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Primary immunodeficiency disorders. Flashcards

1
Q

immunodeficiency can be classified into ?

A

specific immunodeficiency
non specific immunodeficiency

primary and secondary

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2
Q

what is the difference between specific and non specific immunodeficiency ?

A

specific immunodeficiency involve abnormalities of the b and cells of the adaptive immune system

non specific immunodeficiency involves abnormalities in the compliment system , neutrophils and phagocytes which is INNATE immunity

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3
Q

what is the difference between primary and secondary immunodeficiency

A

primary immunodeficiency is related genetics being the sole cause

while secondary immunodeficiency is triggered by environmental causes such as a bacteria

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4
Q

infections encountered in immundefcient patients falls into two categories what are these categories ?

A

patient with defect in antibodies and compliment proteins and phagocytes = susceptible to recurrent infections from capsulated bacteria such as h influenzas , strep yo, staph areas giving pyogenic infections

patient defect in cell mediated immunity from t cells are susceptible to severe life threatening infection from micro-organism which is ubiquitous in the environment = opportunistic infections
such as candida and chicken pox

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5
Q

what are the primary b cell immunodeficiencies ?

A

x linked agammaglobulinemia

Iga deficiency

IgG subclass deficiency

immunodeficiency with increased IgM

common variable immunodeficiency

transient hypogammaglobulinemia of infancy

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6
Q

which gender does x linked (bruton) agammaglobulinemia affect the most

A

males

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7
Q

in x linked agammaglobulinemia when do the signs and symptoms start to appear

A

6-12 month of life because they receive passive immunity from the IgG that crossed the placenta

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8
Q

what is the pathophysiology of x linked bruton agammaglobulinemia

A

the pre b cell do not go into an IMmature b cells so there is NORMAL amount of pre b cell in the bone marrow however absent to few B cells in the blood

this is due to a cytoplasmic bruton tyrosine kinase enzyme defect which is linked to the maturation of the b cells

the defect in the gene is in the LONG arm of the x chromosome

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9
Q

what are the signs of x linked bruton Agamma globulinemia

A

lymphoid hypoplasia - tonsils adenoid no splenomegaly or lymphadenopathy

Present with recurrent pyogenic infections with Streptococcus pneumoniae, Haemophilus influenzae, Mycoplasma pneumoniae
respiratory tract = sinusitis , otitis media and pneumonia ,

meningitis

no viral except :
hepatitis virus
hepatitis 
enterovirus (polio , coxsackie)  = myositis , CNS infections 
echovirus
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10
Q

how do we diagnose x linked gamma globulinemia

A

history of recurrent infection mostly in the respiratory tract and lymphoid hypoplasia

blood test lack of b cells determined by CD19 and CD20 marker
= flow cytometry to show there an no mature b cells circulating
ABSCENCE OF CD19 B CELLS PARTICULARLY

low levells or absent of all antibodies total below 100mg/dl

western blot to show if the Btk protein is expressed

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11
Q

women with an XLA patient in their family should seek what ?

A

genetic counselling

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12
Q

when having x linked hypogammaglobulinemia what should be considered

A

avoid LIVE ATTENUTAED VACCINES scuh as :

polio vaccine should not be administered - for there can be paralyse or fatal CNSinfecions

messes , mumps and rubella

no allergic reactions since no IgE is made

they do not have EBV because no b cells

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13
Q

how can we distinguish from x lined agammaglobulinemia and transient hypogammaglobulineiam

A

natural antibodies to a and b red blood cell and antigens through immunisation is very low in xla whereas normal in transient hypogammaglobulinemia

and normal immunisation action

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14
Q

XLA patienta are more susceptible to ?

A

septic arthritis

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15
Q

the genes for many immunodeficiency are located on which chromosome ?

A

the x chromosome

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16
Q

which is the most common immunodeficiency ?

A

Iga immunodeficiency

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17
Q

who are more susceptible to IgA deficiency

A

predisposition to caucasians

in pedigree of CVID in the family

associated with autoimmune disorders
more common in diabetes type 1
celiac disease associated

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18
Q

what is the clinical presentation of IgA deficiency ?

A

type 3 hypersensitivities - immune complex diseases

IgA antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract

Most people remain healthy never diagnosed

sinopulmonary pyogenic infections and gastrointestinal infections esp - giardiasis

can cause non haemolytic transfuse reactions - because serum antibodies TO IgA NOTED

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19
Q

why are individuals with deficiency to IgA susceptible to pyogenic infections ?

