Hermansky-Pudlak Syndrome With Neutropenia

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

AP3B1, AP3D1, TFF1, BHLHE22, GOLPH3

Drugs

Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, Recombinant human anti-interferon gamma monoclonal antibody ( GAMIFANT ), haematopoietic stem cells and blood progenitors umbilical cord-derived expanded with (1R, 4R)-N1-(2-benzyl-7-(2-methyl-2H-tetrazol-5-yl)-9H-pyrimido[4,5-b]indol-4-yl)cyclohexane-1,4-diamine dihydrobromide dihydrate

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Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

Epidemiology

To date HPS-2 has been described in eight patients.

Clinical description

HPS-2 presents with features of HPS including oculocutaneous albinisim, reduced visual acuity, horizontal nystagmus, easy bruising of soft tissues, epistaxis, and prolonged bleeding after dental extraction, surgery or childbirth. Women may present with medically significant menstrual bleeding. In addition, HPS-2 patients present with recurrent infections due to neutropenia and impaired cytotoxic activity. Recently, pulmonary fibrosis has been described in some HPS-2 cases.

Etiology

HPS-2 is caused by mutations in the AP3B1 gene (5q14.1) and is transmitted in an autosomal recessive manner. The gene product is the Beta 3A subunit of adaptor protein 3 (AP3), involved in vesicle formation and protein sorting.

Management and treatment

The neutropenia is responsive to granulocyte-cell stimulating factor (G-CSF).