MCM 2-26 Immonodeficiency Flashcards Preview

MSI Unit II > MCM 2-26 Immonodeficiency > Flashcards

Flashcards in MCM 2-26 Immonodeficiency Deck (26)
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1

Describe Hyper-IgM syndrome with CD4o ligand deficiency

inheritance pattern?
Gene?
Clinical findings?

x-linked

Cd40 ligand (CD40L)

similar to X-linked agammaglobulinemia (recurrent pyogenic bacterial sinopulmonary infections), but with higher incidents of
-penumocystis jirovecci pneumonia
-cryptosporidosis
-severe neutropenia
-lymphoid hypoplasia

2

Selective IgA deficiency

inheritence? gene? clinical findings?

unknown

In some cases, TACI

most often asymptomatic
-recurrenent sinopulmonary infections, diarreah, allergies, autoimmune disorders (celiac, IBD, SLE, chronic active hepatitis)

3

x linked agammaglobulinemia

x linked

BTK gene

recurrent sinopulmonary and skin infections during infancy, transient neutropenia, lymphoid hypoplasia

Persistent CNS infections resulting from live-attenuated oral polio vaccine, echoviruses, or coxsackieviruses.

Increased risk of infectious arthritis, bronchiectsis, and cancers

4

digeorge syndrome

autosomal

genes at chromosomal region 22q11.2, and 10p13

unusual faces with low set ears, congenital heart disorder (aortic arch abnormalities), thymic hypoplasisa, herpoparathyroidism, recurrent infections, developmental delay

5

MHC antigen deficiencies

autosomal recessive

unknown gene

common and opportunistic infections

6

severe combined immunodeficiency

autosomal recessive OR x-linked

Jak3, PTPRC (cd45), RAG1, RAG2

oral candidiasis, p.jiovecci pneominia, diarreah before six months old, failure to thrive, GFHD, bone abnormalities, absent thymic shadow, exfoliative dermatitis (OMENN syndrome)

7

Chronic Granulomatous deficiency

x linked or auto recessive

various PHOX genes

granulomatous lesions in lungs, liver, lymph nodes, GI tract.

8

Combined Immmunodeficiency symptoms

failure to thrive, oral thrush, skin rash, diarreah

9

inheritenace of SCIDS?

severe combined immunodeficiency syndrome

75% male
X linked and auto recessive

10

causes of SCIDS?

common IL2 gamma chain defect used by various cytokine receptors for signal transduction

Adenosine deaminanse deficinecy leading to toxic levels of nucleotides

11

SCIDS diagnosis?

complete blood count showing lymphopenia

enumeration of specific lymphocyte subsets

analysis of lymphocyte in response to
1. mitrogens
2. non-self HLA antigens in mixed lymphocyte culture (the patients lymphocytes wont duplicate)
3. specific antigens (vaccines, etc.)

12

treatment of SCIDS

bone marrow transplant, aggressive ABX, immunoglobulin, and antivirals/antifungal treatment

13

9 year old with pnemonia and chronic problems with sinustitis and x-ray showing bronchiectasis

humoral immunodeficiency

14

diagnosis of humor deficiency

b-cell enumeration (CD-19 and/or cd-20)

quantitative immunoglobulin levels
-IgG,A,M
-IgG subclasses
-pre/post vaccine titers
-isohemmaglutinins (do they make antigen against other blood types?)

15

cd40 ligand deficiency effect?

unable to activate macrophages, lots of odd and rare infections

16

x-linked agammaglobulinemia

absence of b-cells due to mutations in bruton's tyrosine kinase

17

with humoral deficiency, you are particularly vulnerable to..

encapsulated bacterial pathogens, especially strep pneumoniae

unable to make antibody against them

18

2 types of humoral deficiency

x-linked agammaglobulinemia - absense of B-cells due to mutation in Bruton's tyrosine Kinase

cd40 ligand deficiency - hypogammaglobulinemia with hyper-IgM. Body keeps creating worthless IgM.

19

cd40 ligand deficiency puts patients at risk for

opportunisitic infections including pneumocystis jirovecci

20

selective IgA deficiency

incidence?
# symptomatic?
associated with?

1:600
2/3 asymptomatic
IgG sublcass 2 deficiency - recurrent sinopulmonary infections, defect in producing antibodies to polysaccharide antigens

21

18 month old hospitalized with fever and rash. Culture grew N.Meningitidis

complement immunodeficiency, especially c8

22

treatment of complement deficicency

first give meningococcal vaccine and antibotic prophalaxis

23

phagocyte deficiency leaves patients susceptive to what type of bacteria? why?

catalase positive bacteria. Phagocytes in this condition are generally unable to create the oxidative burst necessry to kill bacteria. However the levels can rise in the phagocyte in the

24

phagocyte deficiency leaves patients susceptive to what type of bacteria? why?

catalase positive bacteria. Phagocytes in this condition are generally unable to create the oxidative burst necessry to kill bacteria. However the levels can rise in the phagocyte in the prescence of bacteria.

If the bacteria is catalase positive, they are able to break down peroxide. phag cannot clear them

25

digeorge syndrome

abnormal development of?
genetic cause?
consequence?

abnormal embryonic development of 3rd and 4th pharangeal pouches

21q11.2 deletion (VCFS)
congential hypoplasia (variable t-cell numbers and function)
-congenital heart disease
hyypoparathyroidism

26

digeorge syndrome

infection risks?
treatment for severe?
what type of blood product?
prognosis?

invasive and severe viral/fungal disease

thymic transplants

irradiated blood only

gradual imporvement in cellular function over time

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