Idiopathic neutropenia

Title

Not a rare disease

Other Names:

Nonimmune chronic idiopathic neutropenia of adults; NI-CINA

Categories:

Blood Diseases

Summary Summary

Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown.^[1] Neutropenia is a blood condition that causes a reduced number or complete absence of neutrophils, a type of white blood cell that is responsible for much of the body's protection against infection. Symptoms include fever, moth sores, and other types of infections. Neutropenia idiopathic may occur in children and adults.^[2] Frequency and severity of infections appear to be directly related to neutrophil count; while clinical problems in individual patients may vary, in general, those patients with more severe neutropenia have more frequent infections.^[3] Most patients respond well to granulocyte-colony stimulating factor (G-CSF).^[4] Long-term treatment is usually required.^[2]^[3]

Last updated: 1/13/2014

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Acute myeloid leukemia	7.5%
Autosomal dominant inheritance	-
Neutropenia	-

Last updated: 9/1/2016

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
PubMed is a searchable database of medical literature and lists journal articles that discuss Idiopathic neutropenia. Click on the link to view a sample search on this topic.