YOU SHOULD TAKE THE FOLLOWING ACTIONS:
Confirmatory studies include absolute lymphocyte counts, determination of the presence/absence of T and B lymphocytes and assessment of their function and molecular genetic testing.
The specialist will:
Immunoglobulin infusions and prophylactic antibiotics are essential to protect against infections. Diarrhea, failure to thrive, otitis media, serious infections (pneumonia, meningitis and/or sepsis), and opportunistic infections commonly occur starting by 2-4 months of life in individuals with SCID. Oral thrush may be seen. Bone marrow hematopoietic cell transplantation may be curative, and outcomes are best if this is performed within the first 3 months of life or before infections occur. Enzyme replacement and experimental gene therapy are available for some SCID genotypes. The most common form of SCID is XSCID (X-linked SCID), occurring only in males. However, autosomal recessive forms of SCID affect both males and females. Specific gene diagnosis is important for directing therapy as well as providing genetic counseling.