Once upon a time there were three young brothers, and SPOILER ALERT- this part of the story, unfortunately, does not have a happy ending.
Each brother suffered: Each had chronic infections, they had terrible skin problems, and bloody diarrhea. Each of them died of either infection or blood loss before their second birthday. Mom and Dad lost all three boys. But they were not forgotten.
Their pediatrician, Dr. Wiskott documented the story in great detail and yet, it remained a mystery.
Seventeen years later, a similar case was documented by an American pediatrician, Dr. Aldrich. Again, all the suffering children were young male infants with eczema, and bloody stools, and lots of respiratory infections.
It took 57 years, to find, on the short arm of the X-chromosome, the reason why. Mutations in Xp11.22-p11.23- The variations in the mutations- missense mutations, nonsense mutations, short deletion mutations, splice –site mutations – more than 300 variations, account for the variability of disease by those affected in what has come to be known by the names of the two docs who first recorded this Wiskott-Aldrich Syndrome (WAS).
This syndrome is characterized by auto-immune issues (70%) and low platelet counts (>80%) and eczema. And many have immunodeficiency, and some malignancies.
Because males have only one x-chromosome, diseases that are linked to problems on this chromosome are more likely to manifest the full disorder in males. Females, inherit two X chromosomes; one from each parent. Thus, even if one chromosome has a deletion, or mutation, the other one may be able to carry on. Still, there are a few females who are themselves affected. A mom who is a carrier of this chromosome with mutated alleles has a 50% chance of passing it on to each son and a 50% chance of passing carrier status on to each daughter.
But now it is 2017! With aggressive management these four in a million kids have a chance! Those who have received HSCT are doing well!