CD11C and CD123 Dentritic Cell Analysis (DCML Screen)

Immunology

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Description

DCs are BM-derived cells present in lymphoid and nearly all non-lymphoid tissues. Their principal function is the induction and control of immunity [1]. They can arise from both myeloid (CD11c) and plasmacytoid (CD123) progenitors. DCML deficiency (also known as MonoMAC) is a primary immunodeficiency syndrome characterised by monocytopenia, B and NK lymphoid deficiency and an almost complete absence of dendritic cells [1,2,3]. Clinical features include disseminated non-tuberculous mycobacterial infection, opportunistic fungal infections, papilloma virus infection and pulmonary alveolar proteinosis [1]. A mutation in GATA-2 has been found in nearly all cases of DCML deficiency [4]. GATA-2 encodes a transcription factor involved in homeostasis of haematopoietic stem cells, mutation of which may compromise stem cell survival DCML syndrome is primarily adult onset (3rd or 4th decade) due to progressive bone marrow failure and loss of distinct cell lineages [1, 4]. Once established, the disease has multiple manifestations, high morbidity and mortality; however favourable responses to haematopoietic stem cell transplantations have been demonstrated [1, 4]. Other secondary causes of dendritic cell deficiency, include malignancy, and HIV infection.

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Indications

Investigation of dendritic cell, monocyte, B and NK lymphoid deficiency (DCML) syndrome.

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Sample Type

2mL EDTA whole blood. Samples must be urgently transported to the laboratory.
Requests from outside Sheffield: please discuss transport requirements prior to requesting this test.

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Reference Range

CD123+ Dendritic cell normal range is 0.09-0.35% of the total white cell count.
CD11c+ dendritic cell normal range is 0.18-0.45% of the total white cell count.

Reference ranges established by in-house validation.

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Turnaround Time

Within 5 days

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Testing Frequency

Discuss with Immunology prior to requesting this test.

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References

Bigley V, Haniffa M, Doulatov S, et al (2011) The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. Journal of Experimental Medicine. 2011, 208: 227-234. [Ref 1].
Bella S, Gianelli S, et al. Application of six-color flow cytometry for the assessment of dendritic cell responses in whole blood assays. Journal of Immunological Methods. 2008. 339: 153-164. [Ref 2].
BD Biocsciences Immunocytometry systems. (2000) Application Note: Peripheral Blood Dendritic Cells Revealed by Flow Cytometry. 2008. [Online at http://www.bdbioscience.com]. [Ref 3].
Bigley V and Collin M. Dendritic cell, monocyte, B and NK lymphoid deficiency defines the lost lineages of a new GATA-2 dependent myelodysplastic syndrome. Haematologica. 2011, 96(8): 1081-1083. [Ref 4].

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Please note: the above information is subject to change and we endeavour to keep this website up to date wherever necessary.