Immune and hematological disorders in Primary Immunodeficiency in children

Abstract

Abstract Primary immunodeficiency (PID) was previously considered an extremely rare pathology in childhood, now it has been established that congenital deficit of quantity and functional activity of the lymphocytes, platelets and neutrophils occurs in 1:500–1:4000 newborns. Severe chronic neutropenia in PID is characterized by a stable decrease or absence of circulating neutrophils (<500/cm) and accompanied with recurrent bacterial skin and lung infections. We identified 135 patients with PID. Patient’s examination included clinical observation, general blood test, immunological tests, X-ray of chest and ultrasound examination. We report that six children with PID had significant hematological disorders. The age of these patients was from 1 month to 13 years. Four of them were born from consanguineous marriages, 3 patients died before the age of 5 years. 2 patients with PID had congenital neutropenia, repeated skin infections, pneumonia, diarrhea, stomatitis. Two brothers with WAS syndrome had repeated bleeding, skin hemorrhages, anemia, lymphadenitis, hepatosplenomegaly. The platelet count was about 30–70/ml. Genetic analysis in these patients revealed a hemizygous c.12_13insGG mutation in exon 1 of the WAS gene. 2 children with SCID were found to be carriers of thalassemia B. All our patients showed a significant decrease in Ig classes, CD3+, CD4+, CD8+ and NBT test. We conclude that patients with suspected PID should be continuously monitored by Immunologists and Hematologists. Timely detection of hematological disorders in patients with PID allows for correct diagnosis and prevents fatal complications. Genetic testing can help in making a definitive diagnosis. Supported by Azerbaijan Medical University