Primary immunodeficiency 2

Question 1

Causes of SCID

Answer 1

> 20 POSSIBLE PATHWAYS DEFINED: DEFICIENCY OF CYTOKINE RECEPTORS, DEFICIENCY OF SIGNALLING MOLECULES, METABOLIC DEFECTS …

Question 2

X-linked SCID

Answer 2

45% of all severe combined immunodeficiency

Question 3

mutation of common gamma chain on choromosme X13.1??

Answer 3

X-linked SCID

Question 4

ADA deficiency how common

Answer 4

15% of SCID?

Question 5

What protects the SCID neonate in first 3 months of life

Answer 5

active transport of maternal IgG across placenta

Question 6

Clincal phenotype of scid

Answer 6

unwell by 3 months of age, infections of all types, failure to thrive, …

Question 7

22q11.2 deletion syndrome

Answer 7

DiGeorge syndrome

Question 8

DiGeorge syndrome features

Answer 8

high forehead, low set abnormally folded ears, cleft palate, small mouth and jaw. Hypocalcaemia, oesophageal atresia, underdeveloped thymus, complex congenital health disease. Normal B cells, low T cells.

Question 9

bare lymphocyte syndrome features

Answer 9

unwell by 3 montjs of age, infections of all type, failure to thrive, family history of childhood? death

Question 10

Bare lymphocyte syndromes what is it

Answer 10

failure of expression of HLA molecules

Question 11

SCID what is it (x-linked)

Answer 11

failure of lymphocyte precursos

Question 12

Clinical features of lymphocyte deficiencies

Answer 12

T cell deficiency: viral infections (cytomegalovirus), fungal infections (pneumocystitis..)

Question 13

Ix of T cell deficiencies

Answer 13

total white cell count and differential, lymphocyte subsets, immunoglobulins, functional test of t cell activation and proliferation, HIV test

Question 14

SCID Ix results

Answer 14

Normal: –

Abnormal: CD4, CD8, maybe B cell,maybe IgM, IgG

Question 15

DiGeroge

Answer 15

Low CD4, CD8 and maybe low IgG

Question 16

???

Answer 16

CD4 annd IgG???

Question 17

Severe recurrent infections from 3 months, T cells absent, B cells present, Igs low. Normal facial features and cardiac echo

Answer 17

X-linked SCID

Question 18

Recurrent childhood infections, abnormal facial features, congenital heart disease, normal B cells, reduced T cells, Low IgA, Low IgG

Answer 18

22q11.2 deletion syndrome (Di George)

Question 19

Bruton’s X linked agammaglobulinaemia clinical phenotype

Answer 19

boys present in first few years of life, recurrent bacterial infecitons …

Question 20

Hyper IgM syndrome

Answer 20

mutation in CD40 ligand gene (CD40L, CD154). Normal number circulating B cells, normal number of t cells?

Question 21

Hyper IgM syndrome clincial phenotype

Answer 21

boys present in first few yearsof life, recurrent infections - bacterial, subtle abnormality in t cell function, ….

Question 22

Common variable immune deficiency

Answer 22

marked reduction IgG, and low IgA and/or IgE … recurrent bacterial infections

Failure of full differentiation/function of B lymphocytes

Question 23

Selective IgA deficiency?

Answer 23

…

Question 24

Investigations of b cell deficiencies

Answer 24

total white cell count and differential, lymphocyte subset, serum immunoglobulins and protein electrophoresis, functional tests of b cell function

Question 25

SCID Ix results

Answer 25

Low cd4, cd8, IgG, and maybe low B cell, IgM

Question 26

Brutons X linked Ix results

Answer 26

Low b cell, igm, IgG …

Question 27

Hyper IgM

Answer 27

high IgM, low IgG

Question 28

Selective IgA

Answer 28

Low IgA

Question 29

CVID

Answer 29

Low IgG

Question 30

1 year old boy. Recurrent bacterial infections. CD4 and CD8 T cells present. B cells absent. IgG, IgA, IgM all absent.

Answer 30

Bruton’s X-Linked hypogammaglubulin aemia…

Question 31

Recurrent bacterial infections in a child, episode of pneumocystis pneumonia, high IgM, absent IgA, absent IgG

Answer 31

X-linked Hyper IgM syndrome - mutation of CD40 ligand

Question 32

Adult with bronchiectasis, recurrent sinusitis and development of atypical SLE

Answer 32

Common variable immunodeficiency

Question 33

Laboratory tests for primary immunodeficiency

Answer 33

…