Primary immunodeficiency in a child with heterotaxy

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Heterotaxy is a complicated symptom complex in which the location of the main internal organs differs from their normal and complete mirror reflection. Ivemark syndrome is a combination of spleen agenesis with congenital heart disease and abnormalities in the location of the abdominal organs. The exact reason is unknown, with mostly sporadic cases. This paper discusses the genetic, infectious, and toxic factors that damage the differentiation of embryonic tissues between days 31 and 36 of embryogenesis.

The article presents a clinical observation of a patient with Ivemark syndrome, illustrating the difficulties of diagnosing congenital malformations. The peculiarity of this clinical case was determined by the combination of the syndrome with primary immunodeficiency and vascular malformation. Ivemark syndrome is a rare disease; therefore, the awareness of primary care physicians in relation to this pathology is low. Early diagnosis of primary immunodeficiency before a child is at risk of infection is extremely important. A sample case of pharmacological correction, which prolonged the patient’s life, was presented.

This clinical case is published in the Russian Journal of Allergy to acquaint the readership with an extremely rare disease, with which, in all likelihood, the readers of the journal may not be familiar or not familiar enough. However, Ivemark syndrome in combination with a primary immunodeficiency, some evidence of which is given in the article, can be encountered in the practical work of an allergist-immunologist.

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About the authors

Tatyana Pavlova

Irkutsk State Medical Academy of Postgraduate Education – Branch Campus of the Russian Medical Academy of Continuing Professional Education; Irkutsk State Regional Children’s Clinical Hospital

Author for correspondence.
ORCID iD: 0000-0003-3403-4447
SPIN-code: 4893-7250

MD, Cand. Sci. (Med.)

Russian Federation, 100 Yubileyniy residential district, Irkutsk, 664049; Irkutsk

Vera M. Shinkareva

Irkutsk State Regional Children’s Clinical Hospital

ORCID iD: 0000-0003-4496-4066


Russian Federation, Irkutsk


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