Iga deficiency By: Brittni McClellan - PowerPoint Presentation

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Iga deficiency

By: Brittni McClellan

Iga deficiency - description

Description:

Serum IgA <5 mg/

dL

Normal serum IgG and IgM

Patients >1 year

Genetics:

Autosomal Dominant

Abnormalities on Chromosome 18

Associated with HLA-A1, HLA-A2, B8, and Dw3

Iga deficiency - Pathophysiology

Increased incidence of the following:

Atopy

Sinopulmonary infections

GI infections (especially Giardia lamblia)

Crohn disease

Ulcerative colitis

Celiac disease

Autoimmune illnesses:

Arthritis

Lupus

Immune Endocrinopathies

Autoimmune Hematologic Conditions

Chronic Active Hepatitis

Iga deficiency– H&P

Patient History:Asymptomatic (30%)Anaphylactic with Blood TransfusionsFrequent Sinopulmonary InfectionsFrequent GI InfectionsAllergiesIncreased Incidence of Autoimmune Diseases

Physical Exam:Sign of Recurrent Infection and AtopyAllergic Signs:Cobblestoning of the Conjunctiva (Allergic Shiners)Allergic Inflammation in the EyesSerous Otitis MediaSecondary to Increased Ear Infection and AllergiesPain on palpation of the sinuses: Recurrent sinus Recurrent Sinus InfectionsPneumoniaSwollen JointsSecondary to Autoimmune Diseases

Iga deficiency - Diagnosis

Diagnosis:

Normal CBC

Measure Serum IgA Level

:

Deficiency: Serum IgA level is <5 mg/

dL

.

Total Immunoglobulins:

Normal

: Rules Out X-Linked Agammaglobulinemia, Common Variable Immunodeficiency, and Severe Combined Immunodeficiency

Lymphocyte Mitogens:

Normal

: Rules Out Common Variable Immunodeficiency, Severe Combined Immunodeficiency, Ataxia Telangiectasia, DiGeorge Syndrome, and

Nezelof

Syndrome

Iga deficiency– treatment

MedicationThere is no specific drug therapy.Recurrent infections should be treated aggressively with broad-spectrum antibiotics. Antibiotic prophylaxis to prevent recurrent sinopulmonary infections is often indicated.

Patients with IgA deficiency may develop antibodies against IgA in transfused blood products. These patients are at risk for anaphylactic transfusion reactions. To avoid these reactions, these patients may receive: Packed RBCs (only if these cells have been washed 3 times) Plasma Products from IgA-Deficient DonorsAutologous Banked Blood

Other immunodeficiencies – B cells

Bruton’s

X-Linked Agammaglobulinemia

Combined Variable Immunodeficiency

Hyper IgM

Description:

X-Linked - Boys

No Ig in the Blood

Mild

Bruton’s

- Boys

Cannot Convert IgM

 IgG

Presentation:

Immunodeficiency

Sino-Pulmonary Infections

Otitis Media

Pneumococcal Pneumonia

> 6 Months

Immunodeficiency

Sino-Pulmonary Infections

Teenager

Immunodeficiency

Diagnosis:

CBC

: Normal

QIg

: No IgA, IgG, IgM

Flow Cytometry

: No B Cells

CBC:

Normal

QIg

:

Decrease in 2/3 Ig

CBC

: Normal

QIg

:

Increased IgM, Decreased IgG, IgA

Genetics:

BTK Gene

-

-

Treatment:

Immunoglobulins Regularly

Bone Marrow Transplant

Immunoglobulins As Needed

-

Other immunodeficiencies – T Cells

DiGeorge Syndrome

Description:

Third Pharyngeal Pouch Absence

Presentation:

Wide Spaced Eyes

Low Set Ears

Absent Thymic Shadow

Small Face

T-Cell Deficiency: Fungi, PCP Infections

Hypocalcemia (tetany, seizures)

Diagnosis:

CBC

: Reduced Absolute Lymphocyte Count

Clinical Diagnosis

Genetics:

22q11.2 Deletion

Treatment:

TMP-SMX:

PCP Prophylaxis

IvIG

Bridge



Thymic Transplant

Treat Hypocalcemia

(Secondary to Decreased Parathyroid Hormone)

Other immunodeficiencies - Combined

Wiskott

Aldrich

Ataxia Telangiectasia

Severe Combined Immunodeficiency (SCID)

Description:

X-Linked - Boys

Autosomal Recessive

No Immune System at all

Presentation:

Eczema

Low Platelets - Bleeding

Frequent, Normal Infections

Immunodeficiency (IgA)

Ataxia (Cerebellar Defects)

Telangiectasia (Spider Angiomas)

Immunodeficiency - Immediately

Diagnosis:

CBC

: Decreased WBC Count, Low Platelets

QIg

: Increased IgG, IgM

CBC:

Decreased WBC Count

QIg

:

Decreased IgA

CBC

: Decreased WBC Count

QIg

:

No IgM, IgG, or

IggA

Genetics:

WAS Gene

ATM Gene – DNA Repair Enzyme

Autosomal Recessive

Adenosine Deaminase Deficiency

Treatment:

Bone Marrow Transplant

Immunoglobulins As Needed

Risk of Malignancy:

(Leukemia, Lymphoma)

Isolation

TMP-SMX: PCP Prophylaxis

Bone Marrow Transplant

Other immunodeficiencies – Phagocytes

Chronic Granulomatous Disease

Leukocyte Adhesion Deficiency

Chediak

Higashi

Description:

Macrophage Problem

Can Eat Bacteria, but Cannot Kill Catalase + Organisms

No Respiratory Burst

WBCs cannot leave bloodstream and attack infection.