A

20 percent of the IgA deficient people also have deficicny for IgG2 andG4 subclass deficiency = resulting in recurrent pyogenic infections

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20
Q

what is the pathophysiology of IgA deficiency ?

A

NORMLAMOUNT OF B CELLS

change in terminal differentiation of B cells

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21
Q

how do we diagnose IgA deficicny ?

A

diagnosis cannot be made until 4 years of age when the iga levels should come to mature level

less than 5 mg/dl or absence of IgA serum conc and other antibodies are normal

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22
Q

what is the treatment for x linked agammaglobulinemia ?

A

blood pool extracted from thousand of blood donors of intravenous infusion of immunoglobulin IVIg - esp IgG every week for life
attempt at IgG level of 800mg/kg

its not a cure but increase the quality of life and life span generating passive immunity

prophylactic antibiotics - local preferred

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23
Q

IgA immunodeficiency has the chance to evolving into ?

A

CVID

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24
Q

what is the treatment of IgA deficiency ?

A

identification of co morbid condition

prophylactic antibiotics

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25
Q

what can IgA complicate the diagnosis of ?

A

celiac disease - for diagnosis increase in IgA is used

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26
Q

what is the pathophysiology of High IgM deficiency ?

A

patients who are IgG and IgA deficiency and produce large amount go IgM (more than 200mg/dl)

5 types

type 1 - X LINKED - mainly affects boys
t cells cannot tell b cells to switch classes
caused by mutations in the gene that encodes the CD40 ligand which is expressed on activated T-helper

Boys with this syndrome have very low serum concentrations of IgG and IgA, with a usually normal or sometimes elevated concentration of polyclonal IgM;

impaired dull maturation of dendritic cells
IL-2 production of dendritic cells and macrophages impairment

type 2 - autosomal recessive - b cells can’t do genetic recombination to change into heavy chain production cannot switch . intrinsic defect.

type 3 - b cells cannot receive the signal from t cells to switch classes (t cells release the cd40)

4 )

5)

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27
Q

High IgM IMMUNODEFICICNY clinically present with

A

type 1 = significant susceptibility to opportunistic infections

boys symptomatic in 1st or 2nd year of life
may or may not have small tonsils;
usually have no palpable lymph nodes;
often have profound neutropenia
recurrent pyogenic infections = otitis media , sinusius , pneumonia , tonsilitis

MARKED pneumocystitis pneumonia !(pneumocystis jiroveci) - common in infants with hyper IgM - many CD40 disturbance is diagnosed after having pneumocystis pneumonia

verruca vulgaris lesions

cryptosporidum enteritis = failure to thrive , weight loss and diarrhea (only detectable by PCR)
oppurtunitistic = cryptosporadium found in billary tree = disturbed liver function nd scelrosing cholangitis = cirrhosisi = risk of cholangiocarinoma
LIVER DISESE IS VERY COMMON

hepatitis
chronic diarrhea

type 3 is identical

type 2
lymphoid hyperplasia
 are generally older at age at onset, 
do not have susceptibility to P. jiroveci pneumonia
less likely to have neutropenia

Tendency, however, to develop autoimmune and inflammatory disorders, including diabetes mellitus, polyarthritis, autoimmune hepatitis, hemolytic anemia, immune thrombocytopenia, Crohn disease, and chronic uveitis.

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28
Q

what is the problem in high IgM ?

A

from IgM autoantibodies to neutrophils , platelets , and other blood cells and tissue leading to autoimmunity

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29
Q

which tissue are most susceptible in autoimmunity from high IgM

A

GI tract - risk for lymphoproliferatve diseases

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30
Q

how to diagnose hyper IgM?

A

antibody serology = gG, IgA, and IgE are very low
high igm

Type 1
LYMPHNODE HISTOLOGY
= ABORTIVE GERMINAL CENTRE FORMATION WITH SEVERE depletion and phenotypic abnomraltitis in follicular dendritic cells

normal amount of B cells - decreased CD27 memory b cells

decreased antigen specific T cell function even if there is normal amount of T cells.

flow cytometry expression of CD40

type 2
Histologic examination of the enlarged lymph nodes reveals the presence of giant germinal centers filled with highly proliferating B cells

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31
Q

what is the treatment of hyper IgM ? for type 1 and 2

A

type 1 - allogenic hematopoietic cell transplantation early
cannot be controlled by IgG substitiion however IVIgG is still used to prevent

antimicrobial therapy

granulocyte colony stimulating factor = neutropenia

immunosuppressants = autoimmune diseases

type 2
IVIG, as well as good management of infections with antibiotics

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32
Q

IgG SUBCLASS DEFICIENCY can lead to what complication?

