Clinical and immunological features of four patients with <i>activation‐induced cytidine deaminase</i> deficiency: Renal amyloidosis and other presentations
HIGM-2 is a rare IEI that can be overlooked; hence, patients' diagnosis is delayed. Autoimmune and autoinflammatory manifestations develop later in the disease course leading to significant morbidities. The diagnosis can be suspected after exclusion of CD40/CD40L deficiencies by flow cytometry, and the diagnosis can be confirmed by genetic testing.
Authors
- Rabab El Hawary (ORCID: https://orcid.org/0000-0001-6244-0288)
- Mai Saad (ORCID: https://orcid.org/0009-0000-8497-9655)
- Rania Darwish (ORCID: https://orcid.org/0000-0001-8247-7918)
- Sohilla Lotfy
- Aisha Elmarsafy
- Alia Eldash (ORCID: https://orcid.org/0000-0002-1935-1527)
- Jeannette Boutros
- Melinda Nagy (ORCID: https://orcid.org/0000-0001-7127-3055)
- Safa Meshaal (ORCID: https://orcid.org/0000-0003-0370-3820)
- Dalia Abd Elaziz (ORCID: https://orcid.org/0000-0002-7830-7008)
- Engy Chohayeb
- Aya Erfan (ORCID: https://orcid.org/0000-0003-2732-3996)
- Radwa Alkady
- Nermeen Galal
Institutions
- Cairo University (EG)
Publication Details
- Journal
- Annals of Human Genetics
- Published
- 2024-11-08
- DOI
- https://doi.org/10.1111/ahg.12583
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Science and Technology Development Fund