Disease Defective gene Protein Inheritance Protein function FHL syndromes without hypopigmentation FHL2 PRF1 Perforin AR Pore formation FHL3 UNC13D Munc13-4 AR Vesicle priming FHL4 STX11 Syntaxin11 AR Vesicle fusion FHL5…
Fig. 4.1 Distribution of patients with myelodysplastic syndrome, myeloproliferative neoplasms, and bone marrow failure in Japan (Reference [3]). One thousand patients were prospectively underwent the central review of morphology and…
Study group Trial Years ALL subtypes No. of patients Age EFS, % (year) OS, % (year) Reference AIEOP/BFM AIEOP-BFM ALL 2000 2000–2006 B-ALL 4016 1–18 80.4 (7) 91.8 (7) Conter…
Disease Clinical characteristic Histologic features CD1a CD14 CD68 CD163 CD207 S100 Factor XIIIa Fascin HLA-DR Others Langerhans cell histiocytosis See text + − +/− − + + − − +…
Fig. 9.1 Linear representation of F8, the structure of FVIII, and its cleavage site. The 26 exons (above) and domain organization (below) of FVIII based on amino acid homology. Activation…
Fig. 7.1 Model of p53 stabilization in response to impaired ribosome biogenesis in DBA. Normal erythroblasts produce large numbers of ribosomes for protein synthesis. Levels of p53 remain low via…
AML with recurrent genetic abnormalities AML with t(8;21)(q22;q22.1); RUNX1-RUNX1T1 AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22);CBFB-MYH11 APL with PML-RARA AML with t(9;11)(p21.3;q23.3); MLLT3-KMT2A AML with t(6;9)(p23;q34.1); DEK-NUP214 AML with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2);…
Fig. 13.1 Pathophysiology of infectious mononucleosis (a) and hemophagocytic lymphohistiocytosis (b) due to primary EB virus infection. EBV-IM EB virus-associated infectious mononucleosis, EBV-HLH EB virus-associated hemophagocytic lymphohistiocytosis, INFγ interferon, IL-6…
Idiopathic AA Secondary AA Hepatitis associated Secondary (drug/chemical/radiation/infection) Inherited AA Fanconi anemia Dyskeratosis congenita Shwachman-Diamond syndrome Congenital amegakaryocytic thrombocytopenia Others Myelodysplastic syndrome Refractory cytopenia of childhood (provisional) Refractory cytopenia with…
Fig. 10.1 Systemic thromboembolic conditions in children and adults. TTP thrombotic thrombocytopenic purpura, ECMO extracorporeal membrane oxygenation, TAFI thrombin-activatable fibrinolysis inhibitor, TFPI tissue factor pathway inhibitor 10.2 Inherited Thrombophilia and…