A

develop CVID

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33
Q

should IVIG be administered to patients with IgG subclass deficiency

A

no unless they are shown to have a deficiency of antibodies to a broad array of antigens

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34
Q

Common variable immunodeficiency (CVID) is an immune disorder characterized by recurrent infections and low antibody levels, specifically in

A

extremely low IgG, IgM and IgA.

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35
Q

Individuals with CVID lead to agammaglobulinemia when?

A

second or third decade of life

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36
Q

etiology of CVID?

A

higher in caucasians / asians and africa americans

not hereditary but associated with MHC HAPLOTYPES hlab8 and hladr3

after ebv sensitisation

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37
Q

clinical presentation of CVID?

A

Infections mostly affect the respiratory tract (nose, sinuses, bronchi, lungs) and the ears; they can also occur at other sites, such as the eyes, skin and gastrointestinal trac

Bronchiectasis can develop when severe, recurrent pulmonary infections are left untreated.

esp diarrhea - giardia

Patients with CVID often have autoantibody formation
normal-sized or enlarged tonsils = differentiate from xla
and lymph nodes

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38
Q

what are the complicationsof CVID?

A

autoimmune manifestations, e.g. pernicious anemia, autoimmune haemolytic anemia (AHA), idiopathic thrombocytopenic purpura (ITP), psoriasis, vitiligo, rheumatoid arthritis, achloridiya

malignancies, particularly Non-Hodgkin’s lymphoma, and gastric carcinoma, cell lymphoma

CVID enteropathy are similar to those of celiac disease, but don’t respond to a gluten-free diet. blunting of intestinal villi and inflammation, and is usually accompanied by symptoms such as abdominal cramps, diarrhea, constipation and malabsorption and weight loss. before d rule of infection caused enteropathy esp giardiasis lamblia

lymphocytic infiltration of tissues, which can cause enlargement of lymph nodes (lymphadenopathy), of the spleen (splenomegaly) and of the liver (hepatomegaly), as well as the formation of granulomas. In the lung this is known as Granulomatous–lymphocytic interstitial lung disease.

lymphoid interstitial pneumonia

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39
Q

diagnosis of CVID IS MADE WHEN?

A

CVID is diagnosed if:

the person presents with a marked decrease of serum IgG levels (<4.5 g/L or <2 standard deviations below the age-adjusted norms) and a marked decrease below the lower limit of normal for age in at least one of the isotypes IgM or IgA

the person is four years of age or older

the person lacks antibody immune response to protein antigens or immunization.

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40
Q

serum immunoglobulin levels in people with CVID vary greatly. Generally, people can be grouped as follows?

A

no immunoglobulin production, immunoglobulin (Ig) M production only, or both normal IgM and IgG production

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41
Q

other than immunoglobulins what else varies in CVID paints ?

A

B cell numbers are also highly variable. 12% of people have no detectable B cells, 12% have reduced B cells, and 54% are within the normal range

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42
Q

In general, people with CVID display higher frequencies of which b cell ?

A

naive b cell )b cell not exposed to antigen )

lower frequency of cars switched memory b cells , memory b cell ,

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43
Q

CVID Affected individuals typically present with low frequencies of what associated to t cell

A

CD4+, a T-cell marker,

and decreased circulation of regulatory T cells and iNKT cell

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44
Q

how many types of CVID is there

A

6 types

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45
Q

what is the treatment of CVID ?

A

Ig replacement therapy - via intravenous , subcutaneous or Im (not used anymore) every 3/4 weeks

immune suppressants for autoimmune symptoms such as corticosteroids

antibtics to fight of infections

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46
Q

pathophysiology of CVID?

A

b cells that do not function properly and

but fail to receive the proper signal from the t cells and they lack the cd4

47
Q

what is transient hypogammaglobulinemia of infancy ?

