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21 Cards in this Set
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- Back
- 3rd side (hint)
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Chediak Higashi syndrome |
*LYST gene Mutation - lysosomal transferase defect C/f- ~ nystagmus, ~ reduced NK cell response, ~albinism due to defective Melanin transfer in melanocytes, ~peripheral neuropathy due to ineffective myelin formation ~neutrophil defect: recurring bacterial infection ~defective platelets: bleeding disorder ~Large granular neutrophils ~defect in chemotaxis and phagolysosome formation |
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Chronic granulomatous diseases |
*Defect in PHOX gene - "phagocytic oxidase" i.e. NADPH oxidase *2 types: membranous (more common) and cytoplasmic *Membranous - XLR cytoplasmic - AR *Membranous - Gp91 Mutation *cytoplasmic - p47 p67 Mutation *normal phagocytosis but defect in respiratory burst Diagnostic test : nitro blue tetrazolium Catalase positive organism infection Defective H2O2 production Disorder of phagocytosis |
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Swyer's syndrome |
XY Mutated Y Female external genitalia Female internal genitalia Cause: dysgenic testis doesn't produce MIF XY female |
Swyer asked why my y n cried like a girl |
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Lawrence Moon Biedl |
-mental retardation -hypogonadotropic hypogonadism -polydactyly -retinitis pigmentosa |
Lawrence couldn't see the moon and couldn't count fingers coz he had too many and his brain bidlilla :) |
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Frohlich syndrome |
-obesity -genital hypoplasia -hypogonadotropic hypogonadism |
Frohlich fat frock failed HThalamus |
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Prader willi |
Paternal genomic imprinting Or maternal disomy -obesity -hypogonadotropic hypogonadism |
Papa gene silenced |
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McCune Albright syndrome |
-polyostotic dysplasia -peripheral /pseudo puberty -irregular café au lait spots |
M- multiple bone deformity C- café au lait A- axis (HPO) normal = peripheral puberty |
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Kallmann syndrome |
-colour blindness -anosmia -hypogonadotropic hypogonadism (no GnRH) Can also have: Cleft lip/palate SNHL Ataxia |
KallMann : kannu mugu |
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DiGeorge syndrome/ velocardiofacial syndrome |
-thymic hypoplasia -Absent T cells = recurrent fungal & viral infections -chr 22 deletion -tetany : hypocalcemia d/t absent parathyroids -absent 3rd and 4th pharyngeal pouches - facial abnormalities, Cleft palate -cardiac defects esp TOF |
CATCH 22 or all Ts |
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Wiskott Aldrich syndrome |
Recurrent infection EczemaThrombocytopenia (small platelets) X linked - Mutation of WASP gene on Xp chromosome Low IgM↑ IgE Normal G, A Definitive diagnosis : ↓ WAS protein / Mutation detection |
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Common variable immunodeficiency |
Hypogammaglobulinemia - late onset Defective B cell maturation into Plasma cells : almost normal B cell number Recurrent : a. Pyogenic infections b. HSV infections C. Diarrhea d/t g. Lamblia ↑ lymphoma risk, autoimmune disease risk Defective cytokine receptor called BAFF T/t : γ globulins |
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Bruton's disease / agammaglobulinemia |
XLR Defective maturation of pre B cell to mature B cell =no Bcells /plasma cells in serum = low Ig of all classes Poor development of germinal centres of Peyer's patch, appendix, LN, Defect : Btk - B cell tyrosine kinase Mutation Recurrent pyogenic infections Becomes apparent at 6 months age when maternal Ig depleted in baby |
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Kikuchi fujimoto/histiocytic necrotizing lymphadenitis |
Benign self limited Regional cervical lymphadenopathy with necrotizing changes on biopsy A/w night sweats and fever mild grade, seen in young individuals Probably viral etiology Patients should be followed up due to higher risk of SLE later |
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Castleman disease |
Angiofollicular lymphoid hyperplasia (hyalinovascular type in localised form & plasma cell type in multicentric form) Etiology - HHV 8 A/w POEMS syndrome ie polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin changes |
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Ataxia telengiectasia |
Ataxia, nystagmus - loss of purkinje, basket, granule cells of cerebellum Telengiectasia Choreoathetoid movements Low IgA and G2 Thymic hypoplasia IDDM or insulin resistance Defect: DNA repair genes Premature ageing Recurrent infection - bronchiectasis Lymphoid neoplasms |
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Preogeria/Hutchinson Gilford syndrome |
Premature ageing beginning around 6 to 12 months Werner syndrome - Premature ageing due to defect in DNA helicase - begins by late teenage -Defect in WS gene |
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Heerfordt syndrome |
Facial palsy Parotid enlargement Anterior uveitis Fever |
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Lofgren syndrome |
Uveitis Hilar lymphadenopathy Erythema nodosum |
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Hyper IgE /Job's syndrome |
Eczema, osteoporosis, kyphoscoliosis, wide nose High IgE but normal other Ig. Low eosinophils Phagocytic defect |
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Schwachman Diamond syndrome |
-short stature -neutropenia -skeletal abnormalities -bone marrow dysfunction -exocrine panc insufficiency |
Short man Drank too much and his hard as diamond bone got screwed |
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Dents disease |
X linked Disorder of chloride channels in PCT Leads to nephrocalcinosis, nephrolithiasis, renal failure Mutation of ClC5 (chloride channel 5) Leads to Fanconi syndrome( aa uria, phosphaturia, glycosuria) and type 2 RTA Low molecular weight proteinuria |
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