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Severe Combined Immunodeficiency - Coggle Diagram
Severe Combined Immunodeficiency
Testing
CBC
WBC count
RBC count
gives inference about HG sand is teh hematocrit
Hemoglobin
Done by Hemoglobin cyanide spectrophotometer
Hemoglobincynanide is formed which is a colored stable compound
using a spectrometer a beam of a certain wavelength is stricken through the sample
values of absorbance are then com[pared to a standard HiCN with a known hemoglobin concentration
Dilution of sample in potassium ferricyanide and potassium cyanide
Family history
Physical exsmination
genetic testing
Skin test (T-cell function)
Biopsy (bone marrow or lymph node)
Causes:
Gene defects
Examples:
ADA
ADA Deficiency
Purine synthesis pathway
Salvage (preexisting metabolites
mainly occurring in Lymphocytes
1 more item...
De novo (from the scratch)
Results in:
Slowing down the process of DNA replication which is vital for cell division
IL2RG
X-linked SCID
AK2
Reticular Dysgenesis
Definition:
It is a group of rare disorders caused by mutations in different genes involved in the development and function of infection-fighting immune cells.
Other types is
Accquired
e.g. AIDS, leukemia, multiple myeloma
Mode of Inheritence:
Mostly by
Autosomal recessive
Also by:
X-linked recessive
Patients with this disorder:
Loss of both cell-mediated and humoral immunity
T-cell and B-cell areas are absent
Loss of thymic shadow
Loss of germinal centers in lymph nodes
Susceptible to many life-threatening infections
As babies
Thrush
diaper rash
failure to thrive
Definition:
It is the inability to maintain a normal growth pattern in weight, stature, and occasionally in head growth
Cause:
Undernutrition
Inadequate intake
Unable to utilize the nutrients
Increased caloric requirements because of organic disease
Complications:
Developmental delay
Behavioral and cognitive problems throughout childhood
Treatment and Management:
Protective isolation unit
Intravenous Immunoglobins
Hematopoietic Stem Cell Transplantation
post-transplantation
graft-versus-host disease
caused by
graft T cells attaching the host
etiology
HLA mismatch
host immune system cells is suppressed
transplantation of lymphocytes-rich organ
types
acute GvHD
occurs < 3 months
Pruritic or painful maculopapular rash
Hepatic dysfunction:
•Jaundice
•hepatosplenomegaly
Gastrointestinal upest:
•nausea, vomiting, diarrhea,
•cramping abdominal pain
chronic GvHD
occurs > 3 months
Chronic enteritis:
•Abdmonial pain/ weight loss
•Bloody diarrhea
Scleroderma-like and lichenoid skin changes
Bronchiolitis obliterans:
•dyspnea
•Wheezing
•Chronic cough
Hepatic dysfunction: jaundice.
re-immunization
to restore the patient immune system by regaining T & B memory cells
6months post-transplantation
12 months
24 months
LAV can be administered
only inactive vaccine
patient immune system sufficiently restored
Enzyme Replacement Therapy
Gene Therapy
Major Histocompatibility complex (MHC)
Cell surface proteins that is encoded by specific set of genes
Named as (HLA) in humans
Human Leukocyte Antigens
Types
Class 1
HLA-A,B,C
On all nucleated
Class 3
Cytokines
Complement
Class 2
On APC
HLA-DR,DQ,DP
HLA typing?
Used to identify HLA alleles and allele groups
PCR- Sequence Specific Primer
Complement Dependent Cytotoxicity
DNA sequencing
Real Time PCR
PCR-Sequence specific oligonucleotide
Panel Reactive antibody
Solid Phase Bead Based Methods
Functions
1- Binds to proteins derived from pathogen
2- Display on cell surface
3- Recognize by CD4+, CD8+
T lymphocytes
Gene complex
6p21.31
HLA Nomenclature
Common Childhood Infections
Oral Thrush
Caused by candida
Types of candida
Candida albicans
Candida glabrata
Candida tropicalis
Candida parapsilosis
Candida krusei
Symptoms
White patches
Pain
Unpleasant taste
Red mount and throat
Difficulty at eating food or drinking
Treatment by antifungals
Severe thrush
fluconazole (Either tablets or liquid suspension)
Itraconazole (Soultion)
Posaconzaole (solution)
Voriconazole (Vfend)
Amphotericin B (Ambisome)
Caspofungin (Cancidas)
Micafungin (Mycamine)
Mild thrush
clotrimazole lozenges
Nystatin
