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Association of X-Linked Chronic Granulomatous Disease with the Rare Mcleod Phenotype - a Case Report A

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Association of X-Linked Chronic Granulomatous Disease with the Rare Mcleod Phenotype - a Case Report A ASSOCIATION OF X-LINKED CHRONIC GRANULOMATOUS DISEASE WITH THE RARE MCLEOD PHENOTYPE - A CASE REPORT A. Siderow M. Hergersberg 1 2 Blutspende Zürich, Rütistrasse 19, 8952 Schlieren, Switzerland Kinderspital Zürich, 8032 Zürich, Kantonsspital, 5000 Aarau 1 www.blutspendezurich.ch , J. Ries 3, Background R. Röthlisberger1 McLeod syndrome (MLS) is characterized by the absence ,of B. the Grossrieder high frequency red blood cell (RBC) antigen Kx (> 99.9%), wea- kened expression of KEL antigens, acanthocytosis and hemolytic anemia. MLS results from mutations in the XK-Gen at Xp21.1. The XK-Locus is neighbouring the CYBB-Locus. Mutations of the X-chromosomal gene encoding gp91-phox (CYBB), a subunit of cytochrome b (-245) cause the X-linked granulomatous disease (X-CGD). X-CGD caused by deletion of the CYBB locus might be associated with the rare MLS. In these cases, the XK gene locus at Xp21.1 adjacent to CYBB locus is affected by an extend dele- tion of CYBB including Xp21.1 leading to disturbed expression of XK-KEL protein complex on RBC membrane and Kx neg RBC phenotype. To date, 8 different mutations translating into X-CGD associated MLS are known. All affected carriers are males as is expected in X-linked hereditary diseases. 3 1 Figure 1 3 and, B.M.J. Reichenbach Frey Zentrum für Labormedizin, Xp 2 1 22 1 2 , R. Seger Glycerolkinase-Mangel/ Nebennierenhypoplasie 21 Xq Duchenne-Muskeldystrophie (gestört: Dystrophin) McLeod Syndrom Short arm of X-chromosome with (gestört: Kx-Protein) neighbouring loci of McLeod locus septische Granulomatose 2 (gestört: Cytochrom b) , Retinitis pigmentosa Case We report a 10-year old boy with X-CGD and therapy refractory pulmonary aspergillosis. Because of lack of HLA-identical stem Figure 2 cell donor, he was treated by genetically (gp91phox) corrected autologous blood stem cell transplantation (ABSCT). Prior to AB- SCT, he received repeatedly allogeneic granulocyte transfusions. Following mild conditioning for ABSCT, he became transfusion dependent and he received 19 RBC-units. On pretransfusion compatibility testing he presented with a high-titer anti-Kx antibo- dy (>1:8’000) preventing allocation of compatible allogeneic RBC from blood storage repository. Search of rare donor data fi les provided one healthy Swiss blood donor carrying McLeod RBC phenotype who was recruited for directed blood donation. Unfor- tunately, following transfusion of Kx neg RBCs of this donor, the patient developed additional RBC alloantibodies (anti-E, anti- K20) which required worldwide donor search. One compatible donor was identifi ed and provided several units of RBC that were successfully transfused. After suffi cient erythropoietic engraftment the patient became transfusion independent again. Later on, following replacement of an infected Port-à-cath system, the patient was again successfully transfused with Kx neg, K20 neg and E neg RBCs. After complete hematologic reconstitution, following gp91phox-modifi ed ABSCT, the patient reached suffi cient gra- nulocytic activity with complete clearance of infections, however the RBCs continued to be of McLeod phenotype without sign of hemolysis. Figure 4: Clinical outcome of a patient with X-CGD associated MLS Pathognomonic red blood cell changes (acant- hocytes) in carriers of McLeod mutation 130 120 Figure 3 110 100 90 Hemoglobin80 (g/l) 70 60 50 07.01.2008 21.01.2008 04.02.2008 XK-Kell-Komplex as expressed in the normal red Molecular Characterisation18.02.2008 of McLeod Mutation blood cell membrane. Mutated or absent XK protein due to McLeod mutations leads to weakend expres- 03.03.2008 sion of Kell antigens of the Kell protein. By array comparative genomic17.03. 2hybridization,008 an exon-specifi c PCR of the XK-Gen, a deletion at Xp21.1 was identifi ed encompas- sing the complete XK-gene and3 1the.03.2 fi0 0rst8 three (of 13) exons of the CYBB gene. Between the breakpoints 37’381’984+/-1bp and 37’533’472+/-1bp a deletion of 160’000bp14.04.2008 was found by sequencing. This so far unknown deletion lead to the clinical phenotype of X-CGD associated MLS. 28.04.2008 12.05.2008 Conclusions 26.05.2008 09.06.2008 X-CGD is rarely associated with hereditary MLS harbouring23 .0the6.20 risk08 of allosensitisation against the high-frequency RBC antigen Kx which may severely compromise transfusion support. Therefore,07.07.2 such008 patients require immunohematological work-up and ex- tensive organisational preparation for transfusion support prior to 2invasive1.07.2008 regimens, e.g. surgery and hematopoietic stem cell transplantation. The genetic correction of CGD (CYBB locus) does not correct04.08.2 0the08 genetic defect causing MLS. 18.08.2008 01.09.2008 42. Jahreskongress der Deutschen Gesellschaft für Transfusionsmedizin und Immunhämaologie1 (DGTI),5.09.2008 15.-18. September 2009, Rostock 29.09.2008 13.10.2008 27.10.2008 10.11.2008 Hemoglobin concentration 24.11.2008 Erythropoitin i.v. 08.12.2008 RBC Transfusion 22.12.2008 HTR: Hemolytic Transfusion Reaction 05.01.2009 19.01.2009 Anti-Kx 02.02.2009 Anti-Km/-K20 16.02.2009 Anti-E 02.03.2009 16.03.2009 10.8.-27.12.2007 ABSCT, Transfusion support with random 30.03.2009 products (19 EKs, 24 PKTs) 13.04.2009 21.1.2008 Tx of 05.8.2008 Tx of 25.8.2008 Tx of 01.9.2008 Tx of 12.9.2008 Tx of 16.9.2008 Tx of Kx+ RBC HTR Kx- RBC no HTR Kx- RBC HTR Km-, Kx-, E- RBC no HTR Km-, Kx-, E- RBC no HTR Km-, Kx-, E- RBC no HTR.
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