Primary and Secondary Immunodeficiencies

Question 1

General clinical signs of immunodeficiencies

Answer 1

-infection; more severe persists longer, frequent recurrences, not responsive to rx

• physical/developmental disorders
• failure to thrive
• does achieve/maintain expected growth

Question 2

How many respiratory infections does a “healthy” child have each year?

Answer 2

4-8 respiratory infections per year (10-12 years of age)

Average duration of infection =8 days»»can have symptoms for nearly one-half year of year.

Question 3

What type of vaccinations should not be given to an immunodeficient child?

Answer 3

live virus vaccines

Question 4

Primary care of child w/ immunodeficiency

Answer 4

• prompt and aggressive treatmenet of infection
• may need prophylactic rx
• if need blood transfusion use irradiated, leukocyte poor, virus free products

Question 5

Laboratory test for Immunodeficiency?

Answer 5

CBC w/ peripheral smear

lymphocyte immunophenotyping

quantitative immunoglobulin

aby titers

protein electrophoresis

Question 6

X-Linked Hypogammaglobulinemia (Burton’s)

• Primary/secondary?
• Type of deficiency
• cause
• SE
• symptoms
• when does this happen in life?
• treatment

Answer 6

• Primary/secondary- primary
• Type of deficiency - B cell
• cause- *aby deficiency, gene mutation encoding *Bruton tyrosine kinase (Btk)
• SE: *low levels of all Igs, absence of b-cells, normal T cell response
• Symptoms- recurrent *pyogenic bacterial infections, failure to thrive, absence of tonsil and cervical lymph nodes in recurrent otitis?
• when does this happen in life? young boys 6mo of age, female carriers are immunocompetent
• treatment- replacement of IgG through IVIG, SCIG (sub cutaneous immunoglobulin)

Question 7

Selective IgA Immunoglobulin Deficiency

• Primary/secondary?
• Type of deficiency
• cause
• SE
• symptoms
• when does this happen in life?
• treatment

Answer 7

• Primary/secondary? Primary
• Type of deficiency- B cell deficient
• cause- inability of b cells to differentiate and mature into *IgA (low levels) secreting plasma cells
• SE- recurrent *sinopulmonary infections, GI, conjunctiva, and respiratory tract infections
• symptoms- 90% are asymptomatic
• when does this happen in life? diagnosis only happens after age 4. Most common in adults,
• treatment- discontinue med causing decreased IgA, none, abx therapy for recurrent infections, should not be treated w/ gamma globulin(anaphylactic hypersensitivity may occur; cross reaction will deplete their already low levels of IgA)

Question 8

Common Variable Immunodeficiency (CVID)

• Primary/secondary?
• Type of deficiency
• cause
• SE
• symptoms
• when does this happen in life?
• treatment

Answer 8

• Primary/secondary?- primary
• Type of deficiency- b cell
• cause- b cells w/ impaired ability to mature cause unknown.
• SE- defective immunoglobulin production, *low serum IgG, IgA, IgM
• symptoms; recurrent *sinopulmonary infections (bronchitis, otitis, TB, fungal)
• when does this happen in life? 2nd and 4th decade in life, 5-7 years between onset of symptoms and diagnosis
• treatment- IVIG or SQIG, abx

Question 9

Important T cell Functions

Answer 9

control viral disease

control fungal disease

provide helper function to b cells for effective humoral response

Question 10

Thymic Aplasia (DiGeorges Syndrome)

• Primary/secondary?
• Type of deficiency
• cause
• SE
• symptoms
• when does this happen in life?
• treatment

Answer 10

• Primary/secondary? Primary
• Type of deficiency- T cell
• cause:heterozygous chromosomal deletion at 22 leading to absence of T cells

-SE; absence of development of thymus, thyroid glands, parathyroid glands
(parts of pharyngeal pouch)
hypoparathyroidism»tetany

• symptoms; cardiac abnormalities, facial abnormalities (low set ears, down-slanting eyes, short philtrum)
• when does this happen in life?- infants early in life
• treatment: immediate tx of cardiac abnormality, thymus transplant, control metabolic abnormalities

