in: Pediatric Immunology, A case-based collection with MCQs, vol II, Nima Rezaei, Editor, Springer, London/Berlin , Chur, pp.333-339, 2019
A 3-month-old girl was referred to our hospital with a suspicion of Langerhans cell
histiocytosis. She was hospitalized for pneumonia at the 15th day of birth followed
by recurrent and treatment resistant cervical lymphadenopathies with high CRP levels.
She was the first child of a consanguineous family. She had bilateral cervical
lymphadenopathies and maculopapular skin eruptions over body and legs on admission.
Laboratory investigations revealed anemia, leukocytosis, high CRP level
(12 mg/dL), and hypergammaglobulinemia. Histological findings of the skin biopsy
and lymph node excision were reported as granulomatous inflammation and necrotizing
granulomatous lymphadenitis, respectively. Meanwhile, oxidative burst
activity (“Phagoburst” kit, Glycotope, Biotechnology) was insufficient leading to a
probable diagnosis of chronic granulomatous disease (CGD) later confirmed with
mutation analysis disclosing a “homozygous autosomal recessive c.369+1G>A
mutation” in CYBA gene - p22phox. Flow cytometry is currently the method used to
validate the oxidative capacity of neutrophils