25 Immunodeficiency

Immune

	Cellular	Humoral
Adaptive	T	B and Antibodies
Innate	NK, Mo	Complement

Immune deficiency types:

• B: X linked Agamma, CVID, IgA, hyper-IgM

• T: DiGeorge, HIV

• B and T: SCID, WAS, Ataxia Telangiectasis

• Phagocytosis: CGD, LAD, Chediak Higashi

• Complement: C1E def, angioedema, C5-C9

Demographics

• Age > 6 mo: after maternal Ig gone

• recurrent infections

• severe infections with normal bugs

• unusual pathogens

• FTT with diarrhea

Diagnosis and Treatment

• CBC with diff

• Quantitative IgA, M, G levels

• Disease specific

• Treatment disease specific

B

X-Linked

• aka Bruton's

• path: x-linked, A-Ig-anemia

• pt: boys

• symptoms: sinopulmonary infections at 6 mo. Early in life

• diagnosis

  • CBC: normal

  • Ig: no Ig of any kind

  • flow cyt: no B

  • confirm with RTK gene

• treatment: schedule IVIG, bm transplant

CVID

• path: mild form of Bruton's

• pt: teenager, older

• diagnosis

  • CBC: normal

  • Ig: decreased in some Igs

• treatment: maybe IVIG, no BM transplant

IgA

• path: low IgA

• symptoms

  • Sinopulmonary infections

  • gastroenteritis

  • Asx, anaphylaxis with transfusion

• diagnosis

  • CBC: normal

  • Ig: low IgA, increased G and M

• treatment: watch out for anaphylaxis

Hyper IgM

• Path: can't convert M to G

• symptoms: nonspecific

• diagnosis

  • CBC: normal

  • Ig: low IgG/A, increased IgM

• treatment: nothing. IgM usually enough

T

DiGeorge

• path: 22q11.2. Third pharyngeal pouch

• symptoms

  • PE: wide spaced eyes, low set ears, absent thymic shadow, small face

  • fungi, PCP

• diagnosis

  • clinical

  • CBC: reduced lymphocytes

• treatment: prophylaxis bactrim, IVIG, thymic transplant

• f/u: hypocalcemia (tetany, seizures)

Combined

Wisckott Aldrich

• path: X-linked

• pt: boys

• symptoms

  • Eczema

  • low platelets

  • normal infections

• diagnosis

  • CBC: low WBC, low plt

  • Ig: Increased IgM/G (B cell work harder)

• treatment: bone marrow transplant

Ataxia Telangiectasia

• path: DNA repair

• pt: ataxia, telangiectasia, immunodeficient

• f/u: leukemia, lymphoma

SCID

• path: no immune system, defense, no B or T. ADA def. Mega-AIDS but HIV negative.,

• symptoms: infection on any exposure

• diagnosis

  • CBC: decreased WBC

  • Ig: No IgM, G, A

• treatment: isolate. Bubble baby. Bactrim. Bone marrow transplant

Phagocytosis

CGD

• path: no respiratory burst. Mo can't kill catalase positive

• symptoms: recurrent staph abscesses

• diagnosis:

  • nitro blue

  • CBC: increased WBC

  • increased IgM/G

• treatment: bone marrow transplant

LAD

• Path: WBC can't get out blood

• symptoms: high fever, high leukocyte count, infections without no pus, delayed separation of cord

• treatment: bone marrow transplant

Chediak Higashi

• path: AR

• diagnosis: giant granules in neutrophils

• f/u: association with albinism, neuropathy, neutropenia

Complement

• C1 Esterase: non drug related angioedema

  • give FFP

• Nesseria infection: C5-C9 MAC