Combined immunodeficiency: Difference between revisions
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==Classification== | ==Classification== | ||
{{Family tree/start}} | {{Family tree/start}} | ||
{{Family tree | {{Family tree | | | | | | | | | | | | | | | | | | | | | | A01 | | | | | | | | | |A01=Combined Immunodeficiency Diseases with associated or syndromic features}} | ||
{{Family tree | {{Family tree | | |,|-|-|-|-|v|-|-|-|-|v|-|-|-|-|v|-|-|-|-|+|-|-|-|-|v|-|-|-|-|v|-|-|-|-|v|-|-|-|-|.| |}} | ||
{{Family tree | {{Family tree | | B01 | | | B02 | | | B03 | | | B04 | | | B05 | | | B06 | | | B07 | | | B08 | | | B09 | |B01=Congenital thromocytopenia|B02=DNA Repair Defects|B03=Immuno-osseous dysplasias|B04=Thymic Defects with additional congenital anomalies|B05=Hyper-IgE syndromes(HIES)|B06=Dyskeratosis congenita (DKC)|B07=Defects of Vitamin B12 and Folate metabolism|B08=Anhidrotic Ectodermodysplasia with ID|B09=Others}} | ||
{{Family tree | {{Family tree | |!| | | | |!| | | | |!| | | | |!| | | | |!| | | | |!| | | | |!| | | | |!| | | | |!| | | |}} | ||
{{Family tree | {{Family tree | |)| C01 | |)| D01 | |)| E01 | |)| F01 | |)| G01 | |)| H01 | |)| I01 | |)| J01 | |)| K01 |C01=Wiskott Aldrich Syndrome|D01=Ataxia telangiectasia|E01=Cartilage Hair Hypoplasia|F01=DiDeorge Syndrome|G01=Job Syndrome|H01=Dyskeratosis congenita|I01=Transcobalmin 2 deficiency|J01=NEMO deficiency|K01=Purine nucleoside phosphorylase deficiency}} | ||
{{Family tree | {{Family tree | |!| | | | |!| | | | |!| | | | |!| | | | |!| | | | |!| | | | |!| | | | |!| | | | |!| | | |}} | ||
{{Family tree | {{Family tree | |)| C02 | |)| D02 | |)| E02 | |)| F02 | |)| G02 | |)| H02 | |)| I02 | |`| J02 | |)| K02 |C02=XL thrombocytopenia|D02=Nijmegen breakage Syndrome|E02=Schimke Syndrome|F02=TBX1 deficiency|G02=Comel Netherton Syndrome|H02=COATS plus syndrome|I02=Deficiency causing hereditary folate malabsorption|J02=EDA-ID due to IKBA GOF mutation|K02=ID with multiple intestinal atresias}} | ||
{{Family tree | {{Family tree | |!| | | | |!| | | | |!| | | | |!| | | | |!| | | | |!| | | | |!| | | | | | | | | |!| | | |}} | ||
{{Family tree | {{Family tree | |)| C03 | |)| D03 | |)| E03 | |)| F03 | |`| G03 | |)| H03 | |`| I03 | | | | | | |)| K03 | |C03=WIP deficiency|D03=Bloom syndrome|E03=MYSM1 deficiency|F03=Chromosome 10p13-p14 deletion Syndrome|G03=PGM3 deficiency|H03=SAMD9|I03=Methylene-tetrahydrofolate-dehydrogenase 1 deficiency|K03=Hepatic veno-occlusive disease with immunodeficiency}} | ||
{{Family tree | {{Family tree | |!| | | | |!| | | | |!| | | | |!| | | | | | | | | |!| | | | | | | | | | | | | | |!| | | | |}} | ||
{{Family tree | {{Family tree | |`| C04 | |)| D04 | |)| E04 | |`| F04 | | | | | | |`| H04 | | | | | | | | | | | |)| K04 | |C04=ARPC1B deficiency|D04=PMS2 deficiency|E04=MOPD1 deficiency|F04=CHARGE Syndrome|H04=SAMD9L|K04=Vici Syndrome}} | ||
{{Family tree | {{Family tree | | | | | | |!| | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | | | | | |!| | | | |}} | ||
{{Family tree | {{Family tree | | | | | | |)| D05 | |`| E05 | | | | | | | | | | | | | | | | | | | | | | | | | | |)| K05 | |D05=Immunodeficiency with centromeric instability and facial anomalies(ICF1, ICF2, ICF3, ICF4)|E05=EXTL3 deficiency|K05=HOIL1 deficiency, HOIP1 deficiency}} | ||
{{Family tree | | | | | | | | | | {{Family tree | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |!| | | | |}} | ||
{{Family tree | {{Family tree | | | | | | |)| D06 | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |)| K06 | |D06=MCM4 deficiency|K06=Calcium Channel Defects(ORAI-1 deficiency, STIM1 deficiency)}} | ||
{{Family tree | {{Family tree | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |!| | | | |}} | ||
{{Family tree | {{Family tree | | | | | | |)| D07 | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |)| K07 | |D07=RNF168 deficiency|K07=Hennekam-lymphangiectasia-lymphedema syndrome}} | ||
{{Family tree | {{Family tree | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |!| | | | |}} | ||
