Inherited Forms of Bone Marrow Failure

Table 3-1 Inherited Bone Marrow Failure Syndromes:
Inheritance and Mutated Genes

AD, Autosomal dominant; AR, autosomal recessive; IBMFSs, inherited bone marrow failure syndromes; UK, unknown; WHIM, warts, hypogammaglobulinemia, infections, and myelokathexis; X-L, X-linked recessive.

Modified from Dror Y: Inherited bone marrow failure syndromes: Genetic complexity of monogenic disorders. In Genetic Disorders. InTech Open Access Publisher. Available at http://www.intechweb.org.

Figure 3-1 DYSTROPHIC NAILS IN DYSKERATOSIS CONGENITA.

Figure 3-2 LEUKOPLAKIA OF THE TONGUE IN DYSKERATOSIS CONGENITA.

Table 3-2 Miscellaneous Inherited Thrombocytopenia Disorders and Their Major Hematologic Features

AD, Autosomal dominant; AML, acute myeloid leukemia; AR, autosomal recessive; MDS, myelodysplastic syndrome; MPV, mean platelet volume; X-L, X-linked recessive.