A

it is a DEVELOPMENTAL DELAY

decreased serum IgG with or without decreased immunoglobulin A (IgA) and immunoglobulin M (IgM) levels less than 2 standard deviations (SDs) from age-adjusted reference range levels in infants older than 6 months

normal to near-normal antibody responses to protein immunizations is transient hypogammaglobulinemia

48
Q

when do infants begin to synthesises their own IgG and for transient hypogammaglobulinemia of infancy

A

initially protected by antibodies from the mother gig
3 months of age and exponentially increase with production of IgG

some infants there can be delay for as long as 36 months or they do not increase and stay the same - DEVELOMETAL DELAY IN TRANSIENT HYPOGAMMAGLOBULINEMIA

usually increase to the reference range by age 2–6 years

49
Q

what is the half life f the maternal IgG given to infants ?

A

half life of approx 30 days

50
Q

what is th clinical signs and symptoms ?

what is the treatment for transient hypogammaglobulinemia of infancy

A

first show symptoms 6-12 months
frequent ear ins and lung infections
resp tract infection, food allergies and eczema

will resolve without any intervention
but can be given prophylactic antibiotics and antibody infusion because they are still susceptible to infections

51
Q

what is a key distinction of transient hypogammaglobulinemia to other primary deficiencies ?

A

the vaccine response is preserved whereas in others they response is low or absent

52
Q

why does T cell deficicny also lead to humoral deficiency ?

A

since B cells are usually dependant on B cells signalling from Th = combined deficiency

53
Q

what are the primary T cel deficiencies ?

A

severe combined immunodeficiency

MHC class 2 deficiency

DiGeorge anomaly

hereditary ataxia telangiectasia

wiskott aldrich syndrome

54
Q

how is SCID different to XLA?

A

the symptoms of recurrent infections occur early in life rather 6-12 months later . But can be after 6 months

55
Q

what are the clinical manifestation of SCID ?

A

failure to thrive and diaper rash = big signs

recurrent infection resistant to antibiotics for longer than 2 months (alarm)

prolonged diarrhea = rotavirus , bacterial infection of intestines

pneumonia = pneumocystis carina

bronchitis

liver abcess

morbiliform rash

overgrowth of candida albicans in the mouth= having white greyish plaques

no tonsils or lymph node palpation present

omen syndrome - erythroderma /rash
chronic diarrhea 
lymphadenopathy 
eosinophilia
hepatosplenomegaly

INCOMPATIBLE WITH LIFE = USUALLY DIE WITHIN THE FIRST TWO YEARS - unless bone marrow transplant

56
Q

what are the special considerations needs to be taken in SCID?

A

Immunisations with live attenuated vaccines is absolutely contraindicated such as poliovirus or BCG

Affected infants also lack the ability to reject foreign tissue and are therefore at risk for severe or fatal graft-versus-host disease (GVHD) from T lymphocytes in nonirradiated blood products or maternal immunocompetent T cells that crossed the placenta while the infant was in utero.

57
Q

how do we diagnose SCID

A

very few lymphocytes in blood = fewer tham 3000 ml
flow cytometry to quantitate the T, B, and natural killer (NK) cells in the infant

lymphoid tissue(lymph node hypoplasia) few or no lymphocytes

Thymus
fetal appearing thymus - lobules of undifferentiated epithelila cells.
there is endodermal stromal cells but no thymocytes.

lack corticomedullary distinction or Hassall corpuscles

thymus fails to be a lymphoid organ
lymphoid stem cell should generally populate the thymus by 6 week of GESTATION but fails to appear

Both the follicular and the paracortical areas of the spleen are depleted of lymphocytes. Lymph nodes, tonsils, adenoids, and Peyer patches are absent or extremely underdeveloped

can be prenatally since it is inherited disease can check for gene mutations
check for lymphocytes

58
Q

why is SCID more common in males than females

A

SCID is more common in males because 50percent of the SCID cases are caused by a gene mutation in the X chromosome

59
Q

what is the defective gene in SCID?

A

Y chain for IL-2 receptor

also for IL-4 ,7 , 11 , 15

60
Q

WHICH INTERLUEKIN RECEPTOR is important for t cell maturation ? and the NK cells

A

IL-7
incapable of responding to IL-7
which is needed from going to pro - t cells into an immature t cell

Il-15 for Nk cells

61
Q

what are the types of SCID

A

6 types

1)X linked - most common
(lack of t cells , normal b cell , no nk cells)

2) autosomal recessive - most importantly the adenosine deaminase deficiency
(lack of t cells , b cells and NK CELLS) = second most combo

3) purine nucleoside phosphorylase def
(LACK OF T CELLS B CELLS AND nk cells)

4) jak3 intracellular kinase mutton
( lack of t cells , normal b cells and lack of NK cels)

5)Omen syndrome - RAG gene mutation
(lack of t an b cells)
block maturation of lymphocytes

6) bare lymphocyte syndrome
MCH class 2 gene mutation
CD4 t cell maturation i blocked
(lack only t cells)

62
Q

why does these purine degradation enzyme result in SCID ?

