Immunodeficiency Disorders Flashcards by Stacey Hansen

Abscesses, adenitis, severe bacterial infections, poor wound healing and periodontal disease are caused by disorders of these

Phagocytes

How well did you know this?

Not at all

Perfectly

Failure to thrive, severe viral infections, pneumocystis, candida and low TRECs are caused by disorders of these

T cells

How well did you know this?

Not at all

Perfectly

Recurrent sinopulmonary infections, Enteroviral meningoencephalitis, Bronchiectasis and Recurrent gastroenteritis are caused by disorders of these

B cells

How well did you know this?

Not at all

Perfectly

Neisseria, Early-onset Lupus and Encapsulated bacterial infections are caused by disorders of these

Complement

How well did you know this?

Not at all

Perfectly

Disease that characteristically results from complement disorders

Neisseria

How well did you know this?

Not at all

Perfectly

Neisseria is characteristically the result of this type of disorder

Complement

How well did you know this?

Not at all

Perfectly

X linked disorder caused by lack of immunoglobulin due to defective B cell maturation
Defective btk gene prevents Ig gene rearrangement

Bruton X-linked Agammaglobulinemia

How well did you know this?

Not at all

Perfectly

Bruton X-linked Agammaglobulinemia involves a lack of this

Immunoglobulin

How well did you know this?

Not at all

Perfectly

Bruton X-linked Agammaglobulinemia involves a lack of immunoglobulin due to defective this

Defective B cell maturation
Due to defect btk gene (bruton tyrosine kinase) that prevents Ig gene rearrangement

How well did you know this?

Not at all

Perfectly

In Bruton X-linked Agammaglobulinemia, B cell maturation stops at this stage

Pre-B stage
So very low B cells circulating in blood since this stage occurs in the bone marrow

How well did you know this?

Not at all

Perfectly

What age does Bruton X-linked Agammaglobulinemia present?

After 6 months of age, some as late as teens
(protected from birth to 6 months due to passive immunity from mother)

How well did you know this?

Not at all

Perfectly

Condition that is vulnerable to live vaccines

Bruton X-linked Agammaglobulinemia

How well did you know this?

Not at all

Perfectly

Bruton X-linked Agammaglobulinemia patients are vulnerable to this type of vaccine

Live vaccines

How well did you know this?

Not at all

Perfectly

Does Bruton X-linked Agammaglobulinemia affect cell-mediated immunity?

No; cell-mediated immunity is intact
Still resistant to protozoal, fungal, intracellular virus

How well did you know this?

Not at all

Perfectly

Laboratory values of antibodies in Bruton X-linked Agammaglobulinemia

No/low antibodies of all classes

How well did you know this?

Not at all

Perfectly

Laboratory values of B cells in Bruton X-linked Agammaglobulinemia

No/low B cells in peripheral blood

How well did you know this?

Not at all

Perfectly

Laboratory values of T cells in Bruton X-linked Agammaglobulinemia

High/normal T cells in peripheral blood

How well did you know this?

Not at all

Perfectly

Recurrent mucosal infections (otitis, sinusitis, bronchitis), Pyoderma, meningitis, sepsis, some viral infections (hepatitis, enterovirus, polio), and lymphoid hypoplasia (tonsils, lymph nodes) are clinical symptoms of this condition

Bruton X-linked Agammaglobulinemia

How well did you know this?

Not at all

Perfectly

Condition caused by an inability to produce IgA
Very common in Europeans

Selective IgA deficiency

How well did you know this?

Not at all

Perfectly

Laboratory values of B cells in Selective IgA deficiency

Normal

How well did you know this?

Not at all

Perfectly

Laboratory values of Ig classes that are not IgA in Selective IgA deficiency

Normal

How well did you know this?

Not at all

Perfectly

Laboratory values of IgA in Selective IgA deficiency

Low

How well did you know this?

Not at all

Perfectly

Condition caused by impaired differentiation of naive B cells that causes impaired class switching to IgA plasma cells

Selective IgA deficiency

How well did you know this?

Not at all

Perfectly

Selective IgA deficiency is common in people of this descent

European
Less common in Asia/Africa

How well did you know this?

