Details

Autor(en) / Beteiligte

• Al-Jaberi, Fatima A. H.
• Crone, Cornelia Geisler
• Lindenstrøm, Thomas
• Arildsen, Nicolai Skovbjerg
• Lindeløv, Emilia Sæderup
• Aagaard, Louise
• Gravesen, Eva
• Mortensen, Rasmus
• Andersen, Aase Bengaard
• Olgaard, Klaus
• Hjaltelin, Jessica Xin
• Brunak, Søren
• Bonefeld, Charlotte Menné
• Kongsbak-Wismann, Martin
• Geisler, Carsten

Titel

Reduced vitamin D-induced cathelicidin production and killing of Mycobacterium tuberculosis in macrophages from a patient with a non-functional vitamin D receptor: A case report

Ist Teil von

• Frontiers in immunology, 2022-11, Vol.13

Ort / Verlag

Frontiers Media S.A

Erscheinungsjahr

2022

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• Tuberculosis (TB) presents a serious health problem with approximately a quarter of the world’s population infected with Mycobacterium tuberculosis ( M. tuberculosis ) in an asymptomatic latent state of which 5–10% develops active TB at some point in their lives. The antimicrobial protein cathelicidin has broad antimicrobial activity towards viruses and bacteria including M. tuberculosis . Vitamin D increases the expression of cathelicidin in many cell types including macrophages, and it has been suggested that the vitamin D-mediated antimicrobial activity against M. tuberculosis is dependent on the induction of cathelicidin. However, unraveling the immunoregulatory effects of vitamin D in humans is hampered by the lack of suitable experimental models. We have previously described a family in which members suffer from hereditary vitamin D-resistant rickets (HVDRR). The family carry a mutation in the DNA-binding domain of the vitamin D receptor (VDR). This mutation leads to a non-functional VDR, meaning that vitamin D cannot exert its effect in family members homozygous for the mutation. Studies of HVDRR patients open unique possibilities to gain insight in the immunoregulatory roles of vitamin D in humans. Here we describe the impaired ability of macrophages to produce cathelicidin in a HVDRR patient, who in her adolescence suffered from extrapulmonary TB. The present case is a rare experiment of nature, which illustrates the importance of vitamin D in the pathophysiology of combating M. tuberculosis .