MCM 2-26 Immonodeficiency Flashcards
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
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)
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
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
MHC antigen deficiencies
autosomal recessive
unknown gene
common and opportunistic infections
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)
Chronic Granulomatous deficiency
x linked or auto recessive
various PHOX genes
granulomatous lesions in lungs, liver, lymph nodes, GI tract.
Combined Immmunodeficiency symptoms
failure to thrive, oral thrush, skin rash, diarreah
inheritenace of SCIDS?
severe combined immunodeficiency syndrome
75% male
X linked and auto recessive
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
SCIDS diagnosis?
complete blood count showing lymphopenia
enumeration of specific lymphocyte subsets
analysis of lymphocyte in response to
- mitrogens
- non-self HLA antigens in mixed lymphocyte culture (the patients lymphocytes wont duplicate)
- specific antigens (vaccines, etc.)
treatment of SCIDS
bone marrow transplant, aggressive ABX, immunoglobulin, and antivirals/antifungal treatment
9 year old with pnemonia and chronic problems with sinustitis and x-ray showing bronchiectasis
humoral immunodeficiency
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?)
cd40 ligand deficiency effect?
unable to activate macrophages, lots of odd and rare infections
x-linked agammaglobulinemia
absence of b-cells due to mutations in bruton’s tyrosine kinase
with humoral deficiency, you are particularly vulnerable to..
encapsulated bacterial pathogens, especially strep pneumoniae
unable to make antibody against them
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.
cd40 ligand deficiency puts patients at risk for
opportunisitic infections including pneumocystis jirovecci
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
18 month old hospitalized with fever and rash. Culture grew N.Meningitidis
complement immunodeficiency, especially c8
treatment of complement deficicency
first give meningococcal vaccine and antibotic prophalaxis
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
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
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
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
