Research & Literature

BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery.

Dennis MK, Mantegazza AR, Snir OL, et al.

The Journal of cell biology 2015; (209(4)):563-77 doi:10.1083/jcb.201410026.

Lysosomal Trafficking Regulator (LYST).

Ji X, Chang B, Naggert JK, Nishina PM

Advances in experimental medicine and biology 2016; (854()):745-50 doi:10.1007/978-3-319-17121-0_99.

The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome.

Christensen S, Wagner L, Coleman MM, Appell D

Chronic illness 2017; (13(1)):62-72 doi:10.1177/1742395316655854.

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.

Vicary GW, Vergne Y, Santiago-Cornier A, et al.

Annals of the American Thoracic Society 2016; (13(10)):1839-1846 doi:10.1513/AnnalsATS.201603-186FR.

Hermansky-Pudlak syndrome in pregnancy: A case report.

Yusuf L, Dukka S, Ciantar E

Obstetric medicine 2016; (9(4)):171-173 doi:10.1177/1753495X16662580.

Management of Hermansky-Pudlak syndrome in pregnancy and review of literature.

Van Avermaete F, Muys J, Jacquemyn Y

BMJ case reports 2016; (2016()) doi:10.1136/bcr-2016-217719.

Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype.

Sofia MA, Sakuraba A, Rubin DT

ACG case reports journal 2017; (4()):e14 doi:10.14309/crj.2017.14.

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Bryan MM, Tolman NJ, Simon KL, et al.

Molecular genetics and metabolism 2017; (120(4)):378-383 doi:10.1016/j.ymgme.2017.02.007.

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

Michaud V, Lasseaux E, Plaisant C, et al.

Pigment cell & melanoma research 2017; (30(6)):563-570 doi:10.1111/pcmr.12608.

Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.

Okamura K, Abe Y, Araki Y, et al.

Pigment cell & melanoma research 2018; (31(2)):267-276 doi:10.1111/pcmr.12662.

Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation.

El-Chemaly S, O'Brien KJ, Nathan SD, et al.

PloS one 2018; (13(3)):e0194193 doi:10.1371/journal.pone.0194193.

Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.

Hengst M, Naehrlich L, Mahavadi P, et al.

Orphanet journal of rare diseases 2018; (13(1)):42 doi:10.1186/s13023-018-0780-z.

Sorting machineries: how platelet-dense granules differ from α-granules.

Chen Y, Yuan Y, Li W

Bioscience reports 2018; (38(5)) doi:10.1042/BSR20180458.

Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.

Wei A, Yuan Y, Qi Z, et al.

Pigment cell & melanoma research 2019; (32(3)):373-380 doi:10.1111/pcmr.12748.

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.

Mohammed M, Al-Hashmi N, Al-Rashdi S, et al.

European journal of medical genetics 2019; (62(11)):103583 doi:10.1016/j.ejmg.2018.11.017.

Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells.

Karampini E, Schillemans M, Hofman M, et al.

Haematologica 2019; (104(10)):2091-2099 doi:10.3324/haematol.2018.207787.

Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report.

Ishihara J, Mizuochi T, Uchida T, et al.

BMC gastroenterology 2019; (19(1)):9 doi:10.1186/s12876-019-0929-9.

Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series.

Rivera-Concepción J, Acevedo-Canabal J, Burés A, et al.

European journal of haematology 2019; (102(5)):432-436 doi:10.1111/ejh.13210.

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Power B, Ferreira CR, Chen D, et al.

Orphanet journal of rare diseases 2019; (14(1)):52 doi:10.1186/s13023-019-1023-7.

Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report.

Girot P, Le Berre C, De Maissin A, et al.

World journal of gastroenterology 2019; (25(8)):1031-1036 doi:10.3748/wjg.v25.i8.1031.

Coexistence of Hermansky-Pudlak syndrome and JAK2V617F-positive essential thrombocythemia.

Eskazan T, Erturkuner SP, Isildar B, et al.

Ultrastructural pathology 2019; (43(1)):94-98 doi:10.1080/01913123.2019.1593269.

Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.

Bastida JM, Morais S, Palma-Barqueros V, et al.

Annals of medicine 2019; (51(2)):141-148 doi:10.1080/07853890.2019.1587498.

Hermansky-Pudlak syndrome with interstitial lung disease: A holistically worked up couplet.

Gupta A, Utpat K, Desai U, Joshi JM

Lung India : official organ of Indian Chest Society 2019; (36(4)):345-348 doi:10.4103/lungindia.lungindia_258_18.

A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.

Wu W, Lin K, Yang Y, et al.

Medicine 2019; (98(33)):e16899 doi:10.1097/MD.0000000000016899.

Treatment of Hermansky-Pudlak syndrome Associated granulomatous colitis with anti-TNF agents: case series and review of literature.

