Iga deficiency

1. Iga deficiency By: Brittni McClellan

2. 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

3. 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

4. Iga deficiency– H&P • Physical Exam: • Sign of Recurrent Infection and Atopy • Allergic Signs: • Cobblestoning of the Conjunctiva (Allergic Shiners) • Allergic Inflammation in the Eyes • Serous Otitis Media • Secondary to Increased Ear Infection and AllergiesPain on palpation of the sinuses: Recurrent sinus • Recurrent Sinus Infections • Pneumonia • Swollen Joints • Secondary to Autoimmune Diseases • Patient History: • Asymptomatic (30%) • Anaphylactic with Blood Transfusions • Frequent Sinopulmonary Infections • Frequent GI Infections • Allergies • Increased Incidence of Autoimmune Diseases

5. 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

6. Iga deficiency– treatment • Medication • There 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 Donors • Autologous Banked Blood

7. Other immunodeficiencies – B cells

8. Other immunodeficiencies – T Cells

9. Other immunodeficiencies - Combined

10. Other immunodeficiencies – Phagocytes

11. NitroBlue test for cgd

12. Other immunodeficiencies - complement

13. 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 spontaneously • Hematopoetic cell transplantation • Intravenous piperacillin-tazobactam • Immune globulin administration • Highly active antiretroviral therapy a) Hematopoetic cell transplantation

14. 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 period • A 4-year-old girl who has had repeated oral candidasis in the past nine months • A 9-month-old boy who has had recurrent otitis media and pneumococcal pneumonia in the past three months • A 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

15. 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 IgA • Increased IgM, decreased IgG, IgA, and IgE • Increased IgE • Increased IgE and IgA, and decreased IgM • Decreased IFN-gamma a) Decreased IgA

16. 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 Agammaglobulinemia • Severe Combined Immunodefiency • Wiskott-Aldrich Syndrome • Primary Eczema • Hyperimmunoglobulin E syndrome c) Wiskott Aldrich