Allergy And Immunology

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common presentation for kids with SCID

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chronic lung infections, diarrhea and FTT

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issue with RSV in kids with SCID

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can cause giant cell PNA

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Most common form of SCID

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X-linked (T-, NK-)

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mutation in x-linked scid

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cytokine receptor subunit gamma-chain

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rx for x-link scid

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BMT will restore T-cell fxn but not b-cell fxn, so IVIG is necessary.

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2 purine salvage disorders that manifest as SCID

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adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency

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immune cells affected by ADA deficiency

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both T and B cells

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inheritance of ADA and PNP deficiency

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both AR

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function of adenosine deaminase

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catalyzes deamination of adenosine and deoxyadenosine to inosine and deoxyinosine. If lesioned, deoxyadenosine and dATP accumulate, which are toxic

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usual presentation of ADA deficiency

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recurrent infection, profound lymphopenia and hypogammaglobulinemia within months of birth

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common secondary finding with ADA deficiency

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skeletal abnormalities like cupping and flaring of the costocondral jxns and pelvic dysplasia

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rx for ADA deficiency

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BMT or enzyme replacement (PEG-ADA)

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common presentation of purine nucleoside phosphorylase deficiency

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immune deficiency and autoimmune diseases (like hemolytic anemia and thrombocytopenia) as well as neurologic problems

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most severe form of SCID

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RAG deficiency

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nature of genetic lesion in RAG deficiency

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mutation or deletion of the recombination activating genes

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cell lines affected in RAG deficiency

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T-, B- but NK+

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rx for RAG deficiency

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BMT

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nature of problem with reticular dysgenesis

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lymphoid and myeloid lines fail to develop properly but erythroid and megakaryocytic lines develop fine

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rx for reticular dysgenesis

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BMT

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nature of Omenn syndrome

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partial inactivation of RAG1 or RAG2 genes

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presentation of Omenn syndrome

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erythroderma, diarrhea, hepatosplenomegaly, and FTT

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lab findings in kids with Omenn syndrome

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hypogammaglobulinemia, elevated IgE, marked eosinophilia, depleted/absent B cells and only Th2 T cells.

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nature of Bare Lymphocyte Syndrome (SCID with MHC II deficiency)

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AR, failure to express MHC type II

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common presentation of Bare Lymphocyte syndrome

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chronic diarrhea, recurrent, severe viral infections

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rx for Bare Lymphocyte Syndrome

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BMT, but thymocyte selection still doesn't work properly

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rx for SCID due to lymphokine deficiency

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give IL-2

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Ig profile for hyper-IgM syndrome

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low IgG and IgA, normal or high IgM

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inheritance of hyper-IgM syndrome

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XL or AR

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genetic lesion in XL hyper-IgM syndrome

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loss of CD40 ligand (thereby lesioning T-to-B cell signalling and causing problems for Ig class switching)

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molecular defect in AR hyper IgM syndrome

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CD40 or some other molecule

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diseases to which kids with hyper-IgM syndrome are more vulnerable

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bacterial infections, recurrent sinopulmonary infections with encapsulated bacteria, giardiasis and bacterial and viral meningitis as well as PCP pneumonia

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hematologic problem to which kids with hyper IgM are susceptible

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chronic parvovirus infection with red cell aplasia

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common PE findings in hyper IgM syndrome

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enlarged cervical LNs and hepatoplenomegaly

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rx for hyper-IgM disease

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PCP prophylaxis, IVIG, BMT for XL disease

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rx for DiGeorge syndrome

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thymic transplant (for “complete” DiGeorge), IVIG

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components of Ataxia-Telagiectasia

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cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency and increased rate of cancer

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molecular defect in ataxia-telangiectasia

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ATM protein, responsible for DNA repair

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carrier rate of ATM lesion in U.S. Caucasians

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2.00%

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issue with ATM lesion carrier status

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increases risk for malignancy but no other clinical manifestations

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usual presentation of AT syndrome

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ataxia by age 5, telangiectasias in bulbar conjunctivae (also around age 5), then in ears, neck, antecubital fossae. Endocrine abnormalities (esp DM) are common

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lab findings in kids with ataxia-telangiectasia

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elevated alpha1-fetoprotein and CEA

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infectious problems common to kids with ataxia-telangiectasia

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sinopulmonary disease and bronchiectasis

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T cell problems in kids with ataxia-telangiectasia

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cells do not react to mitogens, delayed hypersensitivity is not present

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b cell dysfunction in kids with ataxia-telangiectasia

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IgA and IgE are low, IgG2 and IgG4 are low.

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oncologic problem for kids with ataxia-telangiectasia

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prone to lymphocytic leukemia or lymphomas. Minimize xrays in these patients.