Combined immunodeficiency: Difference between revisions
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==BLOOM SYNDROME== | ==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. | 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. | ||
==ARPC1B DEFICIENCY== | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} |
Revision as of 16:09, 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] Anum Gull M.B.B.S.[4]
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)
Presents 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
(WIP)WISKOTT-ALDRICH-INTERACTING PROTEIN; gene :WIPF1 is located on 2q31.1 . 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].
- ATM gene is located on 11q22.3.
- Diagnosis is usually achieved by pysical 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
- They 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.
ARPC1B DEFICIENCY
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.