Diseases of immune dysregulation: Difference between revisions
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{{familytree | | | | | | | | | | A01 | | | | | | | | | |A01=Diseases of Immune Dysregulation:<br>(B) Syndromes with Autoimmunity and Others }} | {{familytree | | | | | | | | | | A01 | | | | | | | | | |A01=Diseases of Immune Dysregulation:<br>(B) Syndromes with Autoimmunity and Others }} | ||
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{{familytree | | | | | B01 | | | | | | | | B02 | | | | | | | |B01=Syndromes with Autoimmunity|B02=Immune Dysregulation with Colitis: IBD, Normal Tc & Bc }} | {{familytree | | | | | B01 | | | | | | | | B02 | | | | | | | |B01=Syndromes with Autoimmunity|B02=Immune Dysregulation with Colitis:<br>IBD, Normal Tc & Bc }} | ||
{{familytree | | | | | |!| | | |,|-|-|-|-|-|^|-|v|-|-|-|.| | |}} | {{familytree | | | | | |!| | | |,|-|-|-|-|-|^|-|v|-|-|-|.| | |}} | ||
{{familytree | | | | | C01 | | C02 | | C03 | | C04 | | C05 | |C01=Increased CD4-CD8-TCR alpha/beta (Double Negative T cells)|C02=IL10 Deficiency, IL10, AR|C03=IL10Ra Deficiency, IL10RA, AR|C04=IL10Rb Deficiency, IL10RB, RA|C05=NFATS haploinsufficiency, NAFTS, AD }} | {{familytree | | | | | C01 | | C02 | | C03 | | C04 | | C05 | |C01=Increased CD4-CD8-TCR alpha/beta (Double Negative T cells)|C02=IL10 Deficiency, IL10, AR|C03=IL10Ra Deficiency, IL10RA, AR|C04=IL10Rb Deficiency, IL10RB, RA|C05=NFATS haploinsufficiency, NAFTS, AD }} | ||
Revision as of 19:28, 10 October 2018
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Immunodeficiency Main Page |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Template:Zahir, Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
Classification
| Diseases of Immune Dysregulation | |||||||||||||||||||||||||
| (A) Hemophagocytic lymphohistiocytosis (HLH) & EBV susceptibility | (B) Syndromes with Autoimmunity and Others | ||||||||||||||||||||||||
Hemophagocytic Lymphohistiocytosis (HLH) & EBV Susceptibility
| Diseases Of Immune Dysregulation: (A) Hemophagocytic Lymphohistiocytosis (HLH) & EBV Susceptibility | |||||||||||||||||||||||||||||||||||||||||||||
| Hemophagocytic Lymphohistiocytosis(HLH) | Susceptibility to EBV | ||||||||||||||||||||||||||||||||||||||||||||
| Hypopigmentation | Familial Hemophagocytic Lymphohistiocytosis Syndromes | EBV Associated with HLH | |||||||||||||||||||||||||||||||||||||||||||
| Chediak Higashi Syndrome:LYST | Perforin Deficiency(FHL2) | RASGRP1 Deficiency | XL,XLP1.SH2DIA | ||||||||||||||||||||||||||||||||||||||||||
| Griscelli Syndrome type2:RAB27a | UNCBD/Munc13-4 deficiency(FHL3) | CD70 Deficiency | XL,XLP2,XIAP | ||||||||||||||||||||||||||||||||||||||||||
| Hermansky Pudlak Syndrome type2:AP3B1 | Syntaxin II Deficiency(FHL4) | CTPS1 Deficiency | AR, CD27 Deficiency | ||||||||||||||||||||||||||||||||||||||||||
| Hermansky Pudlak Syndrome type10 | STXBP2/Munc18-2 Deficiency | RLTPR (CARMIL2) Deficiency | FAAP24 Deficiency | ||||||||||||||||||||||||||||||||||||||||||
| ITK Deficiency | |||||||||||||||||||||||||||||||||||||||||||||
| MAGT1 Deficiency | |||||||||||||||||||||||||||||||||||||||||||||
| PRKCD Deficiency | |||||||||||||||||||||||||||||||||||||||||||||
Syndromes with Autoimmunity and Others
| Diseases of Immune Dysregulation: (B) Syndromes with Autoimmunity and Others | |||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromes with Autoimmunity | Immune Dysregulation with Colitis: IBD, Normal Tc & Bc | ||||||||||||||||||||||||||||||||||||||||||||||||
| Increased CD4-CD8-TCR alpha/beta (Double Negative T cells) | IL10 Deficiency, IL10, AR | IL10Ra Deficiency, IL10RA, AR | IL10Rb Deficiency, IL10RB, RA | NFATS haploinsufficiency, NAFTS, AD | |||||||||||||||||||||||||||||||||||||||||||||
| Yes | Occassionally | NO: Regulatory T cells Defects? | |||||||||||||||||||||||||||||||||||||||||||||||
| ALPS, Autoimmune Lymphoproliferative Syndrome | LRBA Deficiency | NO | YES | ||||||||||||||||||||||||||||||||||||||||||||||
| ALPS-FAS TNFRSF, AD or AR | STAT3 GOF mutation,STAT3 AD | Autoimmune Polyendocrinopathy with candidiasis & ectodermal dystrophy: APECED (APS-1) | IPEX Immune dysregulation, Polyendocrinopathy,enteropathy,X-linked FOXP-3 | ||||||||||||||||||||||||||||||||||||||||||||||
| ALPS-FASLG TNFSF6, AR | ITCH Deficiency, ITCH, AR | CD25 Deficiency, IL2RA, AR | |||||||||||||||||||||||||||||||||||||||||||||||
| ALPS-Caspase10, Casp10, AD | ZAP70 combined hylomorphic and activation mutations, ZAP70, AR | CTLA4 deficiency (ALPSV) CTLA4, AD | |||||||||||||||||||||||||||||||||||||||||||||||
| ALPS-Caspase8, Casp8, AR | Tripeptidyl-peptidase II deficiency, TPP2, AR | BACH2 deficiency. BACH2, AD | |||||||||||||||||||||||||||||||||||||||||||||||
| FADD deficiency, FADD, AR | JAK1 GOF, JAK1, AD | ||||||||||||||||||||||||||||||||||||||||||||||||
| Prolidase deficiency. PEPD, AR | |||||||||||||||||||||||||||||||||||||||||||||||||
Chediak Higashi Syndrome
- Chediak Higashi syndrome is due to mutation/loss of LYST gene.
For more information on Chediak Higashi syndrome, click here.