Snap Dx Immunodeficiencies

Question 1

Infant. Hypocalcaemia, heart defects and dysmorphic features.

Answer 1

DiGeorge/22q11

Thymic aplasia & T cell deficiency

Question 2

Infant. Delayed umbilical stump separation, recurrent infection

Answer 2

Leukocyte adhesion defect

Question 3

Infant. Persistent thrush, FTT, pneumonia and diarrhoea

Answer 3

SCID

Question 4

Infant. PJP, neutropenia, recurrent infection

Answer 4

X-Linked hyper IgM syndrome

Question 5

Infant. Bloody diarrhoea/hx CMPI, atopic eczema, low plts

Answer 5

Wiskott-Aldrich

Question 6

Young child. Progressive infectious mononucleosis

Answer 6

X-Linked lymphoproliferative disorder

Question 7

Young child. Recurrent staph abscesses, staph pneumonia, pneumatocele, pruritic dermatitis

Answer 7

Hyper IgE syndrome

Question 8

Young child. Persistent thrush, nail dystrophy, endocrinopathy

Answer 8

Chronic mucocutaneous candidiasis

Question 9

Young child. Eczema, T1DM, diarrhoea

Answer 9

IPEX

Question 10

Short stature, fine hair, severe varicella

Answer 10

Cartilage-hair-hypoplasia with short limbed dwarfism

Question 11

Oculocutaneous albinism, recurrent infection

Answer 11

Chediak-Higashi

Question 12

Liver abscess, supperative lymphadenopathy, pneumonia, OM, aspergillosis

Answer 12

Chronic granulomatous disease

Question 13

Dermatomyositis and enterovirus encephalitis

Answer 13

X-Linked agammaglobulinaemia

Question 14

Sinupulmonary infection, neurologic deterioration, telangiectasias

Answer 14

Ataxia-Telangiectasia

Question 15

Recurrent neisseria meningitis

Answer 15

Complement deficiency

Question 16

Older child. Sinopulmonary infection, splenomegaly, autoimmune conditions, malabsorption

Answer 16

CVID