Diseases of immune dysregulation: Difference between revisions
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==RASGRP1 Deficiency== | ==RASGRP1 Deficiency== | ||
* RASGRP1 deficiency is caused by | * RASGRP1 deficiency is caused by | ||
* | * RASGRP1 deficiency causes severe autoimmune manifestations, life threatening immune dysregulation and susceptibility to EBV induced B cell malignancies.<ref>{{Cite journal | ||
| author = [[Ido Somekh]], [[Benjamin Marquardt]], [[Yanshan Liu]], [[Meino Rohlfs]], [[Sebastian Hollizeck]], [[Musa Karakukcu]], [[Ekrem Unal]], [[Ebru Yilmaz]], [[Turkan Patiroglu]], [[Murat Cansever]], [[Shirly Frizinsky]], [[Vicktoria Vishnvenska-Dai]], [[Erez Rechavi]], [[Tali Stauber]], [[Amos J. Simon]], [[Atar Lev]], [[Christoph Klein]], [[Daniel Kotlarz]] & [[Raz Somech]] | |||
| title = Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma | |||
| journal = [[Journal of clinical immunology]] | |||
| volume = 38 | |||
| issue = 6 | |||
| pages = 699–710 | |||
| year = 2018 | |||
| month = August | |||
| doi = 10.1007/s10875-018-0533-8 | |||
| pmid = 30030704 | |||
}}</ref> | |||
==CD70 Deficiency== | ==CD70 Deficiency== | ||
Revision as of 13:58, 22 October 2018
|
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 | UNC13D/Munc13-4 deficiency(FHL3) | CD70 Deficiency | XL,XLP2,XIAP | ||||||||||||||||||||||||||||||||||||||||||
| Hermansky Pudlak Syndrome type2:AP3B1 | Syntaxin 11 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, congenital neutropenia and pulmonary fibrosis.[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
- Hermansky pudlak syndrome type 10 is caused by an autosomal recessive mutation in AP3D1 gene on chromosome 19p13.[9]
- It is characterized by immunodeficiency, oculocutaneous albinism and severe neurological impairment including severely delayed global development and intractable seizures.[9]
- Treatment depends upon the manifestations of disease, granulocyte-colony stimulating factor (G-CSF) used when immunodeficiency is present.[10]
Perforin Deficiency
- Perforin is a glycoprotein responsible for pore formation in cell membranes of target cells. The main source of perforin are natural killer (NK) cells and CD8 positive T cells. A low amount of perforin is also expressed by CD4 positive T cells.[11]
- Diseases associated with perforin deficiency/defect include: hemophagocytic lymphohistiocytosis (HLH), leukemias, lymphomas, infectious diseases and autoimmune diseases.[12]
- Treatment depends upon the presentation of disease.[13]
UNC13D/Munc13-4 Deficiency
- Munc13-4 is a RAB27A effector that coordinates exocytosis in hematopoietic cells, its deficiency is associated with human immunodeficiency familial hemophagocytic lymphohistiocytosis type 3.[14]
- It is characterized by the features of hemophagocytic lymphohistiocytosis (HLH) including; fever, hepatosplenomegaly and cytopenias.[15]
- The only curative treatment is allogenic hematopoietic stem cell transplantation.[16]
Syntaxin 11 Deficiency
- Syntaxin 11 deficiency is caused by homozygous mutation in the syntaxin 11 gene located on chromosome 6q24.[17]
- Syntaxin 11 deficiency patients develop familial hemophagocytic lymphohistiocytosis 4(FHL4), characterized by fever, splenomegaly, bicytopenia, low/absent natural killer (NK) cell activity and increased ferritin.[18]
- The only treatment available is hematopoietic stem cell transplantation.[19]
STXBP2/Munc18-2 Deficiency
- STXBP2/Munc18-2 deficiency is caused by homozygous or compound heterogenous mutation in the syntaxin binding protein-2 gene (STXBP-2) on chromosome 19p13. [20]
- STXBP2 deficiency causes familial hemophagocytic lymphohistiocytosis 5(FHL5), characterized by fever, hepatosplenomegaly, bicytopenia, increased triglycerides and ferritin with some atypical features including sensorineural hearing deficit, abnormal bleeding, or severe diarrhea.[21]
- Treatment involves; immunosuppressive and modulatory agents, management of complications and hematopoietic stem cell transplantation.[22]
RASGRP1 Deficiency
- RASGRP1 deficiency is caused by
- RASGRP1 deficiency causes severe autoimmune manifestations, life threatening immune dysregulation and susceptibility to EBV induced B cell malignancies.[23]
CD70 Deficiency
CTPS1 Deficiency
RLTPR (CARMIL2) Deficiency
ITK Deficiency
MAGT1 Deficiency
PRKCD Deficiency
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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.
- ↑ 9.0 9.1 Ammann, S.; Schulz, A.; Krageloh-Mann, I.; Dieckmann, N. M. G.; Niethammer, K.; Fuchs, S.; Eckl, K. M.; Plank, R.; Werner, R.; Altmuller, J.; Thiele, H.; Nurnberg, P.; Bank, J.; Strauss, A.; von Bernuth, H.; zur Stadt, U.; Grieve, S.; Griffiths, G. M.; Lehmberg, K.; Hennies, H. C.; Ehl, S. (2016). "Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome". Blood. 127 (8): 997–1006. doi:10.1182/blood-2015-09-671636. ISSN 0006-4971.
