Immunodeficiecy Flashcards
What are the infections that are associated with Agammaglobinemia
- Pyogenic bacterial infection
(Otitis - sinusitis - pneumonia) - Enterovirus due to IgA lack
(Meningoencephalitis)
When do infections start to occur in Agammaglobinemia?
After 4-6 months after decrease in maternal IgG
What is the genetic mutations in Agammaglobinemia?
1- X-linked (Btk gene)
2- Autosomal recessive (mu-chain)
Findings in Agammaglobinemia?
- abnormal Ab response to RBC Ag and routine vaccine
- Flow cytometery: <2% of CD19
- Bone marrow: normal Pre B-cells.
What is the clinical presentation of Agammaglobinemia?
- Small tonsils
- no palpable lymph nodes
What is the commonest type of primary immunodeficiency?
Selective IgA deficiency
Clinical presentation of IgA deficiency:
- Normal
- Recurrent UTI
- GI symptoms (by giardia)
- Autoimmune disease
- Allergies
Levels of IgA, IgG in selective IgA deficiency
IgA: <7mg\dl
IgG: normal levels
What IGs are lost in the hypogammaglobinemia:
IgG (found to have accelerated decrease after 4-6months)
What are the findings of flow cytometery in hypogammaglobinemia
Normal circulating B-cell levels
What is the prognosis of hypogammaglobinemia:
Good prognosis
IgG concentration normalize by age 2-3years
Differentiate between t-cell and b-cell defect
T-cell: appear earlier with broad spectrum and is associated with graft-vs-host disease. “The graft will fight the human”
Pathogens involved in T-cell mediated defect include:
- bacteria (Mycobacterium)
- viruses (CMV, EBV, Varicella, Enterovirus)
- Fungi (Candida, PCP)
- parasite
Treatment of SCID:
Stem cell transplant + enzyme replacement
What is the commonest etiology of SCID
X-linked gamma chain deficiency
IL-2Ry
Diagnosis of SCID requires:
- Lymphopenia
- <20% CD3+
- IgG<150 “not required”
Omenn syndrome commonest genetic mutation is:
Rag1 - Rag2 “autosomal recessive”
What are the clinical mainfestations of omenn syndrome
- Erythroderma
- lymphadenopathy
- Hepatosplenomegaly
- failure to thrive “diarrhea”
- fever
What are the characteristics of wiskott-aldrich syndrome?
1- Eczema
2- thrombocytopenia “small”
3- recurrrent infections
What is the infections that in wiskott aldrich syndrome increase the probability of wiskott aldrich
Pneumocystic jeroveci + Herpes infection
Name the infections that are more likely to happen in neutropenias:
.
What is the feature seen in chediac higashi syndrome microscopy?
.
What is the clinical mainfestations of chediak higashi?
.
What are the warnings signs in primary immunodeficiency
1- Family Hx of 1ary immunodeficency 2- 8 or more ear infections 3- 2 or more (pneumonia, serious sinus infection, months of ab, deep seated infections) 4- failure to thrive 5- recurrent abscess 6- need of IV ab tp clear infections
