Immunodeficiency Syndromes

Question 1

What immunodeficiency features the following features: repeated bacterial infections, skin abscesses and diarrhea.

Answer 1

Chronic Granulomatous disease = diagnosed with Neutrophil Oxidative Index (NOI) from the oxidative burst.

Question 2

What immunodeficiency features the following features: poor wound healing, leukocytosis, pus

Answer 2

Leukocyte Adhesion Deficiency Type 1 = WBCs can’t migrate to site of infections since they can’t attach to blood vessel wall.

Question 3

What immunodeficiency features the following features: fever, vomiting, Niesseria found in CSF.

Answer 3

C-6 Deficiency = tested with CH50 total complement that detects low C5b-9 complex.

Question 4

What immunodeficiency features the following features: no good response to vaccines, recurrent infections that develop in 20s and 30s, frequent pneumonia infections.

Answer 4

Combined Variable Immunodeficiency (CVID) = B-cells that DO NOT mature.

Question 5

What immunodeficiency features the following features: small tonsils/lymph nodes and lower levels of B-cells with normal T-cells.

Answer 5

Agammaglobulinemia = X-linked recessive syndrome with intrinsic B-cell mutation from defective Bruton tyrosine kinase.

Question 6

What immunodeficiency features the following features: small platelets, petechiae (small bruises), more bleeding.

Answer 6

Wiskott-Aldrich Syndrome = X-linked defect at WASP gene; low T-cells and normal B-cells

Question 7

What immunodeficiency features the following features: low T-cell count, Ig’s B-cells and failure to thrive in young child.

Answer 7

Severe Combined Immunodeficiency (SCID) = very dangerous disorder marked by an impaired immune system on all fronts.

Question 8

What diagnostic tests are best used to detect T-cell immunodeficiencies?

Answer 8

T-cell subset, CBC, delayed hypersensitivity skin tests (PPD and anergy).

Question 9

What diagnostic tests are best used to detect B-cell immunodeficiencies?

Answer 9

CBC, Quantitative immunoglobulin tests, Pre and post-vaccination titers.
*History is essential.

Question 10

What diagnostic tests are best used to detect complement immunodeficiencies?

Answer 10

1. CH50 total complement levels
2. Individual complement component levels.
   * This is apt to pick up Niesseria and pyogenic infections, as well as autoimmunity.

Question 11

What diagnostic tests are best used to detect phagocytic immunodeficiencies?

Answer 11

1. Peripheral blood smear
2. Neutrophil oxidative index (NOI).
   * This also involves looking for skin abcesses and poor wound healing.

Question 12

List at least 3 warning signs associated with Primary Immunodeficiency.

Answer 12

1. > 4 new ear infections in an infant within one year
2. failure to thrive and develop normally
3. need for IV antibiotics to clear infections

Question 13

What aspects of a disease should be considered for the Index of Suspicion, pertaining to primary immunodeficiencies?

Answer 13

1. Frequency and severity of infections
2. Duration of infections
3. Unusual infectious agents.
4. Poor response to antibiotics.

Question 14

What immunodeficiency features the following: defects that impact end organs from the 3rd and 4th pharyngeal arches.

Answer 14

DiGeorge Syndrome

“Catch-22” = Cleft palate, abnormal face, thymine aplasia, CV defects, hypocalcemia

Question 15

What immunodeficiency features the following: variable T-cell defect (Low CD3/CD4 cells), tiny-red spider veins, increased susceptibility to infections due to a genetic mutation.

Answer 15

Ataxia-telangiectasia = defect in ATM gene resulting in IgA and IgE deficiencies.

Question 16

What immunodeficiency features the following: only IgA being decreased or absent; asymptomatic condition.

Answer 16

Selective IgA Deficiency = most common primary immunodeficiency that may progress into CVID

Question 17

What immunodeficiency features the following: LARGE abnormal granules in neutrophils, melanocytes and hair; recurrent cutaneous infections, mental retardation

Answer 17

Chediak-Higashi Syndrome = rare autosomal recessive disorder

Question 18

DiGeorge Syndrome results in a absence of mature T-cells at thymus-dependent zones. Name 2 examples of these zones in the lymphatic system.

Answer 18

1. Paracortex of Lymph nodes

2. PALS in the white pulp of the spleen