Not at all

Perfectly

Usual clinical symptoms of Selective IgA deficiency

Usually asymptomatic

Usually asymptomatic, increased respiratory, GI, GU infections, increased rates of allergy and autoimmune disorders, risk of anaphylaxis with blood products

Selective IgA deficiency

Patients with Selective IgA deficiency have risk of this with blood products

Anaphylaxis

Condition involving defective humoral immunity due to defective class switching

Hyper-IgM Syndrome

Two mechanisms that may cause Hyper-IgM Syndrome

Defective CD40L on CD4 T cell (X-linked) CD40 or genes on B cell, macrophage, DC

Levels of immunoglobulins in Hyper-IgM Syndrome caused by defective CD40L on CD4 T cell

Normal IgM Very low IgG and IgA

Levels of immunoglobulins in Hyper-IgM Syndrome caused by CD40 or genes on B cell, macrophage, DC

High polyclonal IgM Very low IgA and IgG

Inheritance pattern of Hyper-IgM Syndrome caused by defective CD40L on CD4 T cell

X-linked

Inheritance pattern of Hyper-IgM Syndrome caused by CD40 or genes on B cell, macrophage, DC

Autosomal Recessive

Defective CD40L on CD4 T cell or CD40 or genes on B cell, macrophage, DC can cause this syndrome

Hyper-IgM Syndrome

Condition characterized by normal/increased IgM with low/absent IgG, IgA, IgE

Hyper-IgM Syndrome

Hyper-IgM Syndrome most commonly has this inheritance pattern

X-linked

Lymphoid counts in Hyper-IgM Syndrome

Normal Absent germinal centers

State of germinal centers in Hyper-IgM Syndrome

Absent

2 treatments for Hyper-IgM Syndrome

IVIG Bone marrow transplant

Recurrent pyogenic infections due to decreased opsonization, pneumocystis or Histoplasma pneumonia (due to macrophage dysfunction), and Cryptosporidium enteritis are clinical symptoms of this condition

Hyper-IgM Syndrome

Condition characterized by normal B cell numbers but no plasma cells All Ig classes affected

Common variable immune deficiency

Onset of Common variable immune deficiency

Late childhood/teen onset

Recurrent sinopulmonary infections, meningoencephalitis, diarrheal illnesses (Giardia commonly), often with splenomegaly and lymphadenopathy are clinical symptoms of this condition

Common variable immune deficiency

Numbers of B cells in Common variable immune deficiency

Normal (no B cell differentiation so no plasma cells)

Number of plasma cells in Common variable immune deficiency

None Normal B cell numbers but no B cell differentiation

Splenomegaly and lymphadenopathy are characteristic of this syndrome

Common variable immune deficiency B cell proliferation but no plasma cell differentiation

Condition characterized by B cell proliferation but no plasma cell differentiation

Common variable immune deficiency

Condition involving defective T cell function due to thymic hypo/aplasia

DiGeorge Syndrome

DiGeorge Syndrome involves anomalies of these pharyngeal pouches

3rd and 4th

Condition characterized by cardiac anomaly, parathyroid and hypocalcemia, thymic hypoplasia (T cell deficiency), abnormal face (micrognathia, slanted ears and eyes, cleft palate), and opportunistic infections

DiGeorge Syndrome

Micrognathia, slanted ears and eyes, and cleft palate are characteristic facial abnormalities of this condition

DiGeorge Syndrome

Hypocalcemia is characteristic of this condition

DiGeorge Syndrome

Thymic hypoplasia that leads to mild T cell deficiency (tends to improve) or Thymic aplasia that leads to severe T cell deficiency is characteristic of this condition

DiGeorge Syndrome

5 characteristic effects of DiGeorge Syndrome

CATCH-22 Cardiac (especially aortic arch, ASD, VSD) Abnormal face (micrognathia, slanted ears and eyes, cleft palate) Thymic hypoplasia (T cell deficiency) Cleft Palate Hypocalcemia (parathyroid)

Hereditary immunodeficiency due to defective cell mediated and humoral immunity

Severe combined immunodeficiency

X-linked form of Severe combined immunodeficiency

Mutation of gamma chain of interleukin receptor (IL-2, 4, 7, 9, 15) Result: absent T cell maturation in thymus (IL-7 mediated)

Autosomal recessive form of Severe combined immunodeficiency

Mostly adenosine deaminase deficiency Result: DNA synthesis inhibition, especially affects lymphocyte proliferation and gene rearrangements

Prognosis of Severe combined immunodeficiency

Death by 1 year

Form of Severe combined immunodeficiency that involves a mutation of gamma chain of interleukin receptor (IL-2, 4, 7, 9, 15)

X linked

Form of Severe combined immunodeficiency that is mostly adenosine deaminase deficiency

Auto recessive

Form of Severe combined immunodeficiency that results in absent T cell maturation in thymus

X linked

Form of Severe combined immunodeficiency that results in DNA synthesis inhibition, especially affects lymphocyte proliferation and gene rearrangements

