Signs and Symptoms Approximate Number of Patients Affected Abnormality of mitochondria metabolism 90% Abnormality of Neutrophils 90% Anemia 90% Aplasia/Hypoplasia of the thymus 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Diarrhea 90% Hearing Impairment 90% Recurrent respiratory infection 90% Sepsis 90% Abnormality of temperature regulation 50% Malabsorption 50% Weight Loss 50% Dehydration 7.5% Skin rash 7.5% Skin Ulcer 7.5%
Reticular dysgenesis
Thymic hypoplasia
IgG deficiency
Thyroid dysgenesis
T cell deficiency
Leukocyte adhesion molecule deficiency
GATA2 deficiency
Adenosine deaminase deficiency