Background: Omenn syndrome is a rare, autosomal recessive disorder. It is a disorder that stems from severe combined immunodeficiency in an affected individual. The disease is also of rare occurrence in children in Pakistan because this is the age where this disease usually presents, after having developed in the child. This case report will explore all the reasons that lead to the occurrence of this syndrome while also reflecting on the management profile of the child.
Case presentation: This case report deals with the discussion of one such child who was diagnosed with Omenn Syndrome after being diagnosed with several other diseases, which were being mistaken for being the actual problem and disease, but the reality was that the child was suffering from Omenn syndrome.
Discussion: The child is only 3 months old and his symptoms pose a great risk to his overall health status while also making him predisposed to develop several complications and nutritional deficiencies as a result, all of which keep on adding to the burden of diseases that the child faced. In Omenn syndrome, there is an increased susceptibility to develop infections of the skin, lungs, joints, as well as sepsis. Usually, the death of the patient ensues due to pneumonia and septicemia or septic shock.
Conclusion: Omenn syndrome is a rare disease caused by missense mutations in the recombinase activating genes. It can be treated by bone marrow transplantation or lymphocytic stimulation depending on the severity of the presenting underlying immunodeficiency.
Keywords: Autosomal recessive; Drug resistance; Genetic mutation; Omenn syndrome; Severe combined immuno-deficiency syndrome.
© 2022 The Authors. Published by Elsevier Ltd on behalf of IJS Publishing Group Ltd.