Examples of immune deficiencies

Question 1

Anatomic

Answer 1

• Right Middle Lobe Syndrome
• Cellulitis
• Kidney Stones
• Foreign Bodies

Question 2

Pure immunoglobulin deficiency state

Answer 2

• X-linked (Btk) agama-globulinemia
• X-linked hyper IgM syndrome (CDL def)
• Individual Ig deficiencies
• X-linked lymphoproliferative disease
• Multiple myeloma – acquired clonal B cell disorder; serum has tons of IgGs specific to epitope
• CLL

Question 3

Complement deficiencies

Answer 3

Individual component:

• Classical pathway – infection with encaps bacteria – Lupus (missing C1,2,4)
• Alternative pathway – meningococcal dz
• Terminal Pathway – meningococcal dz

Question 4

PMN defects

Answer 4

Quantitative: usually predictable, result of chemotherapy

Qualitative

• CGD – no Nox2, oxidative burst
• LAD – impaired diapedesis, extravasation
• MPO deficiency – can’t make ROS
• Chediak-Higashi – large granules, impaired migration

Question 5

RES dysfunction

Answer 5

• Asplenia – congenital or surgical
• Dysfunction – hemoglobinopathies, sickle cell
• Cirrhosis/any liver failure

Question 6

Cell-mediated immune defects

Answer 6

• Adult AIDS
• Post transplant patients on immuno-suppressive Rx’s
• Certain T cell lymphomas and leukemias
• DiGeorge Syndrome
• IL-12 receptor deficiency – lower T cell differentiation
• IFNγ receptor deficiency

Question 7

Combined immunodeficiency syndromes

Answer 7

• X-linked SCID
• SCID (not x-linked) – RAG, Jak3, CD45 gene deficiencies, ADA deficiency
• Ataxia telangiectasia syndrome
• Childhood AIDS