MCM 2-26 Immonodeficiency

Question 1

Describe Hyper-IgM syndrome with CD4o ligand deficiency

inheritance pattern?
Gene?
Clinical findings?

Answer 1

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

Question 2

Selective IgA deficiency

inheritence? gene? clinical findings?

Answer 2

unknown

In some cases, TACI

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

Question 3

x linked agammaglobulinemia

Answer 3

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

Question 4

digeorge syndrome

Answer 4

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

Question 5

MHC antigen deficiencies

Answer 5

autosomal recessive

unknown gene

common and opportunistic infections

Question 6

severe combined immunodeficiency

Answer 6

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)

Question 7

Chronic Granulomatous deficiency

Answer 7

x linked or auto recessive

various PHOX genes

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

Question 8

Combined Immmunodeficiency symptoms

Answer 8

failure to thrive, oral thrush, skin rash, diarreah

Question 9

inheritenace of SCIDS?

Answer 9

severe combined immunodeficiency syndrome

75% male
X linked and auto recessive

Question 10

causes of SCIDS?

Answer 10

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

Adenosine deaminanse deficinecy leading to toxic levels of nucleotides

Question 11

SCIDS diagnosis?

Answer 11

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.)

Question 12

treatment of SCIDS

Answer 12

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

Question 13

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

Answer 13

humoral immunodeficiency

Question 14

diagnosis of humor deficiency

Answer 14

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?)

Question 15

cd40 ligand deficiency effect?

Answer 15

unable to activate macrophages, lots of odd and rare infections

Question 16

x-linked agammaglobulinemia

Answer 16

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

Question 17

with humoral deficiency, you are particularly vulnerable to..

Answer 17

encapsulated bacterial pathogens, especially strep pneumoniae

unable to make antibody against them

Question 18

2 types of humoral deficiency

Answer 18

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.

Question 19

cd40 ligand deficiency puts patients at risk for

Answer 19

opportunisitic infections including pneumocystis jirovecci

Question 20

selective IgA deficiency

incidence?
# symptomatic?
associated with?

Answer 20

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

Question 21

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

Answer 21

complement immunodeficiency, especially c8

Question 22

treatment of complement deficicency

Answer 22

first give meningococcal vaccine and antibotic prophalaxis

Question 23

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

Answer 23

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

Question 24

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

Answer 24

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

Question 25

digeorge syndrome

abnormal development of?
genetic cause?
consequence?

Answer 25

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

Question 26

digeorge syndrome

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

Answer 26

invasive and severe viral/fungal disease

thymic transplants

irradiated blood only

gradual imporvement in cellular function over time