Microtubule Dysfunction

Failure of Phagolysosome Formation

Defective

Melanization

Presentation:

Recurrent Staph Infections

High Fever

High WBC Count

No Pus

Delayed Separate of the Cord

Immunodeficiency - Neutropenia

Albinism

Neuropathy

Diagnosis:

NitroBlue

CBC:

Increased WBC Count

QIg

:

All Elevated

CBC:

Increased WBC Count

Flow Cytometry:

Absence of CD18 on Leukocytes

Peripheral Smear:

Giant Granules in Neutrophils

Eosinophilic-Peroxidase +

Genetics:

NADPH Oxidase Deficiency

X-Linked Recessive

LFA-1 Integrin (CD11a/CD18)

LYST Gene

Autosomal Recessive

Treatment:

Bone Marrow Transplant

Bone Marrow Transplant

Bone Marrow Transplant

NitroBlue test for cgd

Other immunodeficiencies - complement

C1-Esterase Deficiency

C5-C9 MAC Attack

Description:

Upregulated Activation of Kallikrein by Complement System

Increased Bradykinin Activity

MAC Attack Complex Deficiency

Presentation:

Spontaneous, Non-Drug Related Angioedema

Neisseria Infections

Diagnosis:

-

-

Genetics:

-

-

Treatment:

FFP: For Angioedema

C/I: ACE-Is

Treat Infections

Question 1

Two anxious parents bring their 5-month-old male baby to your clinic for evaluation. They report that he has had "continuous" sinus infections for the past several months, has been hospitalized twice for lobar pneumonia, and has chronic diarrhea. Although the patient's vital signs are within normal limits, he is at the 5th percentile for age in both height and weight. Your physical exam reveals oral thrush, tenderness upon maxillary sinus palpation, and absent cervical lymph nodes and tonsils. Which of the following interventions is curative for this patient's condition?

No treatment needed; patient's condition will resolve spontaneouslyHematopoetic cell transplantationIntravenous piperacillin-tazobactamImmune globulin administrationHighly active antiretroviral therapy

a)

Hematopoetic

cell transplantation

Question 1

Which of the following patient presentations seen in a pediatric immunology clinic is most consistent with a diagnosis of Bruton's agammaglobulinemia?

A 15-month-old girl who has had repeated otitis media, pneumonia, and progressive clumsiness since beginning to walk in the past three months A 10-month-old boy who has had recurrent viral infections as well as hypocalcemia during neonatal periodA 4-year-old girl who has had repeated oral candidasis in the past nine monthsA 9-month-old boy who has had recurrent otitis media and pneumococcal pneumonia in the past three monthsA 7-month-old boy who has had recurrent pneumococcal pneumonia, eczema, and easy bruising in the past four months

d) A 9-month-old boy who has had recurrent otitis media and pneumococcal pneumonia in the past three months

Question 1

An 18-year-old male presents to the emergency room after a stab wound. His wound is repaired surgically and he is resuscitated appropriately. Two days later, he is transferred to the floor where he receives a transfusion. He has no prior history of transfusions. Minutes after beginning the transfusion, the patient complains of shortness of breath. Vital signs are temperature 37 degrees Celsius, heart rate 110, blood pressure 90/60, respiratory rate 20, and oxygen saturation of 99% on room air. Physical examination reveals bilateral wheezes. The transfusion is stopped, epinephrine and intravenous fluids are administered, and his vital signs stabilize. You glance at his chart and see that he has a history of recurrent pneumonias and seasonal allergies. If a congenital disorder has increased this patient’s risk of an anaphylactic transfusion reaction, one would expect serum studies to reveal:

Decreased IgAIncreased IgM, decreased IgG, IgA, and IgEIncreased IgEIncreased IgE and IgA, and decreased IgMDecreased IFN-gamma

a) Decreased IgA

Question 1

A 3-year-old boy is brought to the family physician by his parents. They are concerned that he has had multiple nosebleeds in the last 6 months and is always sick compared to other children. During this time period they have also noticed the formation of multiple bruises on his extremities and dry-itching skin on his hands, feet and elbow. On physical exam the physician notes moderate splenomegaly. What is the most likely diagnosis in this child?

X-linked AgammaglobulinemiaSevere Combined ImmunodefiencyWiskott-Aldrich SyndromePrimary EczemaHyperimmunoglobulin E syndrome

c)

Wiskott

Aldrich