Demirtas CO, Alahdab YO, Kani HT, et al.

European journal of gastroenterology & hepatology 2019; (31(12)):1597-1600 doi:10.1097/MEG.0000000000001510.

Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2.

Nishikawa T, Okamura K, Moriyama M, et al.

The Journal of dermatology 2020; (47(2)):185-189 doi:10.1111/1346-8138.15177.

Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3.

Lecchi A, La Marca S, Femia EA, et al.

Platelets 2020; (31(7)):960-963 doi:10.1080/09537104.2019.1704716.

Hermansky-Pudlak syndrome: Mutation update.

Huizing M, Malicdan MCV, Wang JA, et al.

Human mutation 2020; (41(3)):543-580 doi:10.1002/humu.23968.

Hermansky-Pudlak Syndrome.

De Jesus Rojas W, Young LR

Seminars in respiratory and critical care medicine 2020; (41(2)):238-246 doi:10.1055/s-0040-1708088.

Genetic variants associated with Hermansky-Pudlak syndrome.

Merideth MA, Introne WJ, Wang JA, et al.

Platelets 2020; (31(4)):544-547 doi:10.1080/09537104.2019.1663810.

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.

Pennamen P, Tingaud-Sequeira A, Michaud V, et al.

Pigment cell & melanoma research 2021; (34(1)):132-135 doi:10.1111/pcmr.12915.

Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.

Liu T, Yuan Y, Bai D, et al.

Pigment cell & melanoma research 2021; (34(1)):111-121 doi:10.1111/pcmr.12916.

Platelet δ-Storage Pool Disease: An Update.

Dupuis A, Bordet JC, Eckly A, Gachet C

Journal of clinical medicine 2020; (9(8)) doi:10.3390/jcm9082508.

Hermansky-Pudlak syndrome-associated pneumothorax with rapid progression of respiratory failure: a case report.

Kato Y, Kato M, Ihara H, et al.

BMC pulmonary medicine 2020; (20(1)):259 doi:10.1186/s12890-020-01302-8.

Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study.

O'Brien KJ, Parisi X, Shelman NR, et al.

Journal of internal medicine 2021; (290(1)):129-140 doi:10.1111/joim.13224.

The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.

Obeng-Tuudah D, Hussein BA, Hakim A, et al.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2021; (154(3)):412-426 doi:10.1002/ijgo.13632.

Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.

Yokoyama T, Gochuico BR

European respiratory review : an official journal of the European Respiratory Society 2021; (30(159)) doi:10.1183/16000617.0193-2020.

Platelet life without TMEM163: no dense granules.

Mammadova-Bach E, Braun A

Blood 2021; (137(13)):1708-1709 doi:10.1182/blood.2021010691.

Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics.

Velázquez-Díaz P, Nakajima E, Sorkhdini P, et al.

Frontiers in pharmacology 2021; (12()):644671 doi:10.3389/fphar.2021.644671.

Hermansky-Pudlak Syndrome: A Rare Cause of Post-polypectomy Bleeding.

Baiomi A, Abbas H, Dev A

Cureus 2021; (13(3)):e13781 doi:10.7759/cureus.13781.

A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption.

Zhong Z, Wu Z, Zhang J, Chen J

Pigment cell & melanoma research 2021; (34(6)):1112-1119 doi:10.1111/pcmr.12995.

A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.

Lansdon LA, Chen D, Rush ET, et al.

Cold Spring Harbor molecular case studies 2021; (7(5)) doi:10.1101/mcs.a006110.

A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.

Boeckelmann D, Wolter M, Käsmann-Kellner B, et al.

Cells 2021; (10(10)) doi:10.3390/cells10102630.

Recurrent perianal abscess in a patient with Hermansky-Pudlak syndrome-associated granulomatous colitis: a case report.

Omak A, Uprak TK, Attaallah W

Annals of coloproctology 2024; (40(Suppl 1)):S11-S14 doi:10.3393/ac.2021.00437.0062.

New insights into the pathogenesis of Hermansky-Pudlak syndrome.

Li W, Hao CJ, Hao ZH, et al.

Pigment cell & melanoma research 2022; (35(3)):290-302 doi:10.1111/pcmr.13030.

Lung Transplantation for Pulmonary Fibrosis Associated With Hermansky-Pudlak Syndrome. A Single-center Experience.

Benvenuto L, Qayum S, Kim H, et al.

Transplantation direct 2022; (8(4)):e1303 doi:10.1097/TXD.0000000000001303.

Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome.

Chen C, Wang R, Yuan Y, et al.

Genes 2022; (13(7)) doi:10.3390/genes13071283.

Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3.

Santos Malave G, Izquierdo NJ, Sanchez NP

Orphanet journal of rare diseases 2022; (17(1)):305 doi:10.1186/s13023-022-02464-w.

Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.

Marek-Yagel D, Abudi-Sinreich S, Macarov M, et al.

Frontiers in genetics 2022; (13()):936064 doi:10.3389/fgene.2022.936064.

Hermansky-Pudlak Syndrome: Spectrum in Oman.

Nazir HF, Al Sukaiti N, Khater D, et al.

Journal of pediatric hematology/oncology 2023; (45(3)):e389-e394 doi:10.1097/MPH.0000000000002552.

Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.

Arcot Sadagopan K, Teng CH, Hui G, Lin DL

Ophthalmic genetics 2023; (44(1)):54-69 doi:10.1080/13816810.2022.2135109.

Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression.

Bhattad S, Libre M, Choi JM, et al.

European journal of medical genetics 2023; (66(7)):104786 doi:10.1016/j.ejmg.2023.104786.

Chediak-Higashi syndrome.

Talbert ML, Malicdan MCV, Introne WJ

Current opinion in hematology 2023; (30(4)):144-151 doi:10.1097/MOH.0000000000000766.

Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.

Parisi X, Bledsoe JR

Journal of clinical pathology 2024; (77(9)):586-604 doi:10.1136/jcp-2022-208686.

After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.

Serrano-González J, Montes-Rodríguez I, Renta JY, et al.

Molecular genetics & genomic medicine 2024; (12(7)):e2493 doi:10.1002/mgg3.2493.

Impairment of Renal Function in Hermansky-Pudlak Syndrome.

Yokoyama T, O'Brien KJ, Franklin TM, et al.

American journal of nephrology 2025; (56(1)):25-34 doi:10.1159/000541835.

Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear.

Tajik S, Fazlollahi MR, Alizadeh Z, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2024; (35(11)):e14264 doi:10.1111/pai.14264.

Granulomatous Colitis Due to Hermansky-Pudlak Syndrome.

Koulali H, Azzmouri S, Tajir M, et al.

ACG case reports journal 2024; (11(11)):e01477 doi:10.14309/crj.0000000000001477.

Cryo-EM structure of the BLOC-3 complex provides insights into the pathogenesis of Hermansky-Pudlak syndrome.

Yong X, Jia G, Yang Q, et al.

Nature communications 2025; (16(1)):2967 doi:10.1038/s41467-025-58235-1.

Differences in Visual Acuity Among Hermansky-Pudlak Syndrome Subtypes.

Jiménez-Berríos GA, Vázquez-Folch SJ, Izquierdo N

Cureus 2025; (17(5)):e83729 doi:10.7759/cureus.83729.

Griscelli Syndrome: A Case Report from Pakistan, A Review of the Literature, and an Approach to Hematological Disorders Associated With Albinism.

Afzal M, Ashraf S, Humayun L, et al.

Cureus 2025; (17(6)):e86445 doi:10.7759/cureus.86445.

Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation.

Balaraddi V, Nawlakhe K, K S, Bandiya P

Oxford medical case reports 2025; (2025(9)):omaf184 doi:10.1093/omcr/omaf184.

Hermansky-Pudlak Syndrome.

Wang JY, Young LR

Clinics in chest medicine 2025; (46(4)):701-710 doi:10.1016/j.ccm.2025.07.009.

Oculo-Cutaneous and syndromic albinisms: Epidemiology, clinical spectrum and diagnosis.

Moreno-Artero E, Mashiah J

Presse medicale (Paris, France : 1983) 2026; (55(3)):104344 doi:10.1016/j.lpm.2026.104344.

Case Report: Hermansky-Pudlak syndrome type 1 with pulmonary involvement in a 62-year-old Caucasian woman with rheumatoid arthritis.

Giulianelli G, Bernardinello N, Cocconcelli E, et al.

Frontiers in immunology 2026; (17()):1778211 doi:10.3389/fimmu.2026.1778211.

Assessment of patient-reported symptoms in Hermansky-Pudlak syndrome.

Zuo MXG, Zuo BLG, O'Brien KJ, et al.

Molecular genetics and metabolism 2026; (148(3)):110142 doi:10.1016/j.ymgme.2026.110142.

Anaesthetic Management of Hermansky-Pudlak Syndrome with Major Hemorrhage: Based on a Case Report.

Akbulut A, Yaylak D, Sincer Y, Gürkan Y

Turkish journal of anaesthesiology and reanimation 2026; (54(3)):221-224 doi:10.4274/TJAR.2026.252131.

Early Genotype-Driven Diagnosis of Hermansky-Pudlak Syndrome Type 4 in a Child With Oculocutaneous Albinism: An Ophthalmic Case Report.

Szabo D, Waldispühl-Geigl J, Kamper S, et al.

Cureus 2026; (18(8)):e114112 doi:10.7759/cureus.114112.