Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome

Combined immunodeficiency (SCID) can be isolated and involve the immune system only or associated with abnormalities affecting other organs, mainly the skeletal and neurological systems. We report on sisters, born to consanguineous parents, with CID, facial dysmorphism, developmental delay, optic atrophy, myoclonic seizures, and skeletal anomalies. To the best of our knowledge, this is a hitherto new syndrome with most probably autosomal recessive inheritance and unknown etiology.

[1]  J. Jaeken,et al.  Congenital disorders of glycosylation , 2010, Annals of the New York Academy of Sciences.

[2]  R. Somech,et al.  Matched unrelated bone marrow transplant for T+ combined immunodeficiency , 2008, Bone Marrow Transplantation.

[3]  D. Schlessinger,et al.  Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability , 2007, American journal of medical genetics. Part A.

[4]  F. Donnerstag,et al.  Cerebellar atrophy in Schimke‐immuno‐osseous dysplasia , 2007, American journal of medical genetics. Part A.

[5]  J. Kohyama,et al.  Sibling cases of Vici syndrome: Sleep abnormalities and complications of renal tubular acidosis , 2007, American journal of medical genetics. Part A.

[6]  P. D. de Vries,et al.  The cognitive and behavioural phenotype of Roifman syndrome. , 2006, Journal of intellectual disability research : JIDR.

[7]  Yiping Gu,et al.  Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome. , 2006, The Journal of allergy and clinical immunology.

[8]  J. Voltarelli,et al.  Griscelli Syndrome: Characterization of a New Mutation and Rescue of T-Cytotoxic Activity by Retroviral Transfer of RAB27A Gene , 2004, Journal of Clinical Immunology.

[9]  I. Melamed,et al.  A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia , 2003, Clinical genetics.

[10]  L. Benson,et al.  Noncompaction of the myocardium associated with Roifman syndrome , 2001, Cardiology in the Young.

[11]  A. Chapelle,et al.  Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia , 2001, Cell.

[12]  H. Freeze,et al.  Congenital disorders of glycosylation: Have you encountered them? , 2000, Genetics in Medicine.

[13]  S. Robertson,et al.  Hypogonadotrophic hypogonadism in Roifman syndrome , 2000, Clinical genetics.

[14]  A. Fischer,et al.  Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome , 2000, Nature Genetics.

[15]  C. Roifman.  Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome , 1999, Clinical genetics.

[16]  J. Carey,et al.  Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review. , 1998, American journal of medical genetics.

[17]  J. Dušek,et al.  Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia). , 1994, American journal of medical genetics.

[18]  D. Cole,et al.  Schimke immuno-osseous dysplasia: case report and review. , 1993, American journal of medical genetics.

[19]  M. Leppert,et al.  Localization of an ataxia-telangiectasia gene to chromosome 11q22–23 , 1988, Nature.

[20]  B. Wolf,et al.  Biotinidase Deficiency a , 1985, Advances in pediatrics.

[21]  I. Kaitila,et al.  The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency. , 1976, The Journal of pediatrics.

[22]  V. McKusick,et al.  DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA. , 1965, Bulletin of the Johns Hopkins Hospital.

[23]  P. M. Kulkarni,et al.  A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia , 2007, American journal of medical genetics. Part A.

[24]  S. Douglas,et al.  Chondroosseous dysplasia in severe combined immunodeficiency due to adenosine deaminase deficiency (chondroosseous dysplasia in ADA deficiency scid) , 2005, Pediatric Radiology.

[25]  G. Abecasis,et al.  Merlin—rapid analysis of dense genetic maps using sparse gene flow trees , 2002, Nature Genetics.

[26]  J. Graham,et al.  Syndromes associated with immunodeficiency. , 1999, Advances in pediatrics.

[27]  R. Boldrini,et al.  Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. , 1988, American journal of medical genetics.