A

adenosine deaminase = elevated dATP

purine nucleoside phosphorylase deficiency result int he acumilattion of dGTP

both blocking ribonucleotide reductase = important for DNA synthesis

= toxic to lymphoid cells

63
Q

Adenosine deaminase (ADA) deficiency can be associated with ?

A

pulmonary alveolar proteinosis and chondroosseous dysplasia.

64
Q

what is the treatment of SCID ?

A

hematopoetic bone marrow transplantt from hsitocompatible donor = usually sibling

who do not have a histocompatible sibling = parental marrow which have one identical haplotype

gene therapy =stem cells which are t cell precursors from bone marrow
are grown in a culture in vitro. A functional ADA cDNA is introduced into these lymphocytes using a retroviral vector.

65
Q

what is the complication for bone marrow transplant

A

they will be healed for one year or get acute T cell leukemias

66
Q

what is MHC class 2 deficiency ?

A

failure to express MHC class 2 on antigen presenting cells such as macrophages and b cells

CD4 Th cells depends on the positive MHC 2 class molecules selection in the thymus from immature t cells to mature t cells there fore there is deficiency in CD4 th cells

this leads to deficiency in antibodies aswell

67
Q

what is the inheritance of mhc class 2 deficicny ?

A

autosomal recessive

68
Q

MHC 2 class deficicny shows what type of clinical manifestation

A

Recurrent severe infections. esp gastroinetsinal tract - diarrhea Failure to thrive,
, liver/biliary tract disease Autoimmune cytopenias

69
Q

IL-12 and interferon gamma deficiency leads to what

A

children with genes that does encore IL-12 , the IL-12 receptor which gives T cells to produce interferon gamma are susceptible to get recurrent infections from non pathogenic mycobacteria and sometimes salmonella

70
Q

IL-12 and interferon gamma deficiency are recieved through what type of inheritance

A

autosomal recessive

71
Q

what is the treatment for IL-12 and interferon gamma deficiency

A

interferon y taken

72
Q

what is di george syndrome

A

a congenital defect where the third and 4 the pharyngeal puches do not form properly

the thymic epithelium is delivered from the third pouch and 4 th so is the parathyroid

T cell deficicny varies from how badly the the thymus is affected

73
Q

what are the clinical manifestation of di george syndrome

A 
face 
hypertelorism 
low set of ears -hearing loss 
shorter upper lip phitrum 
feeding problems 
hypernasality - air ges through the nose - soft palateporblems

heart
congeintal heart malformation of aortic arh
tetrallogy of fallot
truncus arteriosusu

hypolase and palsais of thyrid and parathyroid
graves disease
convulsions due to hypocalciema lack of parathyroid hormons

neontal tetany

kidney probelms

rheumatoid arthritis

develpmenat delay

thrombocytopnea - purpura

74
Q

what type of inheritance is di george syndrome

A

autosomal dominant -10 percent

the rest is de novo gene mutation

75
Q

what is the treatment for di george syndrome ?

A

thymus transplantation in complete di george
antibiotics
cardiac surgery
vitmin d and and calcium supplements

can serve to adult hood

76
Q

how do we diagnose di george syndrome ?

A

FISH - 22q11.2 deletion

thyroid parathyroid hormone
x ray of thyroid gland

heart x ray anomaly

77
Q

how is hereditary ataxia telangiectasia inherited ?

A

autosomal recessive

78
Q

what are the clinical signs and symptoms of hereditary ataxia ?

A

infants develop wobbly gait - ataxia at 18 months

difficulty moving their eyes

slurred speech and feeding swallowing problems = dysphagia due to neurological problems that coordinate mouth and pharynx

dilated capillaries - telangiectasia especially over the sclera - 6 years of age

hypoplastic thymus

= develop severe sinus and lung infections= pneumonia , bronchitis
= chronic lung disease

failure to thrive

79
Q

what is the complication of AT?

