Immunology, AUC, Blk 4 Dz

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To which infections would an asplenic patient be susceptible?

ENCAPSULATED bacterial infections

AR, AIRE mutation (for T-cell negative selection), Frequent opportunistic infection (Candida), early onset
could present with dystrophic fingernails and hypoparathyroidism

XLR, FoxP3 mutation - decreased T-reg expression, Tx immumosuppression and HPSC transplant, early onset, boys

AR, CD-18 (LFA-1) mutation, Non-pyogenic infections, weakened inflammatory response, extreme leukocytosis (CBC) with increased neutrophils 2ary to chronic Bact. Inf., early onset w
Test is Rebuck Skin Window

Sialyl Lewis (CD15) mutation, the ligand for E-Selectin (rolling phase)

XL or AR, NADPH Oxidase mutation, defective oxidative burst of phagocytic cells, test Nitroblue tetrazolium (NBT) or Dihydrorhodamine DHR test, opportunistic inf.
catalase expression by bact. Exacerbates symptoms (recurrent infections) Lack of O2 and H2O2

AR, Lysosomal trafficking regulator (LYST) mutation (vesicular transport protein), decreased Actin polymerization and phagocytosis, Partial albinism, neurological abnormalities
seizures, inclusion bodies in neutrophils giant granules (lysosomes), Neutropenia, defects in chemotaxis and degranulation

What types of organisms would be more difficult to kill if there were a deficiency of complement?

__________ is automatically cleaved in circulation (tick over…) which causes opsonization of encapsulated bacteria, allowing for their phagocytosis.

Without this protein only antibodies can opsonize encapsulated bacteria. This is the most serious complement deficiency. Increased risk of infection of Neisseria species… includi

This deficiency causes Herditary Angioedema.

This deficiency causes Paroxysmal nocturnal hemoglobinuria

XL, Bruton's Tyrosine Kinase mutation, No B-Cells beyond the Pre-B-Cell stage… no germinal centers in lymphatic tissue. Ig absent, prone to virus and encapsulated bacteria
mucosal infections, Tx IVIg, no traditional allergies

XL, CD40L mutation, unable to class switch and affinity maturate, T-cell and machrophage abnormalities 2ary to CD40, Tx IVIg and BMT, no germinal centers

AR, AID mutation- activation induced cytidine deaminase, Giant germinal centers, no somatic hypermutation/affinity maturation

frequent sinopulmonary or GI infections, most common primary immunodeficiency, These patients frequently have hyper-allergy syndromes, due to over production of IgE

defective Memory cell differentiation and/or survival. Lack of memory response leads to chronically low antibody titers, and delayed responses to acute illness.LATE ONSET 20s-30s

sporadic mutations are common, 3rd and 4th pharyngeal pouches do not develop, aplasia of thymus and parathyroid glands, hypocalcemia, Tx thymus transplant, diagnoses with FISH

TAP mutation, deficent CD8 Cytotoxic T-Cells, Frequent infections, particularly respiratory infections

AR, Mutations in transcription factors needed for MHC 2 expression, presents with SCID, Tx BMT

SCID mutation associated with Ataxia, accumulation of dGTP, lymphopenia and hypoplastic lymph nodes

AR, SCID mutation that is the most common no T-cell, B-cell, Nk cells

XLR, SCID mutation no T or NK cells, the presence of CD19+ cells but no CD3+ cells or CD56+ cells.

mutations in ADA (adenosine deaminase), PNP (purine nucleoside phosphorylase), Jak3, CD45, CD3.

AR, VDJ recombinase defect… usually Rag 1 or 2 mutations. SCID + Rash (full body usually) + eosinophilia, with deficiency of most other leukocytes. IgE elevated, hyper-allergy.
Tx BMT mostly oligioclonal CD4 cells, no CD19 few CD3

XLR, WASP gene mutation, decreased Actin polymerization (cytoskeletal rearrangement) and T-cell activation, Recurrent infection, Eczema, Thrombocytopenia, deficiency in IgM,
but overproduction of IgA and IgE. , Tx spleenectomy (thrombocytopenia), IVIg, BMT

AR, ATM mutation, decreased activation of P53, Ataxia, Telangiectasia, sensitivity to sunlight (easily causes mutations), frequent hematologic neoplasms (leukemia and lymphoma)

monoclonal IgG hypersecretion, bone pain, hypercalcemia, Malignant expansion of plasma cells, Bence-Jones proteins in urine can cause renal failure, osteolytic lesions

Monoclonal Lymphoblastic Lymphoma, Males, and elderly (2:1 M:F ratio), Anemia, splenomegaly, weight loss, malise, fatigue, VOLUME expansion, hyperviscosity (increased IgM),
No bone pain, no osteolytic lesions, no renal failure

We see a patient with monoclonal IgG or IgM, but bone marrow biopsy, X-ray, and renal function are unremarkable. What’s the most likely diagnosis?

can cause multinucleated giant cell (syncytial cell) formation via fusion of macrophages.

Defect in SH2D1A (SAP= SLAM Associated Protein) This is associated with fatal infection by Epstein– Barr virus and with the development of lymphomas.
Atypical T cell (Downey cell) characteristic of infectious mononucleosis

Streptococcal cell walls stimulate your immune system to make antibodies. When antibodies cross-react with heart tissue, it causes

bacteria or virus immitates RBC antigen, and causes immune system to make anti-RBC antibodies. RBC/antibody complex gets phagocytosed in spleen

Anti-a3 chain of TypeIV collagen IgG in kidney or lung, complement damage or neutrophils come in respiratory or renal failure.
Tx immunosuppressive drugs or plasmapheresis.

CD8 with lots of HLA DR5 damages thyroid cells, autoantigens released and the subsequent reaction of autoantibodies to attack thyroid peroxidase (TPO)l, thyroglobulin (TG)

auto antigens Myelin Basic protein (MBP) and Myelin Oligodendrocyte Glycoprotein (MOG) cause

Autoantigen that causes ___________ is GAD 65 (glutamate decarboxylase 65). Beta-cell-specific CTL activate and Th1 cells make IFNgamma.

What virus can cause Insulin-Dependent Diabetes Mellitus through molecular mimicry of GAD (glutamate decarboxylase 65).

NOD2 mutation, too much Th17, causing lesions in any part of the GI tract. The hypersensitivity that is caused is Type IV, granulomatous reactions.

inflammatory disease of the bowel, but it is only restricted to the rectum/colon region of the GI tract. It is also type II hypersensitivity.

Gliadin binds to HLA DQ2, which stimulates type IV reaction

Anti-IgG Fc IgM antibody. They form immune complexes with the autoantigens (IgG Fc) and get lodged in joints to cause chronic inflammation.
Tx anti-TNF alpha (produced by macrophages for inflammation)

chronic inflammation causes decrease in tears and saliva… so dry nose, mouth, eye, and vagina.

PMN neutrophils adhere normally to endothelial cells due to inflammatory cytokines. C-ANCA causes neutrophil to degranulate (releasing PR3), cell lysis and necrotizing vasculitis

binds to the Rh+ RBC and then, if the RBC binds to a BCR, will activate ITIMS to prevent the plasma cell from making antibodies to the Rh molecule on the RBC.

In contact hypersensitivity, what cytokines mediate the DTH reaction?

Cyclosporine is used to prevent rejections in transplant recipient patients. Its mode of action is to inhibit

anti-desmoglein ab’s Acantholysis is seen on histology Thin, flaccid blisters if ab at dg1 Thick, tough blisters if ab at dg3 IntRAmolecular spreading