Excluding the patients with the above transient conditions, 766 living PID patients are being followed up; among them 257 patients are aged 18 years. In general, the distribution of the main PIDs in Ukraine is similar to the structure in European countries (Fig. 11 patients died aged 18 years. The PID Registry included 187 children with transient hypogammaglobulinemia of (+)-Catechin (hydrate) infancy and benign childhood neutropenia, whose manifestations disappeared with age. Excluding the patients with the above transient conditions, 766 living PID patients are being followed up; among them 257 patients are aged 18 years. In general, the distribution of the main PIDs in Ukraine is similar to the structure in European countries (Fig. 4). Compared to the European registry, there is the same pattern with regard to the proportion of antibody deficiencies (54% ESID data), combined immunodeficiencies with syndromic features (18%) and combined immunodeficiencies (7%) [5, 6]. The Ukrainian registry presents 64 specified nosological PID entities. Antibody deficiencies are the most common subcategory of PID [590/1,123 (52.54%)], followed by combined immunodeficiencies (CID) with associated or syndromic features [244/1,123 (21.73%)], CID [(82/1,123 (7.3%)], congenital defects of phagocyte number and function [86/1,123 (7.66%)], diseases of immune dysregulation [29/1,123 (2.54%)], complement deficiencies [20/1,123 (1.78%)] and autoinflammatory disorders [20/1,123 (1.34%)]. Open in a separate window Fig. 4 Distribution of primary immunodeficiency disorder (PID) groups in primary immunodeficiency registry in Ukraine The most common nosological entities are minor antibody (+)-Catechin (hydrate) deficiencies: selective IgA deficiency C 206 (18.3%) and transient hypogammaglobulinemia of infancy C 220 (19.5%). Among the severe immunodeficiencies, the most represented are X-linked agammaglobulinemia C 66 (5.8%), chronic granulomatous disease (CGD) C 28 (2.5%) and CID with syndromic features, including syndrome DiGeorge C 71 (6.3%), Nijmegen syndrome C 53 (4.7%), ataxia-telangiectasia C 51 (4.5%), and Wiskott-Aldrich syndrome (WAS) C 29 (2.6%). Severe combined immunodeficiencies (SCID) account for 63 cases (5.6%). To date, PID has been genetically confirmed in 300 patients in Ukraine, who constitute 26.7% of all patients in the PID registry (Table 1). Table 1 Genetic defects of 300 primary immunodeficiency disorder (PID) patients in Ukraine thead valign=”top” th rowspan=”1″ colspan=”1″ Group of PIDs /th th rowspan=”1″ colspan=”1″ Affected genes ( em n /em ; %) /th /thead Immunodeficiencies affecting cellular and humoral immunityCD40LG (5; 1.66%), MALT1 (1; 0.33%), RAG1 (5; 1.66%), DOCK8 (3; 1.0%), IL7R (1; 0.33%), ADA (3; 1.0%), IL-2RG (4; 1.33%), IL-2Ra (1; 0.33%), LIG4 (1; 0.33%), DCLRE1C (3; 1.0%)Combined immunodeficiencies with associated or syndromic featuresWAS (21; 7.0%), ATM (11; 3.0%), NBS1 (52; 17.3%), STAT3 (6; 2.0%), Del 22q11.2 (32; 10.66%), SPINK5 (4; 1.33%), PMRP (2; 0.66%), KMT2D (1; 0.33%)Predominantly antibody deficienciesBTK (34; 11.3%), PIK3CD (2; 0.66%), PIK3R1 (2; 0.66%), TNFRSF13B (11; 3.66%), IGLL1 (1; 0.33%), NFKB2 (2; 0.66%), AICDA (2; 0.66%)Diseases of immune dysregulationSH2D1A (2; 0.66%), TNFRSF6 (5; 1.66%), CXCR4 (3; 1.0%), CTLA4 (4; 1.33%), AIRE (5; 1.66%), FOXP3 (1; 0.33%), RAB27A (1; 0.33%), LRBA (1; 0.33%)Congenital defects of phagocyte number or functionCYBB (7; 2.33%), CYBA (3; 1.0%), FERMT3 (3; 1.0%), HAX1 (1; 0.33%), ELANE (6; 2.0%), SBDS (4; 1.66%), IL-12R (4; LRRC48 antibody 1.66%), ITGB2 (1; 0.33%), RAC2 (1; 0.33%), GATA2 (2; 0.66%), IRF8 (1; 0.33%)Defects in intrinsic and innate immunitySTAT1 (4; 1.66%), SMARCAL1 (1; 0.33%), CTSC (3; 1.0%)Autoinflammatory disordersNOD2 (5; 1.66%), MVK (2; 0.66%), ADA2 (2; 0.66%), NLRP3 (3; 1.0%), MEVF (5; 1.66%), NLRP12 (3; 1.0%), NFAT5 (1; 0.33%), TNFRSF1A (1; 0.33%)Complement deficienciesCD59 (1; 0.33%)Bone marrow failureTINF2 (3; 1.0%), TCN2 (1; 0.33%), FANCC (1; 0.33%), RTEL1 (1; 0.33%), TERT (1; 0.33%) Open in a separate window CD40LG C CD40 ligand gene, MALT1 C mucosa-associated lymphoid tissue lymphoma translocation protein 1 gene, RAG1 C recombination activating 1 gene, DOCK8 C dedicator of cytokinesis 8 gene, IL7R C IL7 receptor gene, ADA C adenosine deaminase gene, IL-2RG C interleukin 2 receptor subunit gamma gene, LIG4 C DNA ligase 4 gene, DCLRE1C C DNA cross-link repair 1C gene, WAS C Wiskott-Aldrich syndrome gene, ATM C ataxia telangiectasia mutated gene, NBS1 C Nijmegen breakage syndrome 1 gene, STAT3 C signal transducer and activator of transcription 3 gene, Del 22q11.2 C chromosome 22q11.2 deletion syndrome, SPINK5 C serine peptidase inhibitor kazal type 5 gene, PMRP C POP1 homolog, ribonuclease P/MRP subunit gene, KMT2D C lysine methyltransferase 2D gene, BTK C Bruton tyrosine (+)-Catechin (hydrate) kinase gene, PIK3CD C phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene, PIK3R1 C phosphoinositide-3-kinase regulatory subunit 1 gene,.
Excluding the patients with the above transient conditions, 766 living PID patients are being followed up; among them 257 patients are aged 18 years
