{
  "abstract": "ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome is a rare multisystem autoinflammatory disorder caused by heterozygous gain-of-function mutations in ALPK1. Initially characterised by these features, its clinical spectrum extends beyond the acronym. We report the first genetically confirmed case in Latin America. The proband, in her mid-20s, presented with progressive retinal dystrophy leading to vision loss, xerostomia, short dental roots, recurrent low-grade fevers and elevated C-reactive protein. Notably, she lacked splenomegaly and anhidrosis; instead, mild hypohidrosis was identified retrospectively following genetic confirmation of the ALPK1 p.Thr237Met variant. Her mother, carrying the same variant, exhibited blindness from advanced retinal degeneration, severe arthritis, recurrent fevers, hypohidrosis and inability to lactate. This family illustrates the variable expressivity of ROSAH syndrome and underscores that absence of classic features should not exclude the diagnosis. Early recognition and genetic testing are essential, as timely initiation of immunomodulatory therapy may mitigate the risk of loss of vision.",
  "authors": [
    {
      "affiliations": [
        "School of Medicine, Universidade Franciscana, Santa Maria, Rio Grande do Sul, Brazil"
      ],
      "name": "Luiza De Gregori Dutra"
    },
    {
      "affiliations": [
        "School of Medicine, Universidade Franciscana, Santa Maria, Rio Grande do Sul, Brazil"
      ],
      "name": "Gisandra de Fátima Stangherlin"
    },
    {
      "affiliations": [
        "School of Medicine, Universidade Franciscana, Santa Maria, Rio Grande do Sul, Brazil"
      ],
      "name": "Heloísa Chiarini"
    },
    {
      "affiliations": [
        "School of Medicine, Universidade Franciscana, Santa Maria, Rio Grande do Sul, Brazil"
      ],
      "name": "Natalia Alini Haubenthal"
    },
    {
      "affiliations": [
        "School of Medicine, State University of Londrina, Londrina, Parana, Brazil"
      ],
      "name": "Maria Luiza Vargas"
    },
    {
      "affiliations": [
        "National Eye Institute, Bethesda, Maryland, USA"
      ],
      "name": "Laryssa Huryn"
    },
    {
      "affiliations": [
        "National Eye Institute, Bethesda, Maryland, USA"
      ],
      "name": "Wadih M Zein"
    },
    {
      "affiliations": [
        "School of Medicine, Universidade Franciscana, Santa Maria, Rio Grande do Sul, Brazil"
      ],
      "name": "Kelly de Oliveira Harada"
    },
    {
      "affiliations": [
        "School of Medicine, Universidade Franciscana, Santa Maria, Rio Grande do Sul, Brazil"
      ],
      "name": "Liliani Mathias Brum"
    },
    {
      "affiliations": [
        "Innate Immune Activation Unit, National Institute of Allergy and Infectious Diseases Laboratory of Clinical Immunology and Microbiology, Bethesda, Maryland, USA"
      ],
      "name": "Christina Torres Kozycki"
    }
  ],
  "title": "ROSAH syndrome lacking splenomegaly and complete anhidrosis",
  "uid": "956c3b2b-b6a8-59bc-bd88-e044a1ea25a2"
}