other combined immunodeficiency Flashcards
decreased CD4, FTT, respiratory and GI infections, liver disease
MHCII deficiency
decreased CD4, normal MHC2 expression, decreased T reg cells, increased IgM, immune dysregulatiion
LCK deficiency
decreased CD4, normal MHC2 expression, recurrent respiratory and skin infections, warts molluscum, short stature, intellectual disability, decreased B cells and immunoglobulins
Polymerase gamma deficiency (POLD1 or POLD2)
decreased CD8, absent MHC1 expression, vasculitis, pyoderma gangrenosum, normal immunoglobulins
MHC 1 deficiency (TAP1,2, BP)
decreased CD8, normal MHC1 expression, immune dysreguation, normal immunoglobulins, autoimmunity , decraesed CD4 function
ZAP-70 deficiency
AR, decreased B cells, erythroderma, increased lymphoid tissues, HSM, diarrhea, FTT, alopecia, recurrent infections, eosinophilia and increased IgE
Omenn syndrome, Hypomorphic mutations of SCID such as RAG1/RAG2
STAT3 LOF
Hyper IgE type 1
AD, triad of recurrent skin and lung infections and severe eczema, IgE>2k, absent Th17 cells on flow cytometry, cold skin abscesses, penumatoceles
Hyper IgE type 1, STAT3 LOF
DOCK8
Hyper IgE type 2
AR, cutaneosu viral and staphylococcal infections, HPV, HSV, VZV, molluscum, severe mucocutaneous candidiasis, severe atopy, eosinophilia, decreased TRECs, decreased NK cells, increased B cells
DOCK 8 hyper IGE type 2
AR, disseminated BCG lymphadenitis and salmonellosis with cutaneous viral and skin infections
Hyper IGE type III, Tyk2
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
CD40L deficiency (X-linked Hyper IgM syndrome)
x-linked, congenital thrombocytopenia, decrease platelet size and function, recurrent bacterial and viral infections +/- eczema, IG nephropathy, vasculitis
Wiskott-Aldrich
AR, congenital thrombocytopenia, WAS protein absent, increased IgE
WIP deficiency
AR, short-limbed dwarfism, sparse hair, bone marrow failure
Cartilage hair hypoplasia (RMRP)