Recurrent Infections and Refractory Lymphoproliferation Associated With a Novel PRKCD Variant: A Case Report of Successful Haematopoietic Stem Cell Transplantation.

Authors

Büşra Koçali, Saliha Esenboğa, Elif Soyak Aytekin, İsmail Yaz, Ayşe Demirçubuk, Ekrem Ünal, Deniz Çağdaş

Published in

Scandinavian journal of immunology. Volume 104. Issue 4. Pages e70152.

Abstract

Lymphoproliferation is a common manifestation of inborn errors of immunity and may delay diagnosis when it is the initial presentation. A nine-year-old girl developed recurrent lymphadenopathy from two years of age, accompanied by recurrent infections, anaemia and growth retardation. Whole-exome sequencing identified a homozygous PRKCD missense variant. Lymph node biopsy revealed florid follicular hyperplasia with cytomegalovirus (CMV) activation, and CMV viremia was detected. Despite immunoglobulin replacement, valganciclovir and immunomodulatory therapy, lymphoproliferation persisted. Haematopoietic stem cell transplantation was successfully performed, highlighting the importance of early genetic diagnosis and timely curative treatment in these patients.

PMID:
42860859
Bibliographic data and abstract were imported from PubMed on 12 Oct 2026.

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