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After maternal passive protection has waned
Child with repeated infections with extracellular microbes
1. Chronic granulomatous disease (Imp. for STEP 1) - NADPH oxidase- Catalase positive organisms- Myeloperoxidade def. (not asked)- Staph N Enterobacteriaceae Are Listed Catalase Positive ( Staphylococcus, Nocardia, Enterobacteriaceae, Aspergillus, Listeria, Candida, Pseudomonas)
- Nitroblue tetrazolium dye reduction test negative (positive means the function is normal), Neutrophil oxidative index < 73, Rx IFN- gamma *Rx- treatment*
G6PD deficiency - Anaemic crisis
2. Leukocyte adhesion deficiency- Absence of CD18 from beta 2 integrins- Abscesses or pus, defects of wound healing
3. Chediak - Higashi Syndrome - Defect in LYST or CHS1 gene- Affects synthesis and storage of granules in phagocytes and NK cells
Partial oculocutaneous albinism
4. Hyper IgE Syndrome - Defect in STAT3, affects production of IL- 17,21,22- Eosiniophiloa, eczema, increased IgE, cold abscesses, retained primary teeth- Job Syndrome (not asked)
Child with repeated infections
Increased infections skin and mucosal surfaces
No circulating B cells (CD21/20/19)- pre B level (cell has Mu heavy chains in cytoplasm)- Bruton X-linked Agammaglobulinemia- lack of tyrosin kinase involved in B cell maturation.
Normal T and B cell numbers - Normal to elevated IgM- Hyper IgM syndrome- def. of Cd40L on TH cells
Dec. Ig, incr. Autoimmunity- Diagnosis of exclusion
Selective IgA deficiency- Atopic allergy
Dec. Ig, incr. Autoimmunity - Rx - antibiotics
Selective IgA deficiency- Rx - antibiotics, No immunoglobulins
Compliment deficiencies- extracellular (encapsulated)- All pathways- C5-9 (MAC) - repeated neisserial bacteremias
Immune complex disease- C3 (opsonin)- C1,4,2 (components)
Rx- Fresh frozen, nano- filtered plasma to replace components
Deficiencies of complement regulation
Absence of C1-inh- Decreased C1,4,2 serum- Hereditary angioedema- Rx- Ecallantide, Ruconest- recombinant C1inh
Paroxysmal nocturnal hemoglobinuria - absence of CD55 and CD59- GPI- Morning hemoglobinuria- Rx- Stem cell transplant, Eculizumab( blocks MAC)
Combines partial lymphocyte defects
Wiskott- Aldrich Syndrome - WASp- Cytoskeletal signaling (Q's will be diagnostic)
Male child (X-linked) in first year
Microthrombocytopenia, eczema and recurrent infections - TRIAD
IgM low, IgG normal, IgA and IgE elevated.
Rx- Stem cell transplant
Ataxia Telangiectasia- ATM protein kinase- repair of ds breaks- autosomal recessive - Rx- antibiotics
Ataxia, Telangiectasias (spider like ----eye and pinna), Thymic aplasia, sinopulmonary infections, IgA, low T cell counts.
Defects of T lymphocytes
Decreased T cell numbers of all categories - CD3
Decreased CD8 T cell numbers, increased NK and Gamma Delta T cells
DiGeorge syndrome - 22q11.2DS- Failure of formation of 3rd and 4th pharyngeal pouches
Conotruncal cardiac abn.
Dx- Low TREC detected by PCR (done at birth)
Rx- Thymic transplant, calcium supplementation
Bare lymphocyte syndrome Type 1 - TAP def.
Necrotizing granulomatous skin lesions
Recurrent bacterial inf. of URT
Several viral inf.
Dx- FACS ( fluorescence activated cell sorter)for HLA class I
Rx- Antibiotics and chest physiotherapy
Severe combined immunodef. (SCIDs)
6 month and beyond infant onset, lymphocytopenia
Failures of the Ruebush rule of 2's MHC II> IL-2 (or4)> divide in 2
Bare lymphocyte syndrome type 2, decr. Th cells, no GVH (graft vs host), decr. T- dependant antibodies
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