Diseases of immune dysregulation: Difference between revisions
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* Hermansky pudlak syndrome type 2 is caused by homozygous or compound heterogenous [[autosomal recessive]] mutation in the gene encoding the beta-3A subunit of AP3 complex (AP3B1) on chromosome 5q14.<ref name="Jung2006">{{cite journal|last1=Jung|first1=J.|title=Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2|journal=Blood|volume=108|issue=1|year=2006|pages=362–369|issn=0006-4971|doi=10.1182/blood-2005-11-4377}}</ref> | * Hermansky pudlak syndrome type 2 is caused by homozygous or compound heterogenous [[autosomal recessive]] mutation in the gene encoding the beta-3A subunit of AP3 complex (AP3B1) on chromosome 5q14.<ref name="Jung2006">{{cite journal|last1=Jung|first1=J.|title=Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2|journal=Blood|volume=108|issue=1|year=2006|pages=362–369|issn=0006-4971|doi=10.1182/blood-2005-11-4377}}</ref> | ||
* It is characterized by platelet defects, oculocutaneous albinism, immunodeficiency and congenital neutropenia.<ref name="Jung2006">{{cite journal|last1=Jung|first1=J.|title=Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2|journal=Blood|volume=108|issue=1|year=2006|pages=362–369|issn=0006-4971|doi=10.1182/blood-2005-11-4377}}</ref> | * It is characterized by platelet defects, oculocutaneous albinism, immunodeficiency and congenital neutropenia.<ref name="Jung2006">{{cite journal|last1=Jung|first1=J.|title=Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2|journal=Blood|volume=108|issue=1|year=2006|pages=362–369|issn=0006-4971|doi=10.1182/blood-2005-11-4377}}</ref> | ||
* | * Treatment includes chronic antibiotic therapy and granulocyte colony stimulating factor (G-CSF) because of netropenia and management of complications as they arise.<ref name="HengstNaehrlich2018">{{cite journal|last1=Hengst|first1=Meike|last2=Naehrlich|first2=Lutz|last3=Mahavadi|first3=Poornima|last4=Grosse-Onnebrink|first4=Joerg|last5=Terheggen-Lagro|first5=Suzanne|last6=Skanke|first6=Lars Høsøien|last7=Schuch|first7=Luise A.|last8=Brasch|first8=Frank|last9=Guenther|first9=Andreas|last10=Reu|first10=Simone|last11=Ley-Zaporozhan|first11=Julia|last12=Griese|first12=Matthias|title=Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood|journal=Orphanet Journal of Rare Diseases|volume=13|issue=1|year=2018|issn=1750-1172|doi=10.1186/s13023-018-0780-z}}</ref> | ||
== Hermansky Pudlak Syndrome type 10== | == Hermansky Pudlak Syndrome type 10== | ||
Revision as of 21:54, 17 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: Zahir Ali Shaikh, MD[2], Anmol Pitliya, M.B.B.S. M.D.[3]
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 caused by homozygous or compound heterogenous autosomal recessive mutation in the lysosomal trafficking gene (LYST) on chromosome 1q42.[1]
- It is characterized by photophobia, nystagmus, partial albinism, neutropenia, abnormal susceptibility to infections and malignant lymphoma, large eosinophilic peroxidase positive inclusion bodies in myeloblasts and promyelocytes of bone marrow.[2]
- The most effective treatment is hematopoeitic stem cell transplantation.[3]
- For more information on Chediak Higashi syndrome, click here.
Griscelli Syndrome type 2
- Griscelli syndrome type 2 is a rare autosomal recessive disease caused by mutation in the RAB27A gene. [4]
- It is characterized by partial albinism, immunodeficiency, organomegaly and accelerated phases which includes hemophagocytosis, pancytopenia and neurological deterioration.[5]
- The only curative treatment is hematopoeitic stem cell transplantation.[6]
Hermansky Pudlak Syndrome type 2
- Hermansky pudlak syndrome type 2 is caused by homozygous or compound heterogenous autosomal recessive mutation in the gene encoding the beta-3A subunit of AP3 complex (AP3B1) on chromosome 5q14.[7]
- It is characterized by platelet defects, oculocutaneous albinism, immunodeficiency and congenital neutropenia.[7]
- Treatment includes chronic antibiotic therapy and granulocyte colony stimulating factor (G-CSF) because of netropenia and management of complications as they arise.[8]
Hermansky Pudlak Syndrome type 10
References
- ↑ M. D. Barbosa, Q. A. Nguyen, V. T. Tchernev, J. A. Ashley, J. C. Detter, S. M. Blaydes, S. J. Brandt, D. Chotai, C. Hodgman, R. C. Solari, M. Lovett & S. F. Kingsmore (1996). "Identification of the homologous beige and Chediak-Higashi syndrome genes". Nature. 382 (6588): 262–265. doi:10.1038/382262a0. PMID 8717042. Unknown parameter
|month=ignored (help) - ↑ Kaplan, Jerry; De Domenico, Ivana; Ward, Diane McVey (2008). "Chediak-Higashi syndrome". Current Opinion in Hematology. 15 (1): 22–29. doi:10.1097/MOH.0b013e3282f2bcce. ISSN 1065-6251.
- ↑ M. Eapen, C. A. DeLaat, K. S. Baker, M. S. Cairo, M. J. Cowan, J. Kurtzberg, C. G. Steward, P. A. Veys & A. H. Filipovich (2007). "Hematopoietic cell transplantation for Chediak-Higashi syndrome". Bone marrow transplantation. 39 (7): 411–415. doi:10.1038/sj.bmt.1705600. PMID 17293882. Unknown parameter
|month=ignored (help) - ↑ Kirtisudha Mishra, Shilpy Singla, Suvasini Sharma, Renu Saxena & Vineeta Vijay Batra (2014). "Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum". Korean journal of pediatrics. 57 (2): 91–95. doi:10.3345/kjp.2014.57.2.91. PMID 24678334. Unknown parameter
|month=ignored (help) - ↑ I. P. Meschede, T. O. Santos, T. C. Izidoro-Toledo, J. Gurgel-Gianetti & E. M. Espreafico (2008). "Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure". Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas. 41 (10): 839–848. PMID 19030707. Unknown parameter
|month=ignored (help) - ↑ Amira Masri, Faris G. Bakri, Maissa Al-Hussaini, Azmy Al-Hadidy, Rania Hirzallah, Genevieve de Saint Basile & Hanan Hamamy (2008). "Griscelli syndrome type 2: a rare and lethal disorder". Journal of child neurology. 23 (8): 964–967. doi:10.1177/0883073808315409. PMID 18403584. Unknown parameter
|month=ignored (help) - ↑ 7.0 7.1 Jung, J. (2006). "Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2". Blood. 108 (1): 362–369. doi:10.1182/blood-2005-11-4377. ISSN 0006-4971.
- ↑ Hengst, Meike; Naehrlich, Lutz; Mahavadi, Poornima; Grosse-Onnebrink, Joerg; Terheggen-Lagro, Suzanne; Skanke, Lars Høsøien; Schuch, Luise A.; Brasch, Frank; Guenther, Andreas; Reu, Simone; Ley-Zaporozhan, Julia; Griese, Matthias (2018). "Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood". Orphanet Journal of Rare Diseases. 13 (1). doi:10.1186/s13023-018-0780-z. ISSN 1750-1172.