Immunodeficiencies part1 | Immunology | First Aid Lectures | lec27 #drjamillectures#drjameellectures
Channel: Dr. Jamil Lectures
Date: 16/04/2022

In this lecture we will discuss about immunodeficiencies like  X linked             ( Bruton) agammaglobulinemia ,selective IgA deficiency , common variable immunodeficiency ,Thymic aplasia,interleukin 12 receptor deficiency,autosomal dominant hyper IgE syndrome (Job syndrome ) and chronic mucocutaneous candidiasis.


https://youtu.be/JXEc9imEoao
https://youtu.be/ZQFOLdoc_W4
https://youtu.be/aP06bUvyqCA


Instagram account  dr_jamil56


X-linked (Bruton) agammaglobulinemia
Defect in BTK, a tyrosine kinase gene so no B-cell maturation; X-linked recessive (greater in Boys)
Recurrent bacterial and enteroviral infections after 6 months (decrease maternal IgG)
Absent B cells in peripheral blood, decrease Ig of all classes.Absent/scanty lymph nodes and tonsils (1° follicles and germinal centers absent)  live vaccines contraindicated
Selective IgA deficiency
Cause unknown Most common 1° immunodeficiency
Majority AsymptomaticCan see Airway and GI infections, Autoimmune 
disease, Atopy, Anaphylaxis to IgA-containing products
decrease IgA with normal IgG, IgM 
levels increase  susceptibility to giardiasis Can cause false-positive β-hCG 
test
Common variable immunodeficiency
Defect in B-cell differentiation. Cause unknown in most cases
May present in childhood but usually diagnosed after puberty
Increase  risk of autoimmune disease, bronchiectasis, lymphoma, sinopulmonary infections
Decrease  plasma cells, 
Dcrease immunoglobulins
Thymic aplasia
22q11 microdeletion; failure 
to develop 3rd and 4th 
pharyngeal pouches  absent 
thymus and parathyroids
DiGeorge syndrome—thymic, 
parathyroid, cardiac defects
Velocardiofacial syndrome—
palate, facial, cardiac defectsCATCH-22: Cardiac defects 
(conotruncal abnormalities 
[eg, tetralogy of Fallot, truncus 
arteriosus]), Abnormal facies, 
Thymic hypoplasia  T-cell 
deficiency (recurrent viral/
fungal infections), Cleft 
palate, Hypocalcemia 2° to 
parathyroid aplasia  tetany
 T cells,  PTH,  Ca2+
Thymic shadow absent on 
CXR
IL-12 receptor 
deficiency
 Th1 response; autosomal 
recessive
Disseminated mycobacterial 
and fungal infections; may 
present after administration of 
BCG vaccine
 IFN-γ
Most common cause of 
Mendelian susceptibility 
to mycobacterial diseases 
(MSMD
Autosomal dominant 
hyper-IgE syndrome 
(Job syndrome)
Deficiency of Th17 cells due to 
STAT3 mutation  impaired 
recruitment of neutrophils to 
sites of infection
Cold (noninflamed) 
staphylococcal Abscesses, 
retained Baby teeth, Coarse 
facies, Dermatologic problems 
(eczema),  IgE, bone 
Fractures from minor trauma
 IgE
 eosinophils
Learn the ABCDEF’s to get a 
Job! Chronic 
mucocutaneous 
candidiasis
T-cell dysfunction
Impaired cell-mediated 
immunity against Candida sp
Classic form caused by defects 
in AIR
Persistent noninvasive Candida 
albicans infections of skin and 
mucous membranes
Absent in vitro T-cell 
proliferation in response to 
Candida antigens
Absent cutaneous reaction to 
Candida antigens


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