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Kostmann syndrome

MONDO:0012548

Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.

Also known as: infantile agranulocytosis, neutropenia, severe congenital 3, autosomal recessive, severe congenital neutropenia type 3, Kostmann disease, SCN3, agranulocytosis infantile, agranulocytosis, infantile, neutropenia, severe congenital, 3, autosomal recessive

35 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Hereditary disease (176) Hematologic disorder (170) Immune system disorder (148) Inherited disease susceptibility (79) Hereditary neoplastic syndrome (59) Neutropenia (32) Syndromic disease (25) Human disease (14) Neoplastic disease or syndrome (7)
Trials to join now! 17 Not yet recruiting 2 Not yet finished but already full! 9 Completed 7
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