- ↑ . doi:10.1111/pde.13266. Epub 2017 Oct 16. Check
|doi=value (help). Missing or empty|title=(help) - ↑ Iwona Osinska, Katarzyna Popko & Urszula Demkow (2014). "Perforin: an important player in immune response". Central-European journal of immunology. 39 (1): 109–115. doi:10.5114/ceji.2014.42135. PMID 26155110.
- ↑ Iwona Osinska, Katarzyna Popko & Urszula Demkow (2014). "Perforin: an important player in immune response". Central-European journal of immunology. 39 (1): 109–115. doi:10.5114/ceji.2014.42135. PMID 26155110.
- ↑ Iwona Osinska, Katarzyna Popko & Urszula Demkow (2014). "Perforin: an important player in immune response". Central-European journal of immunology. 39 (1): 109–115. doi:10.5114/ceji.2014.42135. PMID 26155110.
- ↑ Jlenia Monfregola, Jennifer Linda Johnson, Michael M. Meijler, Gennaro Napolitano & Sergio Daniel Catz (2012). "MUNC13-4 protein regulates the oxidative response and is essential for phagosomal maturation and bacterial killing in neutrophils". The Journal of biological chemistry. 287 (53): 44603–44618. doi:10.1074/jbc.M112.414029. PMID 23115246. Unknown parameter
|month=ignored (help) - ↑ A. Santoro, S. Cannella, G. Bossi, F. Gallo, A. Trizzino, D. Pende, F. Dieli, G. Bruno, J. C. Stinchcombe, C. Micalizzi, C. De Fusco, C. Danesino, L. Moretta, L. D. Notarangelo, G. M. Griffiths & M. Arico (2006). "Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis". Journal of medical genetics. 43 (12): 953–960. doi:10.1136/jmg.2006.041863. PMID 16825436. Unknown parameter
|month=ignored (help) - ↑ Tayebeh Soheili, Amandine Durand, Fernando E. Sepulveda, Julie Riviere, Chantal Lagresle-Peyrou, Hanem Sadek, Genevieve de Saint Basile, Samia Martin, Fulvio Mavilio, Marina Cavazzana & Isabelle Andre-Schmutz (2017). "Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency". Blood advances. 1 (27): 2781–2789. doi:10.1182/bloodadvances.2017012088. PMID 29296930. Unknown parameter
|month=ignored (help) - ↑ Valentina Cetica, Daniela Pende, Gillian M. Griffiths & Maurizio Arico (2010). "Molecular basis of familial hemophagocytic lymphohistiocytosis". Haematologica. 95 (4): 538–541. doi:10.3324/haematol.2009.019562. PMID 20378576. Unknown parameter
|month=ignored (help) - ↑ Tamara Kogl, Jurgen Muller, Birthe Jessen, Annette Schmitt-Graeff, Gritta Janka, Stephan Ehl, Udo zur Stadt & Peter Aichele (2013). "Hemophagocytic lymphohistiocytosis in syntaxin-11-deficient mice: T-cell exhaustion limits fatal disease". Blood. 121 (4): 604–613. doi:10.1182/blood-2012-07-441139. PMID 23190531. Unknown parameter
|month=ignored (help) - ↑ Martha-Lena Muller, Samuel C. C. Chiang, Marie Meeths, Bianca Tesi, Miriam Entesarian, Daniel Nilsson, Stephanie M. Wood, Magnus Nordenskjold, Jan-Inge Henter, Ahmed Naqvi & Yenan T. Bryceson (2014). "An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2". Frontiers in immunology. 4: 515. doi:10.3389/fimmu.2013.00515. PMID 24459464. Unknown parameter
|month=ignored (help) - ↑ Udo zur Stadt, Jan Rohr, Wenke Seifert, Florian Koch, Samantha Grieve, Julia Pagel, Julia Strauss, Brigitte Kasper, Gudrun Nurnberg, Christian Becker, Andrea Maul-Pavicic, Karin Beutel, Gritta Janka, Gillian Griffiths, Stephan Ehl & Hans Christian Hennies (2009). "Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11". American journal of human genetics. 85 (4): 482–492. doi:10.1016/j.ajhg.2009.09.005. PMID 19804848. Unknown parameter
|month=ignored (help) - ↑ Julia Pagel, Karin Beutel, Kai Lehmberg, Florian Koch, Andrea Maul-Pavicic, Anna-Katharina Rohlfs, Abdullah Al-Jefri, Rita Beier, Lilian Bomme Ousager, Karoline Ehlert, Ute Gross-Wieltsch, Norbert Jorch, Bernhard Kremens, Arnulf Pekrun, Monika Sparber-Sauer, Ester Mejstrikova, Angela Wawer, Stephan Ehl, Udo zur Stadt & Gritta Janka (2012). "Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)". Blood. 119 (25): 6016–6024. doi:10.1182/blood-2011-12-398958. PMID 22451424. Unknown parameter
|month=ignored (help) - ↑ Melissa R. George (2014). "Hemophagocytic lymphohistiocytosis: review of etiologies and management". Journal of blood medicine. 5: 69–86. doi:10.2147/JBM.S46255. PMID 24966707.
- ↑ Ido Somekh, Benjamin Marquardt, Yanshan Liu, Meino Rohlfs, Sebastian Hollizeck, Musa Karakukcu, Ekrem Unal, Ebru Yilmaz, Turkan Patiroglu, Murat Cansever, Shirly Frizinsky, Vicktoria Vishnvenska-Dai, Erez Rechavi, Tali Stauber, Amos J. Simon, Atar Lev, Christoph Klein, Daniel Kotlarz & Raz Somech (2018). "Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma". Journal of clinical immunology. 38 (6): 699–710. doi:10.1007/s10875-018-0533-8. PMID 30030704. Unknown parameter
|month=ignored (help)