SCID

Question 1

SCID

pathophysiology

Answer 1

rare genetic syndrome
disturbance in cell mediated, humoral immunity
combined defect in T, B lymphocyte development and function
= severe immunodeficiency

can be due to cytokine receptor defect, adenosine deaminase deficiency (utations)

risk factors- X linked recessive pattern of inheritance so more common in male

Question 2

SCID complications

Answer 2

susceptible to recurrent and severe infections by a wide range of micoorganisms

candida
pneumocystis jiroveci
psuedomonas 
cytomegalovirus
varicella

Question 3

SCID signs and symptoms

Answer 3

recurrent infections
oral candidiasis (prominent thrush)
chronic diarrhoea 
malabsorption, failure to thrive
extensive rash
morbilliform rash due to reaction of maternal T cells gainst fetus

Question 4

SCID diagnosis

Answer 4

bloods:
FBC 
total lymphocyte count low
T cell count low
B cell count low
immunoglobulin low
PCR

CXR- hypoplasia of lymphoid tissue. absent thymic shadow, thymic hypoplasia

genetic testing
lymph node biopsy

Question 5

treatment of SCID

Answer 5

prevention (bubble bay disease)
avoid live vaccine
antimicrobial prophylaxis
immunoglobulin replacement therapy

HSCT- curative in most cases (hematopoietic stem cell transplantation)