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Updated: May 30, 2025

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Recurrent Hospitalisation in a Child With Hypopigmented Hair: Inborn Errors of Immunity Emerge

Rajkumar Kundavaram1, Harish Kadiri1, Ujjawal Khurana2

  • 1Pediatrics, All India Institute of Medical Sciences, Bhopal, IND.

Cureus
|January 30, 2025
PubMed

Insights

Griscelli syndrome, a rare genetic disorder, presents with silvery hair and infections. Genetic testing confirmed type 2 Griscelli syndrome in an infant, highlighting the need for early diagnosis and genetic counseling.

Area of Science:

  • Genetics
  • Immunology
  • Pediatrics

Background:

  • Griscelli syndrome is a rare autosomal recessive disorder.
  • It is characterized by pigmentary dilution, recurrent infections, neurological issues, and immunodeficiency.

Keywords:
genetic analysisgriscelli syndromehypopigmented hairinborn errors of immunitypediatrics

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