Congenital heart defect (tetralogy of Fallot [TF]) was diagnosed antenatally. Only one case completely match CATCH-22 syndrome (cardiac defects, irregular facies, thymic hypoplasia, cleft palate, and hypocalcaemia caused by22q11.2 deletion). The additional cases experienced three out of the five main features, with some other, less significant indications also offered. In some cases, actually just a few indications should be the reason for further exam to exclude 22q11.2 deletion syndrome. Currently, immunological disorders are not a significant determinant in the analysis of this syndrome, and timely correction of heart problems can reduce the quantity of Rabbit Polyclonal to SPI1 recurrent respiratory infections. A multidisciplinary approach to the management of these patients and providing timely, complex medical care will prevent severe complications. and em Escherichia coli /em . During the 1st year of the childs existence we noticed slight growth retardation. At the age of one year his excess weight was 8300 g, body size 71 cm, and slight developmental motor delay was identified (Fig. 2). Open in a separate windowpane Fig. 2 Mild developmental engine delay in patient No. 1 at one year old In the second year of existence the son received outpatient treatment for onychomycosis on both hands, having a positive effect. Laboratory investigations exposed serum ionised calcium level ranging from 0.61 to 0.94 mmol/l (normal 0.95-1.05 mmol/l), so calcium supplementation was prescribed. Immunological studies showed normal levels of T cells, B cells, and immunoglobulins (Table 2). Blood count guidelines were also normal. Despite the low level of calcium, the patient experienced no seizures. Table 2 White blood cells and immunological details of chromosome 22q11.2 deletion syndrome in the studied instances thead th align=”remaining” rowspan=”1″ colspan=”1″ Parameter /th th align=”center” rowspan=”1″ colspan=”1″ Case 1 /th th align=”center” rowspan=”1″ Clevidipine colspan=”1″ Case 2 /th th align=”center” rowspan=”1″ colspan=”1″ Case 3 /th /thead Cells/mm3 (%)6 months of age6 weeks of age8 weeks of ageLeukocytes9600629012 700Neutrophils4320 (45%)2440 (38.8%)4000 (31.5%)Lymphocytes3648 (38%)2849 (45.3%)6591 (51.9%)Monocytes672 (7%)818 (13%)2108 (16.6%)CD32115 (58%)1504 (52.8%)2702 (41%)CD41350 (37%)920 (32.3%)1252 (19%)CD8693 (19%)538 (18.9%)922 (14%)CD19766 (21%)1037 (36.4%)1055 (16%)CD14ND103 (3.6%)NDCD3/56ND43 (1.5%)NDCD16/56328 (9%)279 (9.8%)NDCD45ND99.7%NDIgG9.1 g/l5.7 g/l12.8 g/lIgA0.95 g/l0.5 g/l2.1 g/lIgM0.84 g/l0.44 g/l1.4 g/lIgE3.8 IU/mlNDNDFunctional activityNDNDSpontaneous117 opt.un.Induced292 opt.un.Phagocytic index2.5 Open in a separate window ND C not done Case 2 A one-year-old girl was born after a second full-term pregnancy via spontaneous vaginal delivery, weighting 3200 g. The pregnancy was complicated by dysfunction Clevidipine of the placenta and the threat of interruption at 11 weeks. Chronic herpes illness was diagnosed in the pregnant mother. Family history was non-contributory. Congenital heart problems (membranous ventricular septal defect [VSD] and open oval windowpane) were confirmed on the second day of existence. At the age of 1.5 months the girl was admitted to the Department of Infectious Diseases in critical condition, with severe respiratory, cardiovascular, and neurological disturbances. Bilateral pneumonia and urinary tract illness were diagnosed. Enterococcus faecalis was exposed in urine tradition. At the age of 4.5 months open oval window was confirmed and subarterial ventricular septal defect and high pulmonary hypertension were diagnosed. Increased levels of Ig G herpes virus type I-II, Ig G cytomegalovirus, Ig G Epstein-Barr disease, and Ig G rubella disease were determined. CRP was also elevated. Palliative surgery (narrowing of the pulmonary artery) was carried out at the age of five months. During Clevidipine the surgery, absence of thymus was exposed. The postoperative period was complicated by long term hyperthermia, which required long-term use of antibiotic therapy. Immunological studies showed low levels of cytotoxic cells (CD3+, CD56+) C 1.5% (normal range 3-8%) and slightly decreased CD4+ at 32.3% (normal 33-58%) and monocytes / macrophages (CD14) C 3.6% (normal range C 6-13%). B-lymphocytes (CD19+) were slightly improved at 36.4% (normal range C 13-35%). While percentage ideals of CD3+, CD8+, NK-cells, and immunoglobulins were normal, the complete values of CD3+, CD4+, CD8+, and NK cells were moderately reduced (Table 2). NBT test was normal. FISH analysis on metaphase plates using Vysis TUPLE1 (HIRA) Spectrum Orange/LSI ARSA Specrtum Green [Abbott] confirmed the chromosome 22q11.2 deletion: ish del(22)(q11.2q11.2)(TUPLE1C). This individual experienced no palate abnormalities. Characteristic facial features were very subtle. Auxological guidelines were normal. At the age of one year her excess weight was 9000 g, body size 76 cm. Developmental disabilities were absent in this period. Serum calcium level was normal and seizures were absent (Table.