From HPO
Neutrophil nuclear clefts- MedGen UID:
- 1705120
- •Concept ID:
- C5209289
- •
- Finding
An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.
Recurrent pneumonia- MedGen UID:
- 195802
- •Concept ID:
- C0694550
- •
- Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Abnormal neutrophil count- MedGen UID:
- 663207
- •Concept ID:
- C0580316
- •
- Finding
A deviation from the normal range of neutrophil cell counts in the circulation.
Recurrent otitis media- MedGen UID:
- 155436
- •Concept ID:
- C0747085
- •
- Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Recurrent bacterial infections- MedGen UID:
- 334943
- •Concept ID:
- C1844383
- •
- Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Absent neutrophil specific granules- MedGen UID:
- 868458
- •Concept ID:
- C4022852
- •
- Finding
Lack of specific granules in neutrophils.
Impaired neutrophil bactericidal activity- MedGen UID:
- 868687
- •Concept ID:
- C4023090
- •
- Finding
A reduction in the ability of neutrophils to kill bacteria.
Hyposegmentation of neutrophil nuclei- MedGen UID:
- 892291
- •Concept ID:
- C4023351
- •
- Cell or Molecular Dysfunction
Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.
Impaired neutrophil chemotaxis- MedGen UID:
- 895851
- •Concept ID:
- C4280709
- •
- Cell or Molecular Dysfunction
An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response
Absent neutrophil lactoferrin- MedGen UID:
- 1702815
- •Concept ID:
- C5209288
- •
- Laboratory or Test Result
The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.
Increased neutrophil mitochondria- MedGen UID:
- 1696832
- •Concept ID:
- C5209291
- •
- Finding
An increased number of mitochondria detected in neutrophils.
Increased neutrophil ribosomes- MedGen UID:
- 1701365
- •Concept ID:
- C5209292
- •
- Finding
An increased number of ribosomes detected in neutrophils.
Low neutrophil alkaline phosphatase- MedGen UID:
- 1685638
- •Concept ID:
- C5209290
- •
- Finding
An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.
- Abnormality of metabolism/homeostasis
- Abnormality of the immune system
- Abnormality of the nervous system
- Abnormality of the respiratory system