Immune Diseases

Question 0

T+B-NK+, clonally restricted T cells, eosinophilia and elevated IgE, failure to thrive

Answer 0

Omenn, mutation in RAG1 or 2 SCID

Question 1

Eczema,, thrombocytopenia purpura, t and B cell deficiency, increased susceptibility to S. aureus infections, and decreased Ig

Answer 1

Wiskott-Aldrich syndrome, non-SCID lymphocyte deficiency due to problem with immune synapse and WAS protein, X-linked

Question 2

Poor coordination, cancer, decreased T cells, Ig levels decreased, B cells normal

Answer 2

Ataxia telangiectasia, autosomal recessive mutation in AT protein, non-SCID lymphocyte disorder, if IgA absent risk of transfusion reaction

Question 3

Heart, thymus defects, low T cell count, B cells normal, Ig absent, opportunistic infections

Answer 3

DiGeorges, deletion on chromosome 22,

Question 4

Minimal B cells/Ig, hemophilus, streptococcus, and staph infections, viral infections

Answer 4

X-linked Bruton’s agammaglobulinemia, mutation of Bruton’s tyrosine kinase on X chromosome, pre-b cell development inhibited

Question 5

Gastrointestinal and respiratory infections,

Answer 5

Selective IgA deficiency

Question 6

IgM elevated, severe respiratory infections, malformed germinal centers

Answer 6

Hyper IgM syndrome, type 1 no CD40L on T cells, type 3 no CD40 on B cells, and type 2 something else

Question 7

Low IgG, low IgA or IgM, decreased B cells, pneumonia, sinusitis, GI infections, age of onset: 1-5 and 15-35

Answer 7

CVID

Question 8

Increased susceptibility to disseminated infection, high WBC, but no intracellular killing

Answer 8

Chronic granulomatous disease, x-linked or autosomal recessive

Question 9

High WBC, increased susceptibility to infection, no chemo taxis

Answer 9

Leukocyte adhesion deficiency, 1: defect in CD18 (LFA), 2: defect in CD15, sial Lewis x, autosomal recessive

Question 10

Decreased NK/T cell function, abnormal granules in granulocytes, bacterial infections

Answer 10

Chediak-Higashi syndrome, auto rec. loss of acidification of endosome, treat with BMT, phagocyte disorder

Question 11

Silvery grey hair, bacterial infections, suppressed DTH responses

Answer 11

Griscelli Syndrome, phagocyte disease

Question 12

Most common phago disorder, bacterial infections common

Answer 12

Myeloperoxidase deficiency

Question 13

Severe viral infections, normal Ab titer, increased NK and gamma/delta T cells, decreased alpha beta

Answer 13

TAP deficiency, Bare Lymphocyte Disease type 1; no class 1 presentation so no CTLS, Tx with early recognition and infection specific Tx, but no BMT or immunosuppression

Question 14

Severe defects in cellular and humoral immunity, normal hypogammaglobulinemia, normal T and B cell numbers, CD4+ reduced,more current infections beginning in first year

Answer 14

Bare lymphocyte syndrome type 2; due to misregulation of expression of class 2 MHC by RFX complex, Tx with BMT

Question 15

Recurrent fevers, hepatomegaly, elevated liver enzymes, elevated acute phase proteins

Answer 15

Proteosome defect, either CANDLE or Nakajo-Nishimura syndrome