other combined immunodeficiency Flashcards

1
Q

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

A

MHCII deficiency

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2
Q

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

A

LCK deficiency

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3
Q

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

A

Polymerase gamma deficiency (POLD1 or POLD2)

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4
Q

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

A

MHC 1 deficiency (TAP1,2, BP)

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5
Q

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

A

ZAP-70 deficiency

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6
Q

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

A

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

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7
Q

STAT3 LOF

A

Hyper IgE type 1

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8
Q

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

A

Hyper IgE type 1, STAT3 LOF

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9
Q

DOCK8

A

Hyper IgE type 2

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10
Q

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

A

DOCK 8 hyper IGE type 2

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11
Q

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

A

Hyper IGE type III, Tyk2

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12
Q

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

A

CD40L deficiency (X-linked Hyper IgM syndrome)

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13
Q

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

A

Wiskott-Aldrich

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14
Q

AR, congenital thrombocytopenia, WAS protein absent, increased IgE

A

WIP deficiency

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15
Q

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

A

Cartilage hair hypoplasia (RMRP)

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16
Q

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

A

DiGeorge/22q11.2DS TBX1

17
Q

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

A

CHARGE

18
Q

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

A

Jacobsen (11q23del)

19
Q

congenital ichthyosis, bamboo hair, mainly humoral deficiency, SPINK6

A

Netherton syndromeanh

20
Q

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

A

NEMO deficiency (IKBKG)

21
Q

Combined immunodeficiency with DNA repair defects

A

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

22
Q

AR, ataxia, telangectasia, increase AFP, increase radiosensitivity

A

Ataxia telangectasia

23
Q

AR, microcephaly, bird like face, radosensitivity

A

Nijmegen breakage syndrome

24
Q

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

A

Bloom syndrome

25
Q
A