Question 11

Severe Combined Immunodeficiency (SCID)

• Primary/secondary?
• Type of deficiency
• cause
• SE
• symptoms
• when does this happen in life?
• treatment

Answer 11

• Primary/secondary?- primary
• Type of deficiency- *B & Tcells (may be defective, low in number, or completely absent)
• cause; group of inherited diseases caused by mutations in different genes crucial in the development of B & T cells, may be x-linked (75%) or autosomal
• SE; absence of normal thymic tissue and other tissues devoid of lymphocytes, Ig levels low, tonsil & lymph nodes absent
• symptoms; failure to thrive, viral and bacterial, fungal, protozoal infections
• when does this happen in life? within 1st year of life, resulting in death usually.
• treatment- DO NOT GIVE LIVE VIRAL VACCINE, isolation in a plastic bubble (main intervention), bone marrrow or cord blood transplant, IVIG, enzyme replacement therapy

Wiskott-Aldrich
Ataxia-Telangiectasia

Question 12

Hereditary Angioedema

• Primary/secondary?
• Type of deficiency
• cause
• SE
• symptoms
• when does this happen in life?
• treatment

Answer 12

• Primary/secondary? Primary
• Type of deficiency- Complement associated deficiency
• cause; lack of c’1 protease inhibitor resulting in too much C1, excess C3a leading to inflamm process»>edma
• SE; often need to be intubated
• symptoms; edema, especially laryngeal
• when does this happen in life?
• treatment; immediate airway assessment (intubation), Human plasma C1 inhibitor, FFP

Question 13

Malnutrition

• Primary/secondary?
• cause
• SE

Answer 13

• Primary/secondary?- secondary
• cause: PEM-Kwashiorkor or Marasmus, leading to decreased Vit. A, C, B12, B6
• SE; decreased T cells, increased NK, normal/increased Igs, decreased Ig response, decreased phagocytic function
• most common immunodeficiency world wide!

Question 14

Infections

• Primary/secondary?
• cause
• SE

Answer 14

-Primary/secondary? secondary

• cause: viral, bacterial
  ex. HIV, Measles, Parasitic Infections

-SE:
HIV- decreased CD4+ T cells,

Measles- diminished Aby production

Parasite: alteration of Mf functions (inhibit chemotaxis and phagocytosis) induction of Tsuppressor cells

Question 15

Cancer 
-Primary/secondary?
-cause
-immunologic abnormalities associated w/ cancer
-

Answer 15

-Primary/secondary?- Secondary

• cause: healthy cells stop functioning and maturing properly
• Immune deficiency may be secondary to chemo, radiation, or cancer

-abnormalities- multiple myeloma: CD4+ t cells decrease, deficits in complement and neutrophil function

Question 16

Renal Disease

• Primary/secondary?
• cause
• SE

Answer 16

• Primary/secondary?- Secondary
• cause: loss of protein resulting in hypogammaglobulinemia
• SE: reduced T cell function and aby production, diminished phagocytosic and neutrophil function

Question 17

Sarcoidosis

• Primary/secondary?
• cause
• SE

Answer 17

• Primary/secondary?- secondary
• cause: multisystem disorder, unknown etiology
• SE: accumulation of T cells, mononuclear phagocytes, pulmonary granulomas\

hypergammaglobulinemia- B cell hyperactivity

-treatment

Question 18

Transplant Recipients

• Primary/secondary?
• cause

Answer 18

• Primary/secondary?- secondary

- cause; taking immunosuppresive drugs such as corticosteroids, macrolides, antimetabolites

Question 19

Diabetes Mellitus

• Primary/secondary?
• Type of deficiency
• cause
• SE
• symptoms

Answer 19

• Primary/secondary?- secondary
• cause: hyperglycemia
• SE: decreased neutrophil function
• symptoms: poor circulation leads to skin ulceration and diminished delivery of neutrophils to site of microbial entry.
• T-lymphocyte mediated hypersensitivity reactions again beta cell antigen.