Disease
Mutated gene
Inheritance
Associated features
1. Severe congenital neutropenias
SCN1 (elastase deficiency)
ELANE
AD
Susceptibility to myelodysplastic syndrome/acute myelogenous leukemia
SCN2 (GFI1 deficiency)
GFI1
B/T lymphopenia
SCN3 (Kostmann disease)
HAX1
AR
Cognitive and neurological defects, susceptibility to myelodysplastic syndrome/acute myelogenous leukemia
SCN4 (G6PC3 deficiency)
G6PC3
AR
Structural heart defects, urogenital abnormalities, inner ear deafness, venous angiectasis of trunks and limbs
SCN5 (VPS45 deficiency)
VPS45
AR
Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly
2. Glycogen storage disease type 1b
G6PT1
AR
Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly
3. Cyclic neutropenia
ELANE
AD
Oscillations of other leukocytes and platelets
4. X-linked neutropenia/myelodysplasia
WAS
XL, gain of function
Monocytopenia
5. P14/LAMTOR2 deficiency
ROBLD3/LAMTOR2
AR
Hypogammaglobulinemia, partial albinism, growth failure
6. Barth syndrome
Tafazzin (TAZ)
XL
Cardiomyopathy, myopathy, growth retardation
7. Cohen syndrome
COHI
AR
Retinopathy, developmental delay, facial dysmorphisms
8. Clericuzio syndrome poikiloderma with neutropnia
C16ORF57
AR
Poikiloderma, myelodysplastic syndrome
9. JAGN1 deficiency
JAGN1
AR
Some with a bone phenotype
10. 3-Methylglutaconic aciduria
CLPB
AR
Microcephaly, hypoglycemia, hypotonia, ataxia, seizures, cataracts, IUGR
11. G-CSF receptor deficiency
Related posts:
Childhood Aplastic Anemia
Hemophagocytic Lymphohistiocytosis, Secondary
Pathogenesis and Treatment of Hemophilia
Primary Hemophagocytic Lymphohistiocytosis
Myelodysplastic Syndrome (MDS) and Juvenile Myelomonocytic Leukemia (JMML)
Hematopoietic Stem Cells: The Basis of Normal and Malignant Hematopoiesis
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