sanches de, Amorim, Gabriela Echenique, Franco, Natália Rezende, Silva, Sabrina de Castro, Neme, Thais Helena Paro   +23 more
core  

Spectrum of Primary Hemophagocytic Lymphohistiocytosis‐Associated Gene Mutations in Chinese Patients

MedComm, Volume 7, Issue 9, September 2026.
The locations and types of variants in the most frequently affected genes. ABSTRACT Hemophagocytic lymphohistiocytosis (HLH) is a life‐threatening disease characterized by hyperinflammation. Primary HLH (primary HLH), resulting from genetic mutations, is a subtype of HLH.
Wenshuai Zheng, Shenyu Wang, Zhenlan Du, Lianming Liao, Xiaohong Li, Hongmei Ning   +5 more
wiley   +1 more source

Emergence of inflammatory fibroblasts with aging in Hermansky-Pudlak syndrome associated pulmonary fibrosis. [PDF]

Commun Biol
The longitudinal cellular interactions that drive pulmonary fibrosis are not well understood. To investigate the disease underpinnings associated with fibrosis onset and progression, we generated a scRNA-seq atlas of lungs from young and aged mouse ...
Banaschewski BJH, Michki SN, Sitaraman S, Pan R, Wang JY, Stewart D, Goldy MK, Lin SM, Cantu E, Katzen JB, Basil MC, Emtiazjoo AM, Todd JL, Gokey JJ, Kropski JA, Frank DB, Zepp JA, Young LR.   +17 more
europepmc   +2 more sources

Innate immunity defects in Hermansky-Pudlak type 2 syndrome

, 2006
Adaptor protein-3 (AP-3) is an ubiquitous cytoplasmic complex that shuttles cargo proteins from the trans-Golgi and a tubular-endosomal compartment to endosome- lysosome–related organelles. Lack of the _3A subunit of this complex causes Hermansky-Pudlak
PAROLINI S, GALLO F, DUSI S, Mercenaro E., PAROLINI, Silvia, Badolato R., GRIFFITHS GM, FACCHETTI, Fabio, Ferrari D., MARCENARO, EMANUELA, FONTANA S, Gallo F., Cavadini P., MORETTA, ALESSANDRO, BADOLATO, Raffaele, Booth S., Notarangelo L. D., GENTILI F, MARCENARO E, NOTARANGELO L, Facchetti F., FACCHETTI F, CAVADINI P, VERMI, William, Notarangelo L., Benassi M., CASSATELLA M, BOOTH S, Fontana S., CASSATELLA, Marco Antonio, DUSI, Stefano, Parolini S., Gentili F., NOTARANGELO LD, Griffiths G. M., Vermi W., VERMI W, DONINI M, DONINI, Marta, FERRARI D, MORETTA A, Moretta A., BENASSI M   +42 more
core   +1 more source

Pancreatic Involvement in Hermansky–Pudlak Syndrome- A Case Report [PDF]

, 2019
Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder that presents with oculocutaneous albinism, bleeding disorders, and immunodeficiency. Granulomatous colitis and pulmonary fibrosis are two major complications of this syndrome.
Kumar, Vinesh, Shaukat, Nauman, Khan, Aslam, Iqbal, Aqsa, Shaikh, Safia, Awan, Bilal, Nawaz, Abid   +6 more
core   +1 more source

Severe Postoperative Hemorrhage Following Dental Debridement in a Patient With PSPD

Special Care in Dentistry, Volume 46, Issue 4, July/August 2026.
Abstract Background Platelet Storage Pool Deficiency (PSPD) is a rare qualitative defect involving impaired granule secretion, often presenting with normal routine coagulation profiles. This case highlights the challenges of dental debridement in a young adult with special health care needs where functional platelet failure outweighs numerical counts ...
Dan Burch, Richard Clark, Michael Bianchi   +2 more
wiley   +1 more source

Vitiligo

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 8, Page 968-987, August 2025.
Summary Vitiligo is a common pigment disorder of the skin resulting in destruction of melanocytes. Non‐segmental vitiligo (NSV) is an autoimmune disorder. The etiopathogenesis of segmental vitiligo (SV) remains incompletely understood. Genetic predisposition and increased vulnerability of melanocytes towards stressors lead to a melanocyte‐specific CD8+
Markus Böhm, Adrian Tanew
wiley   +2 more sources

Innate Lymphoid Cells in Tissue Homeostasis and Diseases

MedComm, Volume 7, Issue 5, May 2026.
Innate lymphoid cells (ILCs) are a heterogeneous group of immune cells with phenotypic and functional plasticity. ILCs dynamically regulate various immune cell types and play a crucial role in the pathophysiological processes of specific organs during sepsis. Targeting ILCs is a promising strategy for treating sepsis.
Zhenzhen Zhan, Heyang Sun, Chenning Li, Qianya Hong, Shuainan Zhu, Ying Yu, Hao Zhang, Kefang Guo   +7 more
wiley   +1 more source

A Case of Hermansky–Pudlak Syndrome

Journal of Association of Pulmonologist of Tamil Nadu
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by a triad of oculocutaneous albinism, bleeding diathesis, and lysosomal storage defects. One of the most severe complications of HPS is interstitial lung disease. There
A. Vasudevan, Gayathri Devi Anur Ramakrishnan   +1 more
doaj   +1 more source

Generation of Hermansky–Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs)

Stem Cell Research, 2016
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by deficiencies in lysosome-related organelles such as melanosomes and platelet-dense granules. The disorder is classified into nine different subtypes (HPS1–HPS9) based
Jean Ann Maguire, Lin Lu, Jason A. Mills, Lisa M. Sullivan, Alyssa Gagne, Paul Gadue, Deborah L. French   +6 more
doaj   +1 more source