Combined immunodeficiency: Difference between revisions
No edit summary |
No edit summary |
||
| Line 59: | Line 59: | ||
WIP DEFICIENCY*WISKOTT-ALDRICH SYNDROME PROTEIN-INTERACTING PROTEIN; gene :WIPF1,Cytogenetic location: 2q31.1 .phenotype :?Wiskott-Aldrich syndrome 2 | WIP DEFICIENCY*WISKOTT-ALDRICH SYNDROME PROTEIN-INTERACTING PROTEIN; gene :WIPF1,Cytogenetic location: 2q31.1 .phenotype :?Wiskott-Aldrich syndrome 2 | ||
In T lymphocytes, WASP is almost totally complexed with the WASP-interacting protein (WIP). A major function of WIP is to stabilize WASP and prevent its degradation. WASP protein levels, but not mRNA levels, are severely reduced in T cells <ref name="pmid1783416">{{cite journal |vauthors=Pawłowski R |title=Distribution of common phenotypes of sperm diaphorase (DIA3) in the Polish population |journal=Hum. Hered. |volume=41 |issue=4 |pages=279–80 |date=1991 |pmid=1783416 |doi=10.1159/000154013 |url=}}</ref>* | In T lymphocytes, WASP is almost totally complexed with the WASP-interacting protein (WIP). A major function of WIP is to stabilize WASP and prevent its degradation. WASP protein levels, but not mRNA levels, are severely reduced in T cells <ref name="pmid1783416">{{cite journal |vauthors=Pawłowski R |title=Distribution of common phenotypes of sperm diaphorase (DIA3) in the Polish population |journal=Hum. Hered. |volume=41 |issue=4 |pages=279–80 |date=1991 |pmid=1783416 |doi=10.1159/000154013 |url=}}</ref>* | ||
===ATAXIA-TELANGIECTASIA=== | |||
Ataxia-telangiectasia (AT) is an autosomal recessive characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, radiosensitivity, predisposition to lymphoid malignancies and immunodeficiency,The ATM gene is related to a family of genes involved in cellular responses to DNA damage and/or cell cycle control with defects in both cellular and humoral immunity <ref name="pmid9143686">{{cite journal |vauthors=Lavin MF, Shiloh Y |title=The genetic defect in ataxia-telangiectasia |journal=Annu. Rev. Immunol. |volume=15 |issue= |pages=177–202 |date=1997 |pmid=9143686 |doi=10.1146/annurev.immunol.15.1.177 |url=}}</ref>.*Gene locus :ATM located on | Ataxia-telangiectasia (AT) is an autosomal recessive characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, radiosensitivity, predisposition to lymphoid malignancies and immunodeficiency,The ATM gene is related to a family of genes involved in cellular responses to DNA damage and/or cell cycle control with defects in both cellular and humoral immunity <ref name="pmid9143686">{{cite journal |vauthors=Lavin MF, Shiloh Y |title=The genetic defect in ataxia-telangiectasia |journal=Annu. Rev. Immunol. |volume=15 |issue= |pages=177–202 |date=1997 |pmid=9143686 |doi=10.1146/annurev.immunol.15.1.177 |url=}}</ref>.*Gene locus :ATM located on | ||
11q22.3.it it is diagnosed by | 11q22.3.it it is diagnosed by | ||
Revision as of 15:00, 6 November 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
| 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wiskott-Aldrich Syndrome
Wiskott–Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder characterized by the triad of eczema, microthrombocytopenia, and severe and often recurrent infections caused by mutation of WASp gene.[1]
- WASp is involved in actin polymerization and associated coupling of receptor engagement, signaling events, and cytoskeletal rearrangement[2]
Allogeneic stem cell transplantation is the only curative treatment for Wiskott-Aldrich syndrome[3]
*X-linked thrombocytopenia (XLT), sometimes associated with mild eczema and/or infections, was recognized in the 1960s and was suspected to be a variant of WAS.patients with XLT shown to have mutations in the Wiskott-Aldrich syndrome protein gene (WAS).
