Constitutional neutropenia

MONDO:0015134

A 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.

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Where it sits in the disease tree

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Part of

↑ Congenital hematological disorder (101) ↑ Neutropenia (58)

Sub-types of Constitutional neutropenia

Chediak-Higashi syndrome 9 trials
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
Barth syndrome 5 trials
WHIM syndrome 1 4 trials
Glycogen storage disease Ib 3 trials
Cohen syndrome 1 trial
Griscelli syndrome type 2 1 trial
Cyclic hematopoiesis 1 trial
Hermansky-Pudlak syndrome 2 0 trials
Lichtenstein syndrome 0 trials
Neutropenia-monocytopenia-deafness syndrome 0 trials
Poikiloderma with neutropenia 0 trials
Primary immunodeficiency syndrome due to p14 deficiency 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)

Including sub-types (28) Tagged with Constitutional neutropenia (2)

Trials to join now! 12 Not yet recruiting 3 Not yet finished but already full! 8 Completed 5

Constitutional neutropenia

Where it sits in the disease tree

Most studied deeper sub-types

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