Cellular Immune Deficiencies (T-cells)

Question 1

What organisms do you see with cellular immune deficiencies?

Answer 1

Opportunistic organisms
Candida
CMV
Pneumocystis jiroveci

LOW lymphocyte count due to T lymph defects.

DO NOT GIVE LIVE VACCINES

Question 2

What characterizes Ataxia Telangiectasia (AT) and how is it inherited?

Answer 2

Autosomal recessive

Ataxia
Discoloration of the conjunctiva
Frequent sinus infections
Developmental regression

Question 3

What characterizes 22q11 Deletion Syndrome (aka DiGeorge)?

Answer 3

Velocardiofacial syndrome

Conotruncal abnormalities (VSD)
Anal atresia
Thymic aplasia and hypoplasia
Cleft palate
Hypoparathyroidism
22

Question 4

How do you diagnosis 22q11 Deletion Syndrome (aka DiGeorge)?

Answer 4

Diagnosis-

Chromosomal microarray

Question 5

How do pts with 22q11 Deletion Syndrome (aka DiGeorge) present?

Answer 5

Neonatal tetany (hypocalcemia)
Congenital Heart Disease
Abnormal T cell function
Dysmorphic facies (low set ears)
Loud murmur
Infection-diarrhea and hypocalcemia 

20% have intellectual disability. Can see psychiatric conditions like schizophrenia

Question 6

How do you treat pts with 22q11 Deletion Syndrome (aka DiGeorge)?

Answer 6

Treatment-
Underlying conditions (hypocalcemia, infection, cardiac defects)

BEST THERAPEUTIC APPROACH-
thymic transplantation

NO LIVE VACCINES

Question 7

What causes Severe Combined Immunodeficiency and how do pts present?

Answer 7

Complete absence of lymphocyte (both T and B cell) function

Present in first 3 months of life
FTT
Chronic diarrhea
Recurrent opportunistic infections (like thrush)

LOW WBC-CBC is the best screen
Complete absence of T cell function

Question 8

How do you treat pts with Severe Combined Immunodeficiency?

Answer 8

Treatment-
BMW transplant (essential and curative)
If you don't, kids die by 2 yo?

NO LIVE VACCINES

Question 9

What is Adenosine Deaminase Deficiency?

Answer 9

Form of SCID, dysfunction of B & T cells

Question 10

What is Wiskott-Aldrich Syndrome (WAS) and how is it inherited?

Answer 10

X-linked

Eczema
Thrombocytopenia
Cellular immunodeficiency

Question 11

How does Wiskott-Aldrich Syndrome (WAS) ususally present?

Answer 11

Male with infant eczema, recurrent sinopulmonary infections, and unusual bleeding (bloody diarrhea, bruising, and/or bleeding from circ)

WBC problems
Atopic Problems
Small and few plts

*Have a HIGH RATE lymphoma-most common cause of death

Question 12

How do you diagnosis and treat Wiskott-Aldrich Syndrome (WAS) ?

Answer 12

Diagnosis-
Will see a low plts ct, SMALL plts
(ITP have low plts, and large plts)

Treatment-
Mgmt of bleeding and infections
BMW or stem cell transplant can be curative

DO NOT GIVE LIVE VACCINES