X-linked thrombocytopenia (XLT) should be suspected in a male with:
- Congenital thrombocytopenia (5,000-50,000 platelets/mm3)
- Small platelet size (platelet volume <7.5 fL)
- Absence of other clinical findings of Wiskott-Aldrich syndrome
- Family history of one or more maternally related males with a WAS-related phenotype or disorder
- Decreased or absent WASP by flow cytometry or western blotting
- Some affected individuals have near-normal amounts of WAS
WIP DEFICIENCY*WISKOTT-ALDRICH SYNDROME PROTEIN-INTERACTING PROTEIN; gene :WIPF1,Cytogenetic location: 2q31.1 .phenotype :?Wiskott-Aldrich syndrome 2 In T lymphocytes, WASP is almost totally complexed with the WASP-interacting protein (WIP). A major function of WIP is to stabilize WASP and prevent its degradation. WASP protein levels, but not mRNA levels, are severely reduced in T cells [4]*
ATAXIA-TELANGIECTASIA
Ataxia-telangiectasia (AT) is an autosomal recessive characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, radiosensitivity, predisposition to lymphoid malignancies and immunodeficiency,The ATM gene is related to a family of genes involved in cellular responses to DNA damage and/or cell cycle control with defects in both cellular and humoral immunity [5].*Gene locus :ATM located on 11q22.3.it it is diagnosed by Diagnosis is usually achieved by examination and identification of both ataxia and oculo-cutaneous telangiectasia. This is then followed by laboratory tests for low levels of IgA, IgG2, IgG4, and IgE. Sufferers may also have a low lymphocyte count and other immunological abnormalities. This can then be followed by cytogenetic and molecular testing to confirm the diagnosis. MRI and CT scans may show signs of cerebellar atrophy.
BLOOM SYNDROME
A number sign (#) is used with this entry because Bloom syndrome (BLM), also referred to here as microcephaly, growth restriction, and increased sister chromatid exchange-1 (MGRISCE1), is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein-like-3 (RECQL3; 604610) on chromosome 15q26.
References
- ↑ Buchbinder D, Nugent DJ, Fillipovich AH (2014). "Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments". Appl Clin Genet. 7: 55–66. doi:10.2147/TACG.S58444. PMC 4012343. PMID 24817816.
- ↑ Buchbinder D, Nugent DJ, Fillipovich AH (2014). "Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments". Appl Clin Genet. 7: 55–66. doi:10.2147/TACG.S58444. PMC 4012343. PMID 24817816.
- ↑ Muñoz A, Olivé T, Martinez A, Bureo E, Maldonado MS, Diaz de Heredia C, Sastre A, Gonzalez-Vicent M (September 2007). "Allogeneic hemopoietic stem cell transplantation (HSCT) for Wiskott-Aldrich syndrome: a report of the Spanish Working Party for Blood and Marrow Transplantation in Children (GETMON)". Pediatr Hematol Oncol. 24 (6): 393–402. doi:10.1080/08880010701454404. PMID 17710656.
- ↑ Pawłowski R (1991). "Distribution of common phenotypes of sperm diaphorase (DIA3) in the Polish population". Hum. Hered. 41 (4): 279–80. doi:10.1159/000154013. PMID 1783416.
- ↑ Lavin MF, Shiloh Y (1997). "The genetic defect in ataxia-telangiectasia". Annu. Rev. Immunol. 15: 177–202. doi:10.1146/annurev.immunol.15.1.177. PMID 9143686.
BLOOM SYNDROME
A number sign (#) is used with this entry because Bloom syndrome (BLM), also referred to here as microcephaly, growth restriction, and increased sister chromatid exchange-1 (MGRISCE1), is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein-like-3 (RECQL3; 604610) on chromosome 15q26.