Auto recessive

Treatment for Severe combined immunodeficiency

Bone marrow transplant

Condition characterized by frequent infections in early infancy and often develop graft vs host disease

Severe combined immunodeficiency

Condition where attenuated vaccines cause productive infections

Severe combined immunodeficiency

In Severe combined immunodeficiency, this type of vaccine leads to productive infections

Attenuated

Condition characterized by very low lymphocyte numbers Small thymus with no lymphocytes or Hassal's corpuscles

Severe combined immunodeficiency

Small thymus with no lymphocytes or Hassal's corpuscles is characteristic of this condition

Severe combined immunodeficiency

X-linked condition caused by a defect in WASP gene product

Wiskott-Aldrich syndrome

What causes Wiskott-Alrich syndrome?

X-linked defect in WASP gene product

T cell counts in Wiskott-Aldrich syndrome

Low (defective T cell survival)

Wiskott-Aldrich syndrome leads to defective survival of these

T cells

State of the thymus in Severe combined immunodeficiency?

Small With no lymphocytes or Hassal's corpuscles

State of the thymus in Wiskott-Aldrich syndrome

Normal at birth, early atrophy

Levels of IgM in Wiskott-Aldrich syndrome

Low

Levels of IgG in Wiskott-Aldrich syndrome

Normal

Levels of IgE and IgA in Wiskott-Aldrich syndrome

Both high

Levels of Antibodies (IgM, IgG, IgE, IgA) in Wiskott-Aldrich syndrome

Low IgM Normal IgG High IgE and IgA

Immunodeficiency, thrombocytopenia, and atopic dermatitis is a triad characteristic of this condition

Wiskott-Aldrich syndrome

Triad characteristic of Wiskott-Aldrich syndrome

Immunodeficiency (frequent infections with encapsulated bacteria) Thrombocytopenia (bleeding disorder) Atopic dermatitis

Prognosis of Wiskott-Aldrich syndrome

Early death without stem cell treatment

Condition involving an autosomal recessive defective DNA repair enzyme ATM

Ataxia-Telangiectasia

What causes Ataxia-Telangiectasia?

Autosomal recessive defective DNA repair enzyme ATM

Inheritance pattern of Wiskott-Aldrich syndrome

X-linked

Inheritance pattern of Ataxia-Telangiectasia

Autosomal recessive

Progressive ataxia (with other neurologic deficits), Oculocutaneous Telangiectasis, and Immunodeficiency (due to defective Ig rearrangement) is a triad characteristic of this condition

Ataxia-Telangiectasia

Triad characteristic of Ataxia-Telangiectasia

Progressive ataxis Oculocutaneous Telangiectasis Immunodeficiency

Levels of immunoglobulins in Ataxia-Telangiectasia

Low

Treatment for Ataxia-Telangiectasia

IVIG

Persistence of this in C1 Inhibitor Deficiency (aka hereditary angioedema) leads to recurrent episodes of edema

Bradykinin

C1 inhibitor inhibits C1r and C1s, as well as these other two molecules

Bradykinin Hagemann Factor

In C1 Inhibitor Deficiency (aka hereditary angioedema), this type of involvement may be fatal

Laryngeal

Condition characterized by edema of skin, genitals, intestinal tract, larynx, others Non-painful, non-pruritic, non-pitting

C1 Inhibitor Deficiency (aka hereditary angioedema)

Immunodeficiency involving lymphoid hypoplasia

Bruton X-linked Agammaglobulinemia

Immunodeficiency involving recurrent mucosal infections (otitis, sinusitis, bronchitis)

Bruton X-linked Agammaglobulinemia

Immunodeficiency that may have increased respiratory, GI, GU infections (Giardia especially)

Selective IgA deficiency

Immunodeficiency with increased rates of allergy and autoimmune disorders (SLE and RA especially, Celiac disease)

Selective IgA deficiency

Immunodeficiency involving recurrent pyogenic infections due to decreased opsonization

Hyper-IgM syndrome

Immunodeficiency with Recurrent sinopulmonary infections common, Meningoencephalitis, Diarrheal illnesses (Giardia commonly)

Common variable immune deficiency

T cell counts in DiGeorge syndrome

Low

Ig levels in DiGeorge syndrome

Normal

Patients with this have GVHD risk with blood transfusion

DiGeorge syndrome

Immunodeficiency characterized by frequent infections in early infancy

Severe combined immunodeficiency

Patient with Ataxia-Telangiectasia have increased tumorigenesis, especially this

Lymphomas