A

increased risk for lymphomas and leukemias

diabetes in adolescence

80
Q

what is the diagnosis of AT

A

The absence of telangiectasia does not exclude the diagnosis of A–T

thymus is very hypoplastic, exhibits poor organization, and lacks Hassall corpuscles

A–T is usually suspected by the combination of neurologic clinical features (ataxia, abnormal control of eye movement, and postural instability) with telangiectasia and sometimes increased infections

confirmed diagnosis :
Elevated and slowly increasing alpha-fetoprotein levels in serum after 2 years of age

variable t cell deficiency
70 percent alos IgA deficient , IgG2, IgG4 deficiencyImmunodeficiency with low levels of immunoglobulins (especially IgA, IgG subclasses, and IgE)
and low number of lymphocytes in the blood

Chromosomal instability (broken pieces of chromosomes)

Increased sensitivity of cells to x-ray exposure (cells die or develop even more breaks and other damage to chromosomes)

Cerebellar atrophy on MRI scan

finding an absence or deficiency of the ATM protein in cultured blood cells, an absence or deficiency of ATM function (kinase assay), or mutations in both copies of the cell’s ATM gene

81
Q

what is the dd of at

A

Many children are initially misdiagnosed as having cerebral palsy. The diagnosis of A–T may not be made until the preschool years when the neurologic symptoms of impaired gait, hand coordination, speech and eye movement appear or worsen, and the telangiectasia first appear

82
Q

what special consideration regarding cancer should be given AT patients ?

A

When possible, treatment should avoid the use of radiation therapy and chemotherapy drugs that work in a way that is similar to radiation therapy (radiomimetic drugs), as these are particularly toxic for people with A–T

83
Q

treatment of AT ?

A

Vaccines against common bacterial respiratory pathogens such as Hemophilus influenzae, pneumococci and influenza virus (the “flu”) are , even in individuals with low immunoglobulin levels. If the vaccines do not work and the patient continues to have problems with infections, gamma globulin therapy

Antibiotic treatment should also be considered in children with chronic coughs that are productive of mucous, those who do not respond to aggressive pulmonary clearance techniques and in children with muco-purulent secretions from the sinuses or ches

84
Q

what is the inheritance pattern in wiskott aldrich syndrome ?

A

x linked recessive

85
Q

what are thesigns and symptoms of wiskott aldrich ?

A

classic triad of symptoms
1) affected males = abnormal platelets and also thrombocytopenia
thrombocytopenic purpura

2) severe eczema / atopic dermatitis

3) pyogenic Streptococcus pneumoniae , h influenza , niesseria meningitides
and other bacteria having polysaccharide capsules-
otitis media, pneumonia, meningitis, and sepsis.

Later, infections with agents such as P. jiroveci fungi and candida albicans and the

virus = herpesviruses become more frequent.
varicella rooster
cytomegalovirus

bloody diarrhea during infancy

86
Q

what is the pathophysiology of wiskott aldrich syndrome ?

A

and cell mediated immunity gets PROGRESSIVELY WORST

there is defect in WASp protein which helps to reorganise cell cytoskeleton
during collaboration of t cell with b cells the cytoskeleton of t cells reorientates itself to become polarised with the b cells = with does not occur in wiskott aldrich

= this affects all hematopoetic cells

the same cytoskeletal problem occurs in the unusually appearing platelets

and affects macrophages - so they cannot move and pgahocytosie s propery

impaired humoral immune response to polysaccharide antigens, as evidenced by absent or greatly diminished isohemagglutinins, and poor or absent antibody responses after immunization with polysaccharide vaccines

87
Q

how do we diagnose wiskott aldrich syndrome ?

A

fewer microvilli on cell surface of t cells

defective t cells in function- have UNIQUE ABNORMAL APPEARANCE

normal-appearing megakaryocytes but microthrombocytopenia small fewplatelets
= peripheral smear

flow symmetry if WASp protein is produced - but does not identify defect

genetic analysis

clot time increase 
increased IgA , E 
normal IgG 
DECREASED IgM 
!!!!!!!
88
Q

what are the complication of wiskott aldrich syndrome ?

A

EBV-associated malignancies

natURAL KILLER CELLS AND T K CELLS ARE ALSO FECTIVE THERFORE CANNOT KILL CELLS which are not healthy through apoptosis =causing increase for malignancy
= leukemias and lymphoma

regulatory t cells cannot do their job too - causing increase in autoimmune
= idiopathic thrombocytopenia purpura

89
Q

what is the treatment of wiskott aldrich syndrome ?

