Chronic familial neutropenia

MedGen UID:: 777137
•Concept ID:: C3665676
•: Disease or Syndrome

Synonyms:	Chronic idiopathic neutropenia; Leukopenia benign familial
SNOMED CT:	Benign familial neutropenia (234576008); Chronic familial neutropenia (234576008)

Monarch Initiative:	MONDO:0008089
OMIM®:	162700

Clinical features

From HPO

Clubbing of fingers

MedGen UID:: 3129
•Concept ID:: C0009080
•: Finding

Terminal broadening of the fingers (distal phalanges of the fingers).

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Clubbing

MedGen UID:: 57692
•Concept ID:: C0149651
•: Anatomical Abnormality

Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.

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Periodontitis

MedGen UID:: 45815
•Concept ID:: C0031099
•: Disease or Syndrome

Inflammation of the periodontium.

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Neutropenia

MedGen UID:: 163121
•Concept ID:: C0853697
•: Finding

An abnormally low number of neutrophils in the peripheral blood.

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Increased circulating antibody level

MedGen UID:: 1713383
•Concept ID:: C5397581
•: Finding

An increased level of gamma globulin (immunoglobulin) in the blood.

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Gingivitis

MedGen UID:: 4895
•Concept ID:: C0017574
•: Disease or Syndrome

Inflammation of the gingiva.

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Premature loss of teeth

MedGen UID:: 66678
•Concept ID:: C0232513
•: Finding

Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.

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Abnormality of head or neck
- Gingivitis
- Premature loss of teeth
Abnormality of limbs
- Clubbing
- Clubbing of fingers
Abnormality of the immune system

Professional guidelines

PubMed

Acalabrutinib and its use in treatment of chronic lymphocytic leukemia.

Khan Y, O'Brien S
Future Oncol 2019 Feb;15(6):579-589. Epub 2018 Nov 1 doi: 10.2217/fon-2018-0637. PMID: 30381956

Treatment of Lymphoid and Myeloid Malignancies by Immunomodulatory Drugs.

Fuchs O
Cardiovasc Hematol Disord Drug Targets 2019;19(1):51-78. doi: 10.2174/1871529X18666180522073855. PMID: 29788898

Congenital neutropenia: diagnosis, molecular bases and patient management.

Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB
Orphanet J Rare Dis 2011 May 19;6:26. doi: 10.1186/1750-1172-6-26. PMID: 21595885 Free PMC Article

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