ICF syndrome

Overview

ICF syndrome: A very rare, recessively inherited syndrome characterized mainly by a weak immune system and facial anomalies.

Symptoms

The list of signs and symptoms mentioned in various sources for ICF syndrome includes the 23 symptoms listed below: Unusual facial appearance Retarded growth Failure to thrive Psychomotor retardation Low IgG serum level Low IgM serum level Low IgA serum level Immunoglobulin deficiency Recurring infections Small jaw Short stature Anemia Communicating hydrocephaly Depressed nose bridge Large head Recurring skin infections Recurring digestive system infections Recurring lung infections Lymphocyte dysfunction Malabsorption Chronic diarrhea Mental retardation Neutropenia Note that ICF syndrome symptoms usually refers to various symptoms known to a patient, but the phrase ICF syndrome signs may refer to those signs only noticable by a docto

Causes

SCID is usually transmitted as an autosomal recessive trait, although it may be X-linked. In most cases, the genetic defect seems associated with failure of the stem cell to differentiate into T and B lymphocytes. Many molecular defects such as mutation of the kinase ZAP-70 can cause SCID. X-linked SCID is due to a mutation of a subunit of the interleukin (IL)-2, IL-4, and IL-7 receptors. Less commonly, it results from an enzyme deficiency. SCID affects more males than females. Its estimated incidence is 1 in every 100,000 to 500,000 births. Most untreated patients die from infection within 1 year of birth. READ BOOK EXCERPT ONLINE » Acquired immunodeficiency syndrome: Causes and incidence (Professional Guide to Diseases (Eighth Edition)) AIDS results from infection with HIV, which has two forms: HIV-1 and HIV-2. Both forms of HIV have the same modes of transmission and similar opportunistic infections associated with AIDS, but studies indicate that HIV-2 develops more slowly and presents with milder symptoms than HIV-1. Transmission occurs through contact with infected blood or body fluids and is associated with identifiable high-risk behaviors. It’s disproportionately represented in: ❑ homosexual and bisexual men ❑ persons who use illicit I.V. drugs ❑ neonates of infected females ❑ recipients of contaminated blood or blood products (incidence dramatically decreased since mid-1985) ❑ heterosexual partners of persons in the former g