immunodeficiency II Flashcards
exam 4
chromosome 22q11.2 deletion syndrome
di Geroge syndrome
parathyroid hypoplasia
hypocalcemia
cardiac anomalies, hypoplastic/absent thymus, hypocalcemia, facial abnormalities
Di George
CATCH 22
C-cardiac abnormality A- abnormal facies T- Thymic aplasia C- Cleft palate H- Hypocalcemia
recurrent infections with intracellular bacteria, fungi, large viruses and also pyogenic organims due to lack of T cell help for the B cells
Di George
Patients with Di George syndrome will have:
A) Decreased numbers of surface IgM and IgD positive B-cells B) Normal serum IgE levels C) Normal serum anti-influenza IgG levels after immunization with the influenza vaccine D) Normal ability to produce acute phase proteins such as CRP E) Normal IL-2 production
D) Normal ability to produce acute phase proteins such as CRP
both humoral and cell mediated immunity are defective and susceptible to all infections agents
SCID
The comonest form of SCID is a mutation of the common-chain of the
IL-2 receptor
Tx. for SCID
stem cell transplantation
What do we need to worry by a stem cell transplantation
GVH disease
ADA deficiency
SCID for adenosine deaminase deficiency
SCID: _____ lymphocyte syndrome
Bare
mutations of protein kinase (JAK3 or ZAP 70) or mutations in RAG1 and RAG2
abnormal signal syndrome–> SCID
mutation of the CD3 molecule
SCID
immunodeficiency, thrombocytopenia (low platelet count), Eczema
wiskott aldrige syndrome
