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Homozygous DIAPH1 Deficiency Without Cortical Blindness Presenting with EBV-Associated Hodgkin Lymphoma
Ali Özlem1, Seda Şirin1,2, Kezban İpek Demir1
1Pediatric Allergy and Immunology Clinic, Ankara Etlik City Hospital, Ankara, Türkiye.
Pediatric Allergy, Immunology, and Pulmonology
|July 10, 2026
Summary
Homozygous diaphanous-related formin 1 (DIAPH1) deficiency presents a varied clinical picture, sometimes without cortical blindness. This case highlights DIAPH1 deficiency
Area of Science:
- Genetics
- Immunology
- Cell Biology
Background:
- Diaphanous-related formin 1 (DIAPH1) is a cytoskeletal protein.
- Loss-of-function variants in DIAPH1 are linked to seizures, blindness, and immunodeficiency.
- This report details a unique case of DIAPH1 deficiency without cortical blindness.
Purpose of the Study:
- To describe a rare case of homozygous DIAPH1 deficiency.
- To investigate the clinical and immunological features of this deficiency.
- To emphasize the phenotypic variability and potential complications of DIAPH1 deficiency.
Main Methods:
- Clinical case presentation and examination.
- Immunological evaluation including cell counts and vaccine responses.
- Next-generation sequencing for genetic variant identification.
Main Results:
- An 11-year-old male presented with bronchiectasis and immunodeficiency.
- Genetic analysis revealed a homozygous nonsense variant in DIAPH1.
- The patient developed Epstein-Barr virus-associated Hodgkin lymphoma.
Conclusions:
- This is the first reported case of DIAPH1 deficiency without cortical blindness.
- Homozygous DIAPH1 deficiency exhibits significant phenotypic variability.
- Increased susceptibility to EBV infection and associated malignancies is noted, necessitating comprehensive immunological assessment and long-term follow-up.
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