Features of the clinical picture and course of GATA2 deficiency complicated by generalized verrucosis with an outcome in myelodysplastic syndrome in adulthood

Abstract

GATA2 deficiency is a rare disease belonging to the group of phagocyte birth defects, which is clinically manifested by four syndromes: MonoMac syndrome (myedysplasia and immunodeficiency associated with the development of infections caused by Mycobacterium avium complex); monocyte, dendritic cell, B- and NK-lymphocyte deficiency syndrome; Emberger syndrome, including primary lymphedema with myelodysplasia and sensorineural hearing loss, as well as familial myelodysplastic syndrome and acute myeloid leukemia. The disease is inherited by autosomal dominant type, but in most cases, mutations ofthe germ line of the GATA2 gene occur de novo. The first manifestations of the disease occur in early adulthood, the course of GATA2 deficiency is variable and may differ in individuals in the same family with similar genetic variants. The article presents a clinical case of manifestation of GATA2 deficiency at the age of seven years in the form of development of generalized verrucosis, lymphostasis of the lower limb, generalized tuberculosis with involvement of the abdominal cavity, small pelvis, and chest organs. The examination revealed deficiency of monocytes, B- and NK-lymphocytes, myelodysplastic syndrome with multilineage dysplasia. We present a detailed description of the clinical picture and peculiarities of the course of the primary immunodeficiency state, the results of the examination and treatment.

Keywords

• primary immunodeficiency
• generalized verrucosis
• myelodysplastic syndrome
• hematopoietic stem cell transplantation