A

prophylactic antibiotics

platelet infusion

antibody infusion

immunosuppressive

hematopoetic stem cell transplant = curative

use of killed vaccines

90
Q

deficiencies of the classical pathway components are ?

A

c1q, c1r , c1s , c4 , c2

91
Q

deficiencies of the classical pathway components predisposes to ?

A

immune complex diseases such as SLE

92
Q

deficiencies in what components leads to pyogenic infections ?

A

C3 , factor H , factor 1

c3 - opsonization of pyogenic bacteria - coating to aid phagocytosis

93
Q

deficiency in the terminal component C5, C6, C7 , C8 and factor d and properdin in the alternative pathway leads to susceptibility of what

A

n gonorrhea

n meningitis

94
Q

all genetic complement pathways are inherited how ?

A

autosomal recessive

properdin is x linked recessive

95
Q

what are the two genetic defects in phagocytes that lead to severe infections ?

A

chronic granulomatous diseases

leucocyte adhesion deficiency

96
Q

what is the pathophysiology of chronic granulomatous disease ?

A

they are incapable of forming superoxide anions
and hydrogen peroxide after ingestion of microorganism’s

the pathogen remains alive inside the phagocytes - cell mediated response develops ue to persistent microbial antigen = forming granulomas

97
Q

what is the clinical manifestation of chronic granulomatous disease ?

A

pneumonia
lymph node infections - lymphadenitis
abcess in skin , liver

98
Q

how do we diagnose CGD?

A

inability of phagocytes to reduce nitro blue tetrazolium dye after phagocytic stimulus

the dye stays yellow

99
Q

what is the pathophysiology of leukocyte adhesion deficiency

A

receptor of phagocytes to c3bi on opsonised microorganism aid phagocytosis

this receptor - compliment receptor 3 is deficient

defect in also LFA-1 affecting adhesions

100
Q

LAD has clinical signs of hat ?

A

bacterial infections esp mouth and gastrointestinal tract

Delayed separation of the umbilical cord, especially in the presence of omphalitis, and periodontal disease in addition to abcess

101
Q

what are the waring signs for primary immunodeficiency according to history taking?

A

eight or more ear infections in one year

two or more serious sinus infection in one year

two or more pneumonia in one year

deep skin and organ abcess

need for IV antibiotics to clear infections

unusual or opportunistic infections

family history of primary immunodeficiency

102
Q

what are the physical signs which indicate primary immunodeficiency

A

failure to thrive

absent lymph nodes or tonsils

lupus like rash , telangiectasia , dermatomyositis , lupus like rash

ataxia

oral thrush after one year of age

oral ulcers

103
Q

what are the lab tests that needs to be ordered for diagnosing Primmer immune deficiency

A

complete blood count

delayed hypersensitivity with skin test = t cell defects

serum IgG , IgM , IgA

antibodie testing after specific vaccinations = tetanus diphtheria

total haemolytic complement essay = complement immunodeficient

nitro blue tetrazolium test = phagocytic disorders

104
Q

encapsulated bacteria

requires antibody mediated immunity why ?

A

evade phagocytosis by cells of the innate immune system

105
Q

Failure to thrive, diarrhea, failure t thrive malabsorption, and fungal infections suggest what ?

A

T cell immunodeficiency

groth retardation not as striking in b cell defects

106
Q

Recurrent viral infections suggest what

A

T cell or NK cell deficiency

107
Q

Opportunistic infections with organisms such as

Pneumocystis jirovecii suggest ?

A

suggest a T cell disorder, such as severe combined immunodeficiency (SCID), or T cell dysfunction, as in X
linked hyper IgM.

108
Q

deep seated abcess such as staph areas , serrate Martens and aspergillum suggest what ?

A

disorder of neutrophil function, such as chronic granulomatous disease

109
Q

hyper IgE is associated with ?

A

cold abcess
eczema
frequent fractures

110
Q

if the onset of symptoms is in the teens or 20’s that does it suggest

A

CVID

111
Q

Susceptible to graft-versus-host reactions if given unirradiated blood suggest what

A

t cell defects

112
Q

Fatal reactions may occur from live virus or BCG vaccination suggest hat

A

t ell defects

113
Q

what is associated withPoor survival beyond infancy or childhood

A

t cell defects

114
Q

Recurrent bacterial infections with extracellular encapsulated organisms, such as pneumococcus and H. influenzae suggest what ?

A

complement defects

pediatrics (19 decks)

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