Reviewer: S. Randhawa, M.D., Allergist/Immunologist and Assistant Professor at LSU (Shreveport) Department of Allergy and Immunology
Phagocyte immunodeficiencies (click to enlarge the image):
In Chediak-Higashi syndrome (CHS), there are giant abnormal granules in all granule-containing cells – including melanocytes. CHS patients are unable to form normal lysosomes and cytoplasmic granules.
Clinical features of Chediak-Higashi Syndrome (CHS)
- neutropenia
- recurrent pyogenic infections
- partial oculocutaneous albinism
- progressive neurologic abnormalities
- mild coagulation defects
- lymphoma-like accelerated phase which often leads to death
Less than 500 cases of CHS were reported worldwide in the past 20 years. Parental consanguinity is common. CHS is linked to a mutation at 1q42 leading to an absent CHS1/LYST protein, a lysosomal trafficking regulator.
CHS1/LYST is part of the BEACH family of vesicle trafficking regulatory proteins. BEACH is a family of vesicle trafficking regulatory proteins, BEACH domain (named after BEige And Chediak-Higashi), related to WD40 repeats (proteins in histone recognition).
Diagnosis of CHS
- partial oculocutaneous albinism
- progressive neurologic abnormalities
- mild coagulation defects
- lymphoma-like accelerated phase which often leads to death
Less than 500 cases of CHS were reported worldwide in the past 20 years. Parental consanguinity is common. CHS is linked to a mutation at 1q42 leading to an absent CHS1/LYST protein, a lysosomal trafficking regulator.
CHS1/LYST is part of the BEACH family of vesicle trafficking regulatory proteins. BEACH is a family of vesicle trafficking regulatory proteins, BEACH domain (named after BEige And Chediak-Higashi), related to WD40 repeats (proteins in histone recognition).
Diagnosis of CHS
The diagnosis is usually made with the giant granules secondary to chemotactic defect, and mutations in LYST 1q42.
Only 10% of patients survive early childhood. Patients with CHS who do not die from infection, enter the "accelerated phase" of the disease. In the "accelerated phase" of CHS, a massive lymphohistiocytic infiltration affects all organ systems and even more profound immune deficiency takes place. This phase is usually lethal.
Related reading:
Chediak-Higashi syndrome: pathognomonic feature - The Lancet http://bit.ly/1aArcdH
Published: 08/29/2009
Updated: 08/29/2010
1 comment:
To any other families who may be affected by CHS and stumble upon this information, there is a yahoo group for CHS families. The HPS Network is also trying to plan a CHS track at it's upcoming conference. For more info: hkdawn@yahoo.com or info@hpsnetwork.org.
Post a Comment