Long‐read sequencing reveals SVA insertion in AP3B1 causing Hermansky–Pudlak syndrome 2

Naomi Baba; Ahmed Elashy; Oliver Wegehaupt; B Zieger; Melisa Felek; Micol Ferro; Kimberly C Gilmour; Ute Fischer; Arndt Borkhardt; Stephan R. Ehl; David Koppstein; Sujal Ghosh

doi:10.1111/pai.70406

July 1, 2026Pediatric Allergy and ImmunologyOpen Access

Long‐read sequencing reveals SVA insertion in AP3B1 causing Hermansky–Pudlak syndrome 2

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To the Editor, Hermansky-Pudlak syndrome type 2 (HPS2) is an autosomal recessive inborn of immunity (IEI) caused by biallelic variants in AP3B1.It is characterized by oculocutaneous albinism, bleeding diathesis, and congenital neutropenia.Immunologic abnormalities include de-

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Baba et al. (2026) studied this question.

synapsesocial.com/papers/6ac6ec2549523f440b114811 https://doi.org/10.1111/pai.70406

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Long‐read sequencing reveals SVA insertion in AP3B1 causing Hermansky–Pudlak syndrome 2

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Long‐read sequencing reveals SVA insertion in AP3B1 causing Hermansky–Pudlak syndrome 2

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