other combined immunodeficiency

Question 1

decreased CD4, FTT, respiratory and GI infections, liver disease

Answer 1

MHCII deficiency

Question 2

decreased CD4, normal MHC2 expression, decreased T reg cells, increased IgM, immune dysregulatiion

Answer 2

LCK deficiency

Question 3

decreased CD4, normal MHC2 expression, recurrent respiratory and skin infections, warts molluscum, short stature, intellectual disability, decreased B cells and immunoglobulins

Answer 3

Polymerase gamma deficiency (POLD1 or POLD2)

Question 4

decreased CD8, absent MHC1 expression, vasculitis, pyoderma gangrenosum, normal immunoglobulins

Answer 4

MHC 1 deficiency (TAP1,2, BP)

Question 5

decreased CD8, normal MHC1 expression, immune dysreguation, normal immunoglobulins, autoimmunity , decraesed CD4 function

Answer 5

ZAP-70 deficiency

Question 6

AR, decreased B cells, erythroderma, increased lymphoid tissues, HSM, diarrhea, FTT, alopecia, recurrent infections, eosinophilia and increased IgE

Answer 6

Omenn syndrome, Hypomorphic mutations of SCID such as RAG1/RAG2

Question 7

STAT3 LOF

Answer 7

Hyper IgE type 1

Question 8

AD, triad of recurrent skin and lung infections and severe eczema, IgE>2k, absent Th17 cells on flow cytometry, cold skin abscesses, penumatoceles

Answer 8

Hyper IgE type 1, STAT3 LOF

Question 9

DOCK8

Answer 9

Hyper IgE type 2

Question 10

AR, cutaneosu viral and staphylococcal infections, HPV, HSV, VZV, molluscum, severe mucocutaneous candidiasis, severe atopy, eosinophilia, decreased TRECs, decreased NK cells, increased B cells

Answer 10

DOCK 8 hyper IGE type 2

Question 11

AR, disseminated BCG lymphadenitis and salmonellosis with cutaneous viral and skin infections

Answer 11

Hyper IGE type III, Tyk2

Question 12

X-linked recessive, opportunistic infections, biliary disease, absent germinal centers (no tonsils, LNs), neutropenia, IgM normal or increased, B cells and T cells normal to decreased

Answer 12

CD40L deficiency (X-linked Hyper IgM syndrome)

Question 13

x-linked, congenital thrombocytopenia, decrease platelet size and function, recurrent bacterial and viral infections +/- eczema, IG nephropathy, vasculitis

Answer 13

Wiskott-Aldrich

Question 14

AR, congenital thrombocytopenia, WAS protein absent, increased IgE

Answer 14

WIP deficiency

Question 15

AR, short-limbed dwarfism, sparse hair, bone marrow failure

Answer 15

Cartilage hair hypoplasia (RMRP)

Question 16

AD, cardiac defects, anormal facies, thymic hypolasia, cleft palate, hypocalcemia, dev delay

Answer 16

DiGeorge/22q11.2DS TBX1

Question 17

CHD7, SEMA3E, coloboma, hear tanomaly, choanal atresia, retardation of growth, ear abnormalities

Answer 17

CHARGE

Question 18

recurrent respirator infection, multiple warts, facial dysmorphism, lymphopenia,

Answer 18

Jacobsen (11q23del)

Question 19

congenital ichthyosis, bamboo hair, mainly humoral deficiency, SPINK6

Answer 19

Netherton syndromeanh

Question 20

anhidrotic ectodermal dysplasia, X-linked, various infections, colitis

Answer 20

NEMO deficiency (IKBKG)

Question 21

Combined immunodeficiency with DNA repair defects

Answer 21

Ataxia telangectasia (ATM), nijmegen breakage syndrome (NBS1), Bloom syndrome (BLM)

Question 22

AR, ataxia, telangectasia, increase AFP, increase radiosensitivity

Answer 22

Ataxia telangectasia

Question 23

AR, microcephaly, bird like face, radosensitivity

Answer 23

Nijmegen breakage syndrome

Question 24

AR, short stature, bird like face, sun sensitive erythema, marrow failure

Answer 24

Bloom syndrome