Constitutional neutropenia
MONDO:0015134A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.
Also known as: congenital neutropenia, genetic infantile agranulocytosis, infantile genetic agranulocytosis, Kostmann disease, Kostmann neutropenia, Kostmann syndrome
28 clinical trials for this condition and its sub-types, 2 tagged with Constitutional neutropenia itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Constitutional neutropenia
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Chediak-Higashi syndrome 9 trials
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Severe congenital neutropenia 5 trials · 8 incl. sub-types
8 sub-types
- Autosomal recessive severe congenital neutropenia 0 trials · 3 incl. sub-types Sub-types →
- Neutropenia, severe congenital, 8, autosomal dominant 1 trial
- X-linked severe congenital neutropenia 0 trials
- Autosomal dominant severe congenital neutropenia 0 trials Sub-types →
- Neutropenia, severe congenital, 10, autosomal recessive 0 trials
- Neutropenia, severe congenital, 11, autosomal dominant 0 trials
- Neutropenia, severe congenital, 12, autosomal recessive 0 trials
- Neutropenia, severe congenital, 9, autosomal dominant 0 trials
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Barth syndrome 5 trials
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WHIM syndrome 1 4 trials
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Glycogen storage disease Ib 3 trials
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Cohen syndrome 1 trial
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Griscelli syndrome type 2 1 trial
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Cyclic hematopoiesis 1 trial
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Hermansky-Pudlak syndrome 2 0 trials
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Lichtenstein syndrome 0 trials
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Poikiloderma with neutropenia 0 trials
Most studied deeper sub-types
Kostmann syndrome
(3)
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
(0)
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
(0)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
(0)
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
(0)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
(0)
Neutropenia, lethal congenital, with eosinophilia
(0)
Neutropenia, severe congenital, 1, autosomal dominant
(0)
Neutropenia, severe congenital, 2, autosomal dominant
(0)