Immunology Exam: Analysis of Complement Deficiency Disorder Case Study

This assignment provides an analysis of complement deficiency disorder, a condition where the complement system's proteins have suboptimal functionality. The paper examines the role of the complement system, comprising 30 proteins in blood and tissues, and its link to bacterial infections and autoimmune diseases. A case study involving a 17-year-old patient with swelling, abdominal pain, and vomiting is presented. The analysis highlights the significance of C1 esterase inhibitor deficiency, which can cause recurrent angioedema and gastrointestinal issues, leading to Hereditary Angioedema (HAE). The paper further discusses the diagnosis of HAE based on C1 esterase inhibitor levels and differentiates between HAE Type 1 and Type 2. References from various medical journals and patent applications are included to support the analysis.

IMMUNOLOGY EXAM – SECTION B
IMMUNOLOGY EXAM – SECTION B
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IMMUNOLOGY EXAM – SECTION B

IMMUNOLOGY EXAM – SECTION B
Understanding Complement Deficiency Disorder
The complement deficiency is considered to be the immunodeficiency wherein the
suboptimal functionality pertaining to the complement system for proteins is absent. There
pertain redundancies with respect to the immune system and the diagnosis for complement
deficiency cannot be done easily (Allenspach & Torgerson, 2018, pp. 61; Lui et al., 2016; pp.
923) . The complement system encompasses the 30 proteins which are present in tissues
along with the blood. The proteins tend to be anchored on the different cell surfaces too. The
functionality linked to the complement system is associated with the cell surface. The
deficiencies linked to complement deficiencies include the bacterial infections of serious
nature (Allenspach & Torgerson, 2018, pp. 61; Lui et al., 2016; pp. 923). The Auto-Immune
Disease along with the episodes pertaining to swelling under the skin along with the swelling
taking the place of the intestines is significant as part of the disorder.
Case Study With Critique
The case study with the 17-year-old patient has the swelling which is painless. The swelling
is in the left hand of the patient Angel. The area on examination reveals it is not tender. The
complication arising due to the complement deficiency disorder prevalent in case of Angel
further made the case worse while she was being admitted in the Emergency Department.
The cramping abdominal pain along with anorexia and vomiting were observed as the
complications arising due to the complement deficiency disorder in case of the patient
(Allenspach & Torgerson, 2018, pp. 61; Lui et al., 2016; pp. 923). The swelling of the
intestines is a symptom which develops and further complicates aggravating the condition as

IMMUNOLOGY EXAM – SECTION B
part of the complement deficiency disorder. The inflammation as that is prevalent in the case
of Angel is linked to the complement deficiency disorder.
The C1 esterase inhibitor deficiency plays a crucial role in the deficiency of the disorder. The
C1 esterase inhibitor deficiency does tend to cause the recurrent episodes with respect to
angioedema pertaining to the upper respiratory and the subcutaneous tissues (Riedl et al.,
2017, pp. 1597; Ruddy et al., 2018, pp. 7; Gallagher et al., 2016, pp. 129).
The gastrointestinal tract too gets the acute episodes which are linked to the triggering
caused. The Hereditary Angioedema is bound to be triggered and leads to the episodes in
subcutaneous tissues (Riedl et al., 2017, pp. 1597; Ruddy et al., 2018, pp. 7; Gallagher et al.,
2016, pp. 129). The condition can be well linked to the autosomal dominant condition
wherein the C1 esterase inhibitor levels tend to be considerably reduced, and it is linked to
HAE Type 1.
The poor functioning is further linked to the HAE Type 2. The HAE gets diagnosed with the
finding of the lower C1 esterase levels of inhibitor (Riedl et al., 2017, pp. 1597; Ruddy et al.,
2018, pp. 7; Gallagher et al., 2016, pp. 129).

IMMUNOLOGY EXAM – SECTION B
References
Allenspach, E. and Torgerson, T.R., 2016. Autoimmunity and primary immunodeficiency
disorders. Journal of clinical immunology, 36(1), pp.57-67.
Angioi, A., Fervenza, F.C., Sethi, S., Zhang, Y., Smith, R.J., Murray, D., Van Praet, J., Pani,
A. and De Vriese, A.S., 2016. Diagnosis of complement alternative pathway disorders.
Kidney international, 89(2), pp.278-288.
Gallagher, C., Ruddy, S. and Manning, M.C., Shire ViroPharma Inc, 2016. C1-inh
compositions and methods for the prevention and treatment of disorders associated with c1
esterase inhibitor deficiency. U.S. Patent Application 14/855,168.
Lui, H., Zhang, J., Makinson, S.R., Cahill, M.K., Kelley, K.W., Huang, H.Y., Shang, Y.,
Oldham, M.C., Martens, L.H., Gao, F. and Coppola, G., 2016. Progranulin deficiency
promotes circuit-specific synaptic pruning by microglia via complement activation. Cell,
165(4), pp.921-935.
Riedl, M.A., Grivcheva-Panovska, V., Moldovan, D., Baker, J., Yang, W.H., Giannetti, B.M.,
Reshef, A., Andrejevic, S., Lockey, R.F., Hakl, R. and Kivity, S., 2017. Recombinant human
C1 esterase inhibitor for prophylaxis of hereditary angio-oedema: a phase 2, multicentre,

IMMUNOLOGY EXAM – SECTION B
randomised, double-blind, placebo-controlled crossover trial. The Lancet, 390(10102),
pp.1595-1602.
Ruddy, S., Manning, M.C. and Holcomb, R.E., Shire ViroPharma Inc, 2018. C1-inh
compositions and methods for the prevention and treatment of disorders associated with c1
esterase inhibitor deficiency. U.S. Patent Application 15/837,969.