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Itchy E3 Ubiquitin Protein Ligase (ITCH) deficiency is a rare genetic disorder causing immune problems and autoimmunity. This case highlights a patient with a specific ITCH gene variant presenting with severe developmental, metabolic, and organ-specific issues.

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Area of Science:

  • Genetics
  • Immunology
  • Pediatrics

Background:

  • Itchy E3 Ubiquitin Protein Ligase (ITCH) deficiency is an extremely rare autosomal recessive disorder.
  • It results from ITCH gene alterations, leading to immunodeficiency and systemic autoimmunity.
  • Clinical manifestations can be severe and multi-systemic.

Purpose of the Study:

  • To report a case of ITCH deficiency in a pediatric patient.
  • To describe the clinical presentation and genetic findings.
  • To emphasize the importance of considering this rare condition in differential diagnoses.

Main Methods:

  • Case report of a 12-year-old girl.
  • Clinical examination and laboratory analysis including lymphocyte subpopulations.
  • Genetic testing for ITCH gene variants.
  • Imaging studies (chest CT scan).

Main Results:

  • The patient presented with chronic malnutrition, short stature, dysmorphic features, global developmental delay, and intellectual disability.
  • She exhibited chronic lung damage, exocrine pancreatic insufficiency, immune-mediated diabetes mellitus, hypothyroidism, and hypoparathyroidism.
  • Genetic testing identified a homozygous splice donor variant (c.1569+1G>T) in the ITCH gene.

Conclusions:

  • ITCH deficiency, even with rare variants like c.1569+1G>T, can lead to severe multi-systemic complications.
  • Early recognition and consideration of ITCH deficiency are crucial for managing patients with combined immunodeficiency and autoimmunity.
  • This case underscores the potentially life-threatening nature of ITCH deficiency.