Primary Immunodeficiency (PID) Panel

Immunology

---

Description

The primary immunodeficiency panel is a series of tests designed to investigate different elements of the immune system. If a defect is found it can aid in the diagnosis of the specific primary immunodeficiency [3,4,6]. Lymphocyte subsets are measured to assess the absolute numbers of the main subsets (T cells, B cells and NK cells), which can be reduced in a variety of primary immunodeficiencies [3,4,5,6]. HLA class I deficiency is associated with TAP2 gene mutations and cause faulty intracellular assembly of the MHC complex. HLA class II deficiency leads to low levels of immunoglobulins, as B cells are present but do not express HLA class II [1,3,6] . Lack of CD18 is seen in leucocyte adhesion deficiency (LAD). LAD prevents recruitment of leucocytes to peripheral sites of inflammation. CD18 forms part of the beta chain of several adhesion molecules on the cell surface [1,3]. A large population of T cell receptors (TCR) alpha-beta expressing CD4/CD8 negative cells may exist in autoimmune lymphoproliferative syndrome (ALPS) [1,2]. Increased populations of TCR gamma-delta are seen in SCID with RAG1 deficiency [1,5].

---

Indications

Primary immunodeficiencies.

---

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.

---

Reference Range

See report.Reference ranges established by in-house validation

---

Turnaround Time

Within 3 days

---

Testing Frequency

Discuss with Immunology prior to requesting test.

---

References

Notarangelo LD, et al. Primary Immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009. 124(6):1161-1178. [Ref 1]Magerus-Chatinet A, et al. FAS-L, IL-10 and double negative CD4- CD8- TCR alpha/beta T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function. Blood. 2009. 113(13):3027-3030. [Ref 2]Janeway C, Travers T and Walport M. Immunobiology: The immune system. 7th Edition. 2008. [Ref 3]Lim MS and Elenitoba-Johnson KSJ. The molecular pathology of primary immunodeficiencies. J. Molec. Diagnost. 2004. 6(2):59-83. [Ref 4]Ballow M. Primary immunodeficiencies: Antibody deficiencies. Curr. Rev. Allergy Clin. Immunol. 2002. 109. 581-591. [Ref 5]Barnett D, et al [CD4+ T lymphocyte working party]. Guidelines for the enumeration CD4+ T lymphocytes in immunosuppressed individuals. Clin. Lab. Haem. 1997. 19:231-241. [Ref 6]

---

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