Sandbox:Ali: Difference between revisions
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{{Family tree | | C01 | | | | C02 | | | | C03 | | | | C04 | | | | | | | | | | | | | | | | |C01=SCID T-ve B+ve NK-ve|C02=SCID T-ve B+ve NK+ve|C03=SCID T-ve B-ve NK-ve|C04=SCID T-ve B-ve NK+ve}} | {{Family tree | | C01 | | | | C02 | | | | C03 | | | | C04 | | | | | | | | | | | | | | | | |C01=SCID T-ve B+ve NK-ve|C02=SCID T-ve B+ve NK+ve|C03=SCID T-ve B-ve NK-ve|C04=SCID T-ve B-ve NK+ve}} | ||
{{Family tree | |!| | | | | |!| | | | | |!| | | | | |,|^|-|-|-|.| | | | | | |}} | {{Family tree | |!| | | | | |!| | | | | |!| | | | | |,|^|-|-|-|.| | | | | | |}} | ||
{{Family tree | |)| D01 | | |)| E01 | | |)| F01 | | G01 | | | G02 | | | | | | | |}} | {{Family tree | |)| D01 | | |)| E01 | | |)| F01 | | G01 | | | G02 | | | | | | | |D01=yc deficiency|E01=IL7Ra .|F01=ADA def|G01=Microcephaly present|G02=Microcephaly absent}} | ||
{{Family tree | |!| | | | | |!| | | | | |!| | | | |!| | | | |!| | | | | | | |}} | {{Family tree | |!| | | | | |!| | | | | |!| | | | |!| | | | |!| | | | | | | |}} | ||
{{Family tree | |`| D02 | | |)| E02 | | |`| F02 | |)| H01 | |)| H05 | | | | | | |}} | {{Family tree | |`| D02 | | |)| E02 | | |`| F02 | |)| H01 | |)| H05 | | | | | | |D02=JAK-3 def|E02=CD3D, CD3E, CD247|F02=Reticular dysgenesis|H01= DNA Ligase IV def|H05=RAG1/2 def}} | ||
{{Family tree | | | | | | | |!| | | | | | | | | | |!| | | | |!| | | | | | | | | |}} | {{Family tree | | | | | | | |!| | | | | | | | | | |!| | | | |!| | | | | | | | | |}} | ||
{{Family tree | | | | | | | |)| E03 | | | | | | | |)| H02 | |`| H06 | | | | | | |}} | {{Family tree | | | | | | | |)| E03 | | | | | | | |)| H02 | |`| H06 | | | | | | |E03=CD45 def|H02=XLF def|H06=DCLRE1C def}} | ||
{{Family tree | | | | | | | |!| | | | | | | | | | |!| | | | | | | | | | | | | | |}} | {{Family tree | | | | | | | |!| | | | | | | | | | |!| | | | | | | | | | | | | | |}} | ||
{{Family tree | | | | | | | |)| E04 | | | | | | | |`| H03 | | | | | | | | | | | |}} | {{Family tree | | | | | | | |)| E04 | | | | | | | |`| H03 | | | | | | | | | | | |E04=Coronin-1A def|H03=DNA PKcs def}} | ||
{{Family tree | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | |}} | {{Family tree | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | |}} | ||
{{Family tree | | | | | | | |`| E05 | | | | | | | | | | | | | | | | | | | | | | |}} | {{Family tree | | | | | | | |`| E05 | | | | | | | | | | | | | | | | | | | | | | |E05=Winged helix def}} | ||
{{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}} | {{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}} | ||
{{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}} | {{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}} |
Revision as of 13:31, 5 October 2018
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ali Akram, M.B.B.S.[2]
Overview
Classification
Immunodeficiency disorders are classified into two types:
- Primary immunodeficiency
- Secondary immunodeficiency
Primary immunodeficiency:
Primary immunodeficiency disorders | ||||
---|---|---|---|---|
Phagocyte cell defects | Decreased number
Functional Defects |
Schwachman-Diamond Syndrome
G6PC3 deficiency Cohen Syndrome Barth Syndrome Glycogen Storage Disease Type 1b Clericuzio Syndrome VPS45 deficiency P14/LAMTOR2 deficiency JAGN1 deficiency 3-methylglutaconic aciduria SMARCD2 deficiency WDR1 deficiency HYOU1 deficiency Elastase deficiency HAX1 deficiency(Kostmann Disease) GFI1 deficiency G-CSF receptor deficiency X-linked neutropenia /mylodysplasia WAS GOF Neutropenia with combined immune deficiency Cystic Fibrosis Papillion-Lefèvre Localized juvenile peridontitis B-Actin Leukocyte adhesion deficiency GATA2 def (MonoMac sd) Specific granule deficiency Pulmonary alveolar proteinosis Chronic Granulomatous Disease Rac 2 def G6PD def Class 1 |
||
Defects in Intrinsic and Innate immunity | Predisposition to bacterial infections | |||
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Algorithms
Immunodeficiency affecting cellular and humoral immunity | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CD19 NL: SCID T-ve B+ve | CD19 ↓: SCID T-ve B-ve | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SCID T-ve B+ve NK-ve | SCID T-ve B+ve NK+ve | SCID T-ve B-ve NK-ve | SCID T-ve B-ve NK+ve | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
yc deficiency | IL7Ra . | ADA def | Microcephaly present | Microcephaly absent | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
JAK-3 def | CD3D, CD3E, CD247 | Reticular dysgenesis | DNA Ligase IV def | RAG1/2 def | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
CD45 def | XLF def | DCLRE1C def | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Coronin-1A def | DNA PKcs def | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Winged helix def | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||