{
  "abstract": "An early adolescent male with Shashi-Pena syndrome (SPS), characterised by a novel heterozygous pathogenic variant (p.Ser627Phefs*22) in the ASXL2 gene, presented with a spectrum of manifestations. These encompassed intellectual disability, severe scoliosis, unique facial dysmorphisms, congenital heart disease, recurrent infections and autoimmune cytopenia. Distinctively, this case revealed late-onset hypogammaglobulinaemia and autoimmune cytopenia, which had not been previously documented in SPS. To our knowledge, this is the first report clinically delineating immune system involvement in a patient with SPS, thereby accentuating the significance of evaluating for immunodeficiency in the presence of Additional Sex Combs-Like (ASXL) gene anomalies, particularly against a backdrop of recurrent infections and autoimmune presentations. The implications of this case encourage further investigation into the incidence and underlying mechanisms of immune dysregulation in ASXL-related syndromes, aiming to enrich the clinical understanding and enhance the therapeutic approaches for these complex conditions.",
  "authors": [
    {
      "affiliations": [
        "Division of Immunology and Allergy, Department of Paediatrics, McGill University Health Centre, Montreal Children’s Hospital, Montreal, Quebec, Canada",
        "Department of Pediatrics, College of Medicine and Health Sciences, University, Al Ain, UAE"
      ],
      "name": "Adnan Al Ali"
    },
    {
      "affiliations": [
        "Department of pediatrics, King Abdulaziz University Hospital, Jeddah, Saudi Arabia"
      ],
      "name": "Ashwag Saidalani"
    },
    {
      "affiliations": [
        "Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Montreal Children’s Hospital, Montreal, Quebec, Canada"
      ],
      "name": "Mehdi Yeganeh"
    },
    {
      "affiliations": [
        "Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Montreal Children’s Hospital, Montreal, Quebec, Canada"
      ],
      "name": "Laura Russell"
    },
    {
      "affiliations": [
        "Division of Immunology and Allergy, Department of Paediatrics, McGill University Health Centre, Montreal Children’s Hospital, Montreal, Quebec, Canada"
      ],
      "name": "Reza Alizadehfar"
    },
    {
      "affiliations": [
        "Division of Immunology and Allergy, Department of Paediatrics, McGill University Health Centre, Montreal Children’s Hospital, Montreal, Quebec, Canada"
      ],
      "name": "Francisco Noya"
    },
    {
      "affiliations": [
        "Division of Paediatric Allergy and Clinical Immunology, Department of Paediatrics, Montreal Children’s Hospital, Montreal, Quebec, Canada"
      ],
      "name": "Christine McCusker"
    },
    {
      "affiliations": [
        "Division of Immunology and Allergy, Department of Paediatrics, McGill University Health Centre, Montreal Children’s Hospital, Montreal, Quebec, Canada"
      ],
      "name": "Bruce Mazer"
    }
  ],
  "title": "Shashi-Pena syndrome with late-onset specific hypogammaglobinaemia and autoimmune cytopenia",
  "uid": "a77494f4-ff24-5892-af27-91a3c19306ee"
}