Pediatrics: Immunodeficiencies Flashcards
Bruton’s congenital agammaglobulinemia
An X-linked recessive B cell deficiency (symptoms begin after 6 months).
Life threatening encapsulated infections.
Diagnose with immunoglobulin levels and treat with prophylactic antibiotics and IVIG. Absent tonsils and other lymphoid tissue can be common.
Common variable immunodeficiency (CVID)
Usually a combined B and T cell defect. All Ig levels are low with a normal B cell number (but decreased plasma cells). Usually presents later in life.
Pyogenic upper and lower respiratory infections. Increased risk of lymphoma and autoimmune disease.
Diagnosis with immunoglobulin levels and treat with IVIG.
IgA deficiency
Mild. Most common immunodeficiency.
Usually asymptomatic. May develop recurrent respiratory of GI infections (Giardia).
Anaphylactic transfusion reaction.
Diagnosis with IgA levels and treat infections. Do not give IVIG.
Thymic aplasia (DiGeorge)
CATCH22. Presents with tetany secondary to hypocalcemia in the first days of life
Increased infections with viruses, fungi, and PCP.
Diagnosis with absolute lymphocyte count. Treat with bone marrow transplantation and IVIG. Also PCP prophylaxis.
Ataxia-telangiectasia
Combined disorder (B and T cells). Progressive cerebellar ataxia and oculocutaneous telangiectasias caused by a DNA repair defect
Increased risk of malignancies
No specific treatment. May require IVIG
Severe combined immunodeficiency (SCID)
Severe lack of B and T cells due to a defect in stem cell maturation (usually adenosine deaminase). Bubble boy disease.
Severe, frequent bacterial infections, candidiasis, and opportunistic infections.
Treat with bone marrow or stem cell transplanation and IVIG for antibody deficiency. PCP prophylaxis
Wiskott-Aldrich syndrome
Combined disorder. X-linked recessive. Symptoms at birth, increased IgE/IgA, decreased IgM, and thrombocytopenia. Bleeding, eczema, and recurrent otitis media.
Increased risk of atopic disorders, lymphoma/leukemia, and infection from encapsulated organisms (decreased IgM)
IVIG and antibiotics. Patients rarely survive to adulthood. Can be treated with bone marrow transplanation (not curative though)
Chronic granulomatous disease
X linked or autosomal recessive. Deficient superoxide production. Anemia, lymphadenopathy, and hypergammaglobulinemia may be present.
Chronic infections with catalase + organisms. May have granulomas of the skin and GI/GU tracts.
Diagnosis with nitroblue tetrazolium test and ANC. Treat with bactrim daily.
Leukocyte adhesion deficiency
A defect of chemotaxis
Recurrent skin, mucosal, and pulmonary infections. May present as omphalitis or delayed separation of the umbilical cords.
No pus with minimal inflammation in wounds. High WBCs in blood. Bone marrow transplantation is curative
Chediask-Higashi
Autosomal recessive disorder that leads to a defect in neutrophil chemotaxis/microtubule polymerization. Syndrome includes partial oculocutaneous albinism, peripheral neuropathy, and neutropenia.
Increased pyogenic infections with strep, staph, and pseudomonas
Giant granules in neutrophils. Treat with BMT
Job’s syndrome
A defect in neutrophil chemotaxis. Coarse facies, abscesses, retained primary teeth, hyper IgE, severe eczema.
Recurrent S aureus infections and abscesses
Treat with penicillinase resistant antibiotics and IVIG
C1 esterase deficiency (hereditary angioedema)
Autosomal dominant disorder with recurrent episodes of angioedema provoked by stress or trauma.
Give C1 esterase and FFP prior to surgery
Terminal complement deficiency (C5-C9)
Inability to form MAC.
recurrent neissera infections.
Give meningococcal vaccine and appropriate antibiotics (prophylaxis? not sure)
