Clinical and laboratory observationHermansky-Pudlak syndrome with granulomatous colitis in children
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Hermansky-Pudlak syndrome with granulomatous colitis
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Cited by (54)
A novel nonsense mutation in a patient with Hermansky-Pudlak syndrome type 4
2018, Blood Cells, Molecules, and DiseasesCitation Excerpt :The clinical presentation varies from mild to major bleeding symptoms including easy bruising, petechiae, epistaxis and prolonged bleeding after surgery or trauma requiring red blood cell transfusions in some cases [10,11]. Ceroid lipofuscin, an incompletely characterized lipid-protein complex, is thought to accumulate in cellular lysosomes and may cause pulmonary fibrosis [12–16], granulomatous colitis [17,18] and renal dysfunction in some patients [6]. Especially, patients with HPS1, HPS2, or HPS4 are predisposed to interstitial lung disease.
Novel mutation in two brothers with Hermansky Pudlak syndrome type 3
2017, Blood Cells, Molecules, and DiseasesCitation Excerpt :The clinical presentation varies from mild to major bleeding symptoms including easy bruising, petechiae, epistaxis, and prolonged bleeding after surgery or trauma requiring transfusions in some cases [9,10]. Ceroid lipofuscin, an incompletely characterized lipid-protein complex, is thought to accumulate in cellular lysosomes and may cause pulmonary fibrosis [11,12], granulomatous colitis [13,14] and cardiomyopathy [15] in some patients. Neutropenia and susceptibility to recurrent infections were observed in HPS2 and HPS10 patients so far [16–18].
The diagnostic approach to monogenic very early onset inflammatory bowel disease
2014, GastroenterologyCitation Excerpt :These multidimensional mechanisms of secondary immune dysregulation indicate the functional complexity of some seemingly unrelated genetic immune defects and the broad effects they might have on the innate immune system. VEOIBD has been described in a number of hyperinflammatory and autoinflammatory disorders such as mevalonate kinase deficiency,54,55 phospholipase C-γ2 defects,56 familial Mediterranean fever,57–59 Hermansky–Pudlak syndrome (type 1, 4, and 6),60–64 X-linked lymphoproliferative syndrome type 165 and type 2,66–68 or familial hemophagocytic lymphohistiocytosis type 5.69 Among these, mevalonate kinase deficiency is a prototypic autoinflammatory disorder, characterized by increased activation of caspase-1 and subsequent activation of IL-1β.70
Inflammatory Bowel Disease
2013, Emery and Rimoin's Principles and Practice of Medical GeneticsHurwitz Clinical Pediatric Dermatology, Fouth Edition
2011, Hurwitz Clinical Pediatric Dermatology, Fouth EditionTargeting Chitinase 1 and Chitinase 3-Like 1 as Novel Therapeutic Strategy of Pulmonary Fibrosis
2022, Frontiers in Pharmacology
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Now at Long Island Jewish Hospital-Hillside Medical Center, New Hyde Park, N.Y.