Individuals with<unk>  commonly exhibit abnormalities in their circulating blood cells (see above "Hematologic" section of Signs and symptoms) that may precede other signs and symptoms of the disease by years. Their bone marrow typically shows significant reductions in one or more types of blood cell lines (i.e. hypocellularity) with characteristic dysplastic features of increased sizes of cells in the red blood cell line (i.e. macrocytic erythropoiesis), small or enlarged megakaryocytes, abnormalities in the maturation of cells in the granulocyte cell line, fibrosis consisting of reticular fibers, increased numbers of T cells containing numerous large granules in their cytoplasm, and in advanced cases increases in blast cell numbers. The bone marrow in advanced cases may also exhibit increase in cellularity, i.e. hypercellularity.<unk>  deficient individuals often have highly increased blood levels of FMS-like tyrosine kinase 3 ligand However, these as well as other features are diagnostic of a hematologic disorder but not necessarily of<unk> . DNA sequencing of the full<unk>  gene coding region including the intron4 enhancer by Sanger sequencing or high-throughput methods along with DNA copy number analysis and karyotyping should establish the presence of<unk>  gene mutations; comparison of detected gene mutations to the list of inactivating<unk>  gene mutations plus the clinical presentation and family history are essentials in making the diagnosis of<unk> .
GATA2 deficiency
WNT4 deficiency
Janus kinase 3 deficiency
ZC4H2 deficiency
CDK13-related disorder
LRBA deficiency
ZAP70 deficiency
1p36 deletion syndrome