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Indian Pediatr 2014;51: 321-322 |
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Autoimmunity in Immunodeficiency
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Biplab Maji and Priyankar Pal
Institute of Child Health, Kolkata, West
Bengal, India.
Email:
[email protected]
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A 1-year-old boy presented with recurrent attacks of severe
life threatening infections since 5 months of age, along
with persistent diarrhea for last 3 months. He was visibly
malnourished and had generalized erythroderma with scaling.
Immunophenotyping from peripheral blood showed very low CD4+
and CD8+ count (9/µL and 94/µL, respectively); CD4/CD8 ratio
was 0.09. Immunoglobulin (IgM: 6 mg/100 mL, IgA: 6 mg/100 mL,
IgG:110 mg/100 mL, IgE:5.71.U/mL) levels were below normal
suggesting a diagnosis of Severe combined immunodeficiency
(SCID). This patient developed high fever,
hepatosplenomegaly and pancytopenia (total leukocyte count
0.3×10
3/µL,
neutrophil 12%, platelet count 78×103/µL,
hemoglobin 6.8 g/dL). Fasting triglycerides (342 mg/dL) and
serum ferritin (9240 ng/mL) were raised, and bone marrow
showed hemophagocytosis. Intravenous immunoglobulins were
started along with antibiotics. General condition of the
patient deteriorated and the patient expired in next few
days.
Although it sounds paradoxical, an
autoimmune phenomenon can complicate a pre-existing primary
immunodeficiency disorder, thereby creating a diagnostic and
therapeutic challenge for the physician. Cases like
Autoimmune thrombocytopenia and Autoimmune hemolytic anemia
in Common variable immuno-deficiency [1], and Omen syndrome
and Autoimmune thrombocytopenia in SCID [2] have been
reported. Impairment of both central and peripheral
tolerance is responsible for autoimmunity observed in SCID
[3]. Treatment with immunosuppressive agents such as
corticosteroids can exacerbate the infections associated
with immunodeficiency disorders. So non-immuno-suppressive
agents such as intravenous immunoglobulins and targeted
monoclonal antibodies are likely to be preferable [4].
References
1. Ramyar A, Aghamohammadi A, Moazzami K,
Rezaei N, Yeganeh M, Cheraghi T, et al. Presence of
idiopathic thrombocytopenic purpura and autoimmune hemolytic
anemia in the patients with common variable
immunodeficiency. Iran J Allergy Asthma Immunol.
2008;7:169-75.
2. Elhasid R, Bergman R, Etzioni A.
Autoimmunity in severe combined immunodeficiency. Blood.
2002;100:2676-7.
3. Milner JD, Fasth A, Etzioni A.
Autoimmunity in severe combined immunodeficiency (SCID):
lessons from patients and experimental models. J Clin
Immunol. 2008;28:29-33.
4. Goyal R, Bulua AC,Nikolov NP, Schwartzberg PL, Siegel
RM. Curr Opin Rheumatol. 2009;21:78-84.
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