Congenital defects of phagocytes: Difference between revisions
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==Classification== | ==Classification== | ||
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{{Family tree | | | A01 | | |A01=Congenital defects of Phagocyte}} | |||
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{{Family tree | B01 | | B02 |B01=Congenital defects of phagocyte number|B02=Congenital defects of phagocyte function}} | |||
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===Congeital Defects of Phagocyte Number=== | |||
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{{Family tree | | | | | A01 | | | | | | |A01=Congenital defects of phagocyte number}} | |||
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{{Family tree | | B01 | | | | B02 | | | |B01=Syndrome associated|B02=No syndrome associated}} | |||
{{Family tree | |!| | | | | |!| | | | | |}} | |||
{{Family tree | |)| C01 | | |)| D01 | | |C01=Shwachman-Diamond syndrome|D01=Elastase deficiency (SCN1)}} | |||
{{Family tree | |!| | | | | |!| | | | | |}} | |||
{{Family tree | |)| C02 | | |)| D02 | | |C02=G6PC3 deficiency (SCN4)|D02=HAX1 deficiency (Kostmann Disease) (SCN3)}} | |||
{{Family tree | |!| | | | | |!| | | | | |}} | |||
{{Family tree | |)| C03 | | |)| D03 | | |C03=Glycogen storage disease type 1b|D03=GFI 1 deficiency (SCN2)}} | |||
{{Family tree | |!| | | | | |!| | | | | |}} | |||
{{Family tree | |)| C04 | | |)| D04 | | |C04=Cohen syndrome|D04=X-linked neutropenia/myelodysplasia WAS GOF}} | |||
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{{Family tree | |)| C05 | | |)| D05 | | |C05=Barth Syndrome|D05=G-CSF receptor deficiency}} | |||
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{{Family tree | |)| C06 | | |`| D06 | | |C06=Clericuzio syndrome (poikiloderma with neutropenia)|D06=Neutropenia with combined immune deficiency}} | |||
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{{Family tree | |)| C07 | | | | | | | | |C07=VPS45 deficiency(SCN5)}} | |||
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{{Family tree | |)| C08 | | | | | | | | |C08=P14/LAMTOR2 deficiency}} | |||
{{Family tree | |!| | | | | | | | | | | |}} | |||
{{Family tree | |)| C09 | | | | | | | | |C09=JAGN1 deficiency}} | |||
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{{Family tree | |)| C10 | | | | | | | | |C10=methylglutacoic aciduria}} | |||
{{Family tree | |!| | | | | | | | | | | |}} | |||
{{Family tree | |)| C11 | | | | | | | | |C11=SMARCD2 deficiency}} | |||
{{Family tree | |!| | | | | | | | | | | |}} | |||
{{Family tree | |)| C12 | | | | | | | | |C12=WDR1 deficiency}} | |||
{{Family tree | |!| | | | | | | | | | | |}} | |||
{{Family tree | |`| C13 | | | |C13=HYOU1 deficiency}} | |||
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===Congenital defects of phagocyte function=== | |||
{{Family tree/start}} | {{Family tree/start}} | ||
{{Family tree | {{Family tree | | | | | | A01 | | | | | | | | | |A01=Congenital defects of phagocyte function}} | ||
{{Family tree | {{Family tree | | |,|-|-|-|^|-|-|-|.| | | | | | |}} | ||
{{Family tree | {{Family tree | | B01 | | | | | | B02 | | | | | |B01=Syndrome associated|B02=No Syndrome associated;DHR assay(or NBT test)?}} | ||
{{Family tree | {{Family tree | |!| | | | | | |,|-|^|-|-|.| | | |}} | ||
{{Family tree | {{Family tree | |)| C01 | | | C02 | | | C03 | | |C01=Cystic Fibrosis|C02=Normal|C03=Abnormal}} | ||
{{Family tree | {{Family tree | |!| | | | | |!| | | | |!| | | | |}} | ||
{{Family tree | {{Family tree | |)| D01 | | |)| D02 | |)| D03 | |D01=Papillion-Lefèvre|D02=GATA2 def (MonoMac syndrome|D03=CGD}} | ||
{{Family tree | {{Family tree | |!| | | | | |!| | | | |!| | | | |}} | ||
{{Family tree | {{Family tree | |)| E01 | | |)| E02 | |)| E03 | |E01=Localized juvenile periodontitis|E02=Specific granule deficiency|E03=Rac 2 deficiency}} | ||
{{Family tree | {{Family tree | |!| | | | | |!| | | | |!| | | | |}} | ||
{{Family tree | {{Family tree | |)| F01 | | |`| F02 | |`| F03 | |F01=B-Actin|F02=Pulmonary alveolar proteinosis|F03=G6PD def Class 1}} | ||
{{Family tree | {{Family tree | |!| | | | | | | | | | | | | | | |}} | ||
{{Family tree | {{Family tree | |`| G01 | | | | | | | | | | | | |G01=Leukocyte adhesion deficiency}} | ||
{{Family tree/end}} | {{Family tree/end}} | ||
==References== | ==References== | ||
Revision as of 15:39, 11 October 2018
|
Immunodeficiency Main Page |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ali Akram, M.B.B.S.[2], Anmol Pitliya, M.B.B.S. M.D.[3]
Overview
Classification
| Congenital defects of Phagocyte | |||||||||||||||
| Congenital defects of phagocyte number | Congenital defects of phagocyte function | ||||||||||||||
Congeital Defects of Phagocyte Number
| Congenital defects of phagocyte number | |||||||||||||||||||||||||||
| Syndrome associated | No syndrome associated | ||||||||||||||||||||||||||
| Shwachman-Diamond syndrome | Elastase deficiency (SCN1) | ||||||||||||||||||||||||||
| G6PC3 deficiency (SCN4) | HAX1 deficiency (Kostmann Disease) (SCN3) | ||||||||||||||||||||||||||
| Glycogen storage disease type 1b | GFI 1 deficiency (SCN2) | ||||||||||||||||||||||||||
| Cohen syndrome | X-linked neutropenia/myelodysplasia WAS GOF | ||||||||||||||||||||||||||
| Barth Syndrome | G-CSF receptor deficiency | ||||||||||||||||||||||||||
| Clericuzio syndrome (poikiloderma with neutropenia) | Neutropenia with combined immune deficiency | ||||||||||||||||||||||||||
| VPS45 deficiency(SCN5) | |||||||||||||||||||||||||||
| P14/LAMTOR2 deficiency | |||||||||||||||||||||||||||
| JAGN1 deficiency | |||||||||||||||||||||||||||
| methylglutacoic aciduria | |||||||||||||||||||||||||||
| SMARCD2 deficiency | |||||||||||||||||||||||||||
| WDR1 deficiency | |||||||||||||||||||||||||||
| HYOU1 deficiency | |||||||||||||||||||||||||||
Congenital defects of phagocyte function
| Congenital defects of phagocyte function | |||||||||||||||||||||||||||||||||||
| Syndrome associated | No Syndrome associated;DHR assay(or NBT test)? | ||||||||||||||||||||||||||||||||||
| Cystic Fibrosis | Normal | Abnormal | |||||||||||||||||||||||||||||||||
| Papillion-Lefèvre | GATA2 def (MonoMac syndrome | CGD | |||||||||||||||||||||||||||||||||
| Localized juvenile periodontitis | Specific granule deficiency | Rac 2 deficiency | |||||||||||||||||||||||||||||||||
| B-Actin | Pulmonary alveolar proteinosis | G6PD def Class 1 | |||||||||||||||||||||||||||||||||
| Leukocyte adhesion deficiency | |||||||||||||||||||||||||||||||||||