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Article

Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.

Journal of clinical immunology - 1 Feb 2020

Zhong Linqing, Wang Jun, Wang Wei, Wang Lin, Quan Meiying, Tang Xiaoyan, Gou Lijuan, Wei Min, Xiao Juan, Zhang Tiannan, Sui Ruifang, Zhou Qing, Song Hongmei

Abstract excerpt

ROSAH syndrome was recently identified as an autosomal dominant systemic disorder due to mutations in ALPK1. It was characterized by retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache. We collected and summarized the clinical data of two patients with juvenile onset splenomegaly and oculopathy. Whole exome sequencing (WES) was adapted for genetic analysis. Mutations in ALPK1...

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Identifiers

PMID: 31939038
DOI: 10.1007/s10875-020-00741-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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