Classical features of primary immunodeficiencies

Question 1

Hypocalcaemia, unusual faces, heart disease

Answer 1

22q11 deletion

Question 2

Delayed umbilical cord detachment, leukocytosis, recurrent infections

Answer 2

leukocyte adhesion defect

Question 3

Persistent thrush, failure to thrive, pneumonia, diarrhoea

Answer 3

Severe combined immunodeficiency

Question 4

Bloody stools, draining ears, atopic eczema

Answer 4

Wiskott-Aldrich syndrome

Question 5

Pneumocystis jiroveci pneumonia, neutropenia, recurrent infections

Answer 5

X-linked hyper IgM syndrome

Question 6

Severe progressive infections mononucleois

Answer 6

X-linked lymphoproliferative syndrome

Question 7

Recurrent staphylococcal abscesses, staphylococcal pneumonia with pneumatocoele formation, coarse facial features, pruritic dermatitis

Answer 7

Hyper IgE syndrome

Question 8

Persistent thrush, nail dystrophy, endocrinopathies

Answer 8

Chronic mucocutaneous candidiasis

Question 9

Short stature, fine hair, severe varicella

Answer 9

Cartilage hair hypoplasia with short-limbed dwarfism

Question 10

Oculocutaneous albinism, recurrent infection, bleeding diathesis, peripheral neuropathy

Answer 10

Chediak-Higashi syndrome

Question 11

Abscesses, suppurative lymphadenopathy, antral outlet obstruction, pneumonia, osteomyelitis

Answer 11

Chronic granulomatous disease

Question 12

Progressive dermatomyositis with chronic enterovirus enephalitis

Answer 12

X-linked agammaglobulinemia

Question 13

Sinopulmonary infections, neurologic deterioration, telangiectasia

Answer 13

ataxia-telangiectasia

Question 14

Reurrent neisserial meningitis

Answer 14

C6, C7 or C8 deficiency

Question 15

Sinopulmonary infections, splenomegaly, autoimmunity, malabsorption

Answer 15

Common variable immunodeficiency

Question 16

Watery diarrhoea, eczema, IDDM, hyperthyroidism, autoimmune disorders

Answer 16

IPEX (immune-dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome)

Question 17

Autoimmnity, chronic lymphadenopathy, hepatosplenomegaly, Hyper IgG and IgA

Answer 17

Autoimmune lymphoproliferative syndrome.

Question 18

Cow’s milk protein intolerance, allergy to blood transfusions

Answer 18

Selective IgA deficiency

Question 19

Sinopulmonary problems, eczema, pancreatic insufficiency

Answer 19

Schwachman-Diamond syndrome.

Question 20

Massive hepatomegaly, neutropenia, growth retardation, hypoglycemia

Answer 20

GSD 1b

Question 21

Neutropenia, albinism, HLH

Answer 21

Griscelli syndrome type II

Question 22

Recurrent pyogenic infections, congenital neutropenia

Answer 22

Kostmann syndrome

Question 23

Cyclical pharyngitis, ulcers of oral/rectal mucosa

Answer 23

Cyclic neutropenia