{{Family tree | {{Family tree | | | | | | |)| D08 | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |)| K08 | |D08=POLE1 deficiency|K08=STAT5b deficiency}} | ||
{{Family tree | {{Family tree | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |!| | | | |}} | ||
{{Family tree | {{Family tree | | | | | | |)| D09 | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |`| K09 | |D09=POLE2 deficiency|K09=Kabuki Syndrome}} | ||
{{Family tree | {{Family tree | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}} | ||
{{Family tree | {{Family tree | | | | | | |)| D10 | | | | | | | | | | | | | | | | | | | | | |D10=NSMCE3 deficiency}} | ||
{{Family tree | {{Family tree | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | |}} | ||
{{Family tree | {{Family tree | | | | | | |)| D11 | | | | | | | | | | | | | | | | | | | | | |D11=ERCC6L2(Hebo deficiency)}} | ||
{{Family tree | {{Family tree | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | |}} | ||
{{Family tree | {{Family tree | | | | | | |)| D12 | | | | | | | | | | | | | | | | | | | | | |D12=Ligase 1 deficiency}} | ||
{{Family tree | {{Family tree | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | |}} | ||
{{Family tree | {{Family tree | | | | | | |`| D13 | | | | | | | | | | | | | | | | | | | | | |D13=GINS1 deficiency}} | ||
{{Family tree/end}} | {{Family tree/end}} | ||
==References== | ==References== | ||
Revision as of 18:03, 10 October 2018
| Combined immunodeficiency | |
| ICD-10 | D81 |
|---|---|
| ICD-9 | 279.2 |
|
Immunodeficiency Main Page |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Classification
| Combined Immunodeficiency Diseases with associated or syndromic features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital thromocytopenia | DNA Repair Defects | Immuno-osseous dysplasias | Thymic Defects with additional congenital anomalies | Hyper-IgE syndromes(HIES) | Dyskeratosis congenita (DKC) | Defects of Vitamin B12 and Folate metabolism | Anhidrotic Ectodermodysplasia with ID | Others | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wiskott Aldrich Syndrome | Ataxia telangiectasia | Cartilage Hair Hypoplasia | DiDeorge Syndrome | Job Syndrome | Dyskeratosis congenita | Transcobalmin 2 deficiency | NEMO deficiency | Purine nucleoside phosphorylase deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| XL thrombocytopenia | Nijmegen breakage Syndrome | Schimke Syndrome | TBX1 deficiency | Comel Netherton Syndrome | COATS plus syndrome | Deficiency causing hereditary folate malabsorption | EDA-ID due to IKBA GOF mutation | ID with multiple intestinal atresias | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WIP deficiency | Bloom syndrome | MYSM1 deficiency | Chromosome 10p13-p14 deletion Syndrome | PGM3 deficiency | SAMD9 | Methylene-tetrahydrofolate-dehydrogenase 1 deficiency | Hepatic veno-occlusive disease with immunodeficiency | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ARPC1B deficiency | PMS2 deficiency | MOPD1 deficiency | CHARGE Syndrome | SAMD9L | Vici Syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Immunodeficiency with centromeric instability and facial anomalies(ICF1, ICF2, ICF3, ICF4) | EXTL3 deficiency | HOIL1 deficiency, HOIP1 deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| MCM4 deficiency | Calcium Channel Defects(ORAI-1 deficiency, STIM1 deficiency) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RNF168 deficiency | Hennekam-lymphangiectasia-lymphedema syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POLE1 deficiency | STAT5b deficiency | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| POLE2 deficiency | Kabuki Syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NSMCE3 deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ERCC6L2(Hebo deficiency) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ligase 1 deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GINS1 deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||