Table 1.

Clinical manifestations and care of patients with SDS

Hematologic
Peripheral blood cytopenias	CBC with differential
	Reticulocyte count
BMF	Bone marrow aspirate and biopsy
	Immunophenotypic analysis by flow cytometry
	Conventional karyotype and FISH
	Somatic myeloid NGS panel
MDS/AML	Cytoreductive therapy as clinically indicated
	HLA-typing and evaluation for stem cell transplant as indicated
Immune dysregulation	Serum immunoglobulins (IgG, IgM, IgA, IgE)
	Lymphocyte subsets (T-cell subsets, B cells, natural killer cells)
Coagulopathy	Prothrombin time
Nonhematologic
Exocrine pancreatic dysfunction	Serum pancreatic isoamylase
	Fecal elastase
	Serum levels of vitamins A, D, E, and K, copper, and selenium
	Pancreatic enzyme supplementation
Osteopenia/osteoporosis	Consultation with endocrinology as indicated
Short stature	Assessment of age-adjusted growth
Skeletal abnormalities	Consultation with orthopedics as indicated
Cognitive delay	Neurocognitive evaluation as indicated
Neurobehavioral conditions	Consultation with behavioral specialist or psychiatry as indicated
Genetics
Germ line genetic testing	Consultation with experts in SDS genetics
	Inherited BMF gene panelincluding SBDS, EFL1, DNAJC21, SRP54

CBC, complete blood count; HLA, human leukocyte antigen.