Combined immunodeficiencies Flashcards
1
Q
What are the typical investigation findings for SCD?
A
Lymphopenia AND hypogammaglobulinemia
2
Q
What is the most common form of SCID?
A
X-linked secondary to gamma-c deficiency
3
Q
What is mean age for presentation with SCID?
A
6-7mths
4
Q
What do children with SCID typically present with (7)?
A
Respiratory infections Diarrhoea + faltering growth Persistent oral thrush + perianal candidiasis BCG-related complications Disseminated viral infections Skin rashes Absent lymphoid tissue
5
Q
What is Omenn syndrome?
A
Activated non-functional CD8+ T cells
6
Q
What is the curative treatment for SCID?
A
Stem cell transplant
