Category: generalpediatrics-Allergy And Immunology
Findings: cerebellar ataxia around walking age, telangiectasias, recurrent pneumonia or sinusitis, elevated AFP, increased risk of developing lymphoma or leukemia
Notes: Both B and T cells are deficient, leading to increased risk of developing malignancies.
Question: Which disease is associated with these findings?
Bloom Syndrome
Category: generalpediatrics-Allergy And Immunology
Findings: short stature, telangiectasia, deficient DNA ligase I, CNS abnormalities, no ataxia
Notes: Chromosomal instability disorder but without ataxia.
Breastfeeding
Category: generalpediatrics-Allergy And Immunology
Findings: maternal practice that reduces risk of atopic dermatitis in children
Notes: Breastfeeding for at least 4 months decreases risk of atopic disease including atopic dermatitis, cow milk allergy, and wheezing in early childhood. Restricting maternal diet does NOT help to prevent the development of atopic disease.
Bruton Agammaglobulinemia
Category: generalpediatrics-Allergy And Immunology
Findings: absence of B cells, high T cell counts, absent tonsils, no palpable lymph nodes, recurrent bacterial infections including sepsis and meningitis
Notes: Occurs around 6 months because of B cell deficiency. PCP does not occur here. Treat with life long IVIG and prophylactic antibiotics. Cure with bone marrow transplant. X-linked recessive disorder.
Question: What fits these findings?
C2 Deficiency
Category: generalpediatrics-Allergy And Immunology
Findings: most common complement deficiency, early onset systemic lupus erythematosus, recurrent sinopulmonary infections
CH50
Category: generalpediatrics-Allergy And Immunology
Findings: repeat serious bacterial infections, suspecting problem with complement system
Question: What test or lab do you order for the following?
Chediak-Higashi Syndrome
Category: generalpediatrics-Allergy And Immunology
Findings: neutropenia, neutrophils with giant lysosomal granules, oculocutaneous albinism, frequent pneumonia and skin infections, NK-neutrophil-platelet dysfunction
Notes: Treat with hematopoietic stem cell transplantation.
Question: What fits these findings?
Chronic Granulomatous Disease
Category: generalpediatrics-Allergy And Immunology
Notes: Diagnose with DHR or NBT test. Treat with life long antibiotics, antifungals, and interferon gamma. Commonly involved organisms include Burkholderia, Serratia marcescens, Nocardia, and Staphylococcus aureus.
Question: What fits these findings?
Common Variable Immunodeficiency
Category: generalpediatrics-Allergy And Immunology
Findings: recurrent sinopulmonary infections, diarrhea, deficiency across multiple immunoglobulin classes, chronic lung disease, noncaseating granulomas of liver and spleen
Notes: Most often presents in teenage years and above. Treat with IVIG.
Question: Which disease is associated with these findings?
Cyclic Neutropenia
Category: generalpediatrics-Allergy And Immunology
Findings: lasts about one week each month, monitored with frequent CBCs, self-limiting but may treat with GCSF if patient has infections, prone to oral disease
Diamond-Blackfan Anemia
Category: generalpediatrics-Allergy And Immunology
Notes: B cell deficiencies cause susceptibility to encapsulated organisms. Test for titers for organisms already vaccinated against. B cell deficiencies presents closer to 6 months as maternal antibodies last up to around then.
Question: Which quality do these organisms have in common?
Hyper IgE syndrome
Category: generalpediatrics-Allergy And Immunology
Findings: eosinophilia, eczema, elevated IgE, recurrent sinusitis and pneumonia, abscesses, scoliosis, delayed shedding of primary dentition
Notes: Eczema often seen within first week of life.
Question: Which disease is associated with these findings?
Hyper IgM Syndrome
Category: generalpediatrics-Allergy And Immunology
Findings: lymphocytosis, neutropenia, otitis media, diarrhea, PCP, decreased levels of immunoglobulins other than IgM
Notes: Trouble switching from IgM to IgG due missing signal from T cells to B cells. Low IgG ad IgA. Treat with IVIG and Bactrim for PCP prophylaxis. Excess lymphocytes needed to make up for deficient IgG and may take away from neutrophil production and numbers. Increased risk of autoimmunity and malignancy.
Question: Which disease is associated with these findings?
IgE
Category: generalpediatrics-Allergy And Immunology
Findings: hives, rash, shortness of breath occurring within an hour taking the second dose of a medication
Notes: Sensitization occurs after the first dose of medication and an allergic reaction or anaphylaxis at the second dose.
Question: What immunoglobulin class is associated with these findings?
Leukocyte Adhesion Deficiency
Category: generalpediatrics-Allergy And Immunology
Notes: Normal complement levels are seen in Henoch-Schonlein purpura, IGA nephropathy, RPGN, and HUS
Question: What do these diseases have in common?
Serum Sickness
Category: generalpediatrics-Allergy And Immunology
Findings: arthritis, nephritis, rash within one to two weeks of taking a medication
Notes: May occur with amoxicillin, some cephalosporins, minocycline, or anti-venom. Remove offending agent and treat with antihistamines and NSAIDS for mild symptoms, and steroids for severe symptoms.
Serum Sickness
Category: generalpediatrics-Allergy And Immunology
Findings: reaction begins a week after starting on penicillin, rash, joint pain, muscle aches, nausea
Notes: Type 3 hypersensitivity reaction (immune complexes). Discontinue offending agent.
Severe Combined Immunodeficiency (SCID)
Category: generalpediatrics-Allergy And Immunology
Findings: lymphopenic for age, presents arounds 3 months of age, diarrhea, eczematous rash, absent thymus
Notes: T and B cell deficiency. No lymphadenopathy present. Recurrent viral, bacterial, and fungal effections. Live vaccines contraindicated for these patients. Cure is bone marrow transplant.
Question: Which disease is associated with these findings?
Shwachman-Diamond Syndrome
Category: generalpediatrics-Allergy And Immunology
Notes: Neutrophil defect that mimics cystic fibrosis with pancreatic insufficiency. Increased risk of leukemia and myelodysplastic syndrome.
Question: What fits these findings?
Transient Hypogammaglobulinemia Of Infancy
Category: generalpediatrics-Allergy And Immunology
Findings: low IgG and IgA levels, infection similar to Brutons at three to six months of age, usually outgrown by three to six years of age, normal antibody titers
Notes: Self-resolving and no treatment needed for asymptomatic infants, so some may need antibiotic prophylaxis for recurrent infections that will eventually stop.
Wiskott-Aldrich Syndrome
Category: generalpediatrics-Allergy And Immunology
Findings: small platelets, infections, eczema
Notes: X-linked immunodeficiency, only found in males. Both T and B cells are affected. Low IgM and high IgA. May present with bloody circumcision and otitis media as well. Increased risk of lymphoma later on in life. Cure is bone marrow transplant.