Hyper-IgM syndrome type 1 This conditionis inherited in an X-linked recessive manner Hyper IgM Syndrome Type 1 (HIGM-1) is the X-linked variant of the hyper IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele. ## Contents * 1 Signs and symptoms * 2 Genetics * 3 Diagnosis * 4 Treatment * 5 References * 6 External links ## Signs and symptoms[edit | edit source] A patient presenting with hyper IgM syndrome may be affected by simple infectious organisms in exposed regions like the respiratory system. Vaccination against pathogenic organisms may not help these individuals, because vaccinating them does not properly stimulate production of antibodies. Symptoms can include: * Fever (recurrent infections) * Low counts of IgA, IgG and IgE antibodies * CD40L not reactive in T cells * Recurrent sinopulmonary and GI infections with pyogenic bacteria and opportunistic organisms, and cutaneous manifestations including pyodermas extensive warts.[1] ## Genetics[edit | edit source] a,b)CD40LG gene analysis of individual and his mother This variant of the hyper IgM syndrome is caused by mutation of the CD40LG gene. The genetic locus for this gene is Xq26. This gene codes for the CD40 ligand, which is expressed on T cells. When the CD40 ligand binds CD40 on B cells, then the B cell switches from producing IgM to producing IgA or IgG. In these patients a biopsy of a lymph node may show poor development of structural and germinal centers because of the lack of activation of B cells by the T cells in them. ## Diagnosis[edit | edit source] In terms of the diagnosis of this condition the following is done:[2] * Medical exam * Medical history * Genetic test ## Treatment[edit | edit source] Patients presenting with this disease undergo antibiotic treatment and gammaglobulin transfusions. Antibiotics are used to fight off the pathogenic organisms and the gammaglobulin helps provide a normal balance of antibodies to fight the infection. Bone marrow transplantation may be an option in some cases.[3] ## References[edit | edit source] 1. ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 817\. ISBN 978-1-4160-2999-1. 2. ↑ "Immunodeficiency with hyper IgM type 1 - Diagnosis & Treatment - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on 12 May 2022. Retrieved 11 May 2022. 3. ↑ "308230". Archived from the original on 2010-03-05. Retrieved 2021-03-23. ## External links[edit | edit source] Classification| * ICD-10: D80.5 * ICD-9-CM: 279.05 * MeSH: D053307 | * v * t * e Lymphoid and complement disorders causing immunodeficiency Primary| | Antibody/humoral (B)| | Hypogammaglobulinemia| * X-linked agammaglobulinemia * Transient hypogammaglobulinemia of infancy | Dysgammaglobulinemia| * IgA deficiency * IgG deficiency * IgM deficiency * Hyper IgM syndrome (1 * 2 * 3 * 4 * 5) * Wiskott–Aldrich syndrome * Hyper-IgE syndrome Other| * Common variable immunodeficiency * ICF syndrome T cell deficiency (T)| * thymic hypoplasia: hypoparathyroid (Di George's syndrome) * euparathyroid (Nezelof syndrome * Ataxia–telangiectasia) peripheral: Purine nucleoside phosphorylase deficiency * Hyper IgM syndrome (1) Severe combined (B+T)| * x-linked: X-SCID autosomal: Adenosine deaminase deficiency * Omenn syndrome * ZAP70 deficiency * Bare lymphocyte syndrome Acquired| * HIV/AIDS Leukopenia: Lymphocytopenia| * Idiopathic CD4+ lymphocytopenia Complement deficiency| * C1-inhibitor (Angioedema/Hereditary angioedema) * Complement 2 deficiency/Complement 4 deficiency * MBL deficiency * Properdin deficiency * Complement 3 deficiency * Terminal complement pathway deficiency * Paroxysmal nocturnal hemoglobinuria * Complement receptor deficiency * v * t * e X-linked disorders X-linked recessive Immune| * Chronic granulomatous disease (CYBB) * Wiskott–Aldrich syndrome * X-linked severe combined immunodeficiency * X-linked agammaglobulinemia * Hyper-IgM syndrome type 1 * IPEX * X-linked lymphoproliferative disease * Properdin deficiency Hematologic| * Haemophilia A * Haemophilia B * X-linked sideroblastic anemia Endocrine| * Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy * KAL1 Kallmann syndrome * X-linked adrenal hypoplasia congenita Metabolic| * Amino acid: Ornithine transcarbamylase deficiency * Oculocerebrorenal syndrome * Dyslipidemia: Adrenoleukodystrophy * Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency * Pyruvate dehydrogenase deficiency * Danon disease/glycogen storage disease Type IIb * Lipid storage disorder: Fabry's disease * Mucopolysaccharidosis: Hunter syndrome * Purine–pyrimidine metabolism: Lesch–Nyhan syndrome * Mineral: Menkes disease/Occipital horn syndrome Nervous system| * X-linked intellectual disability: Coffin–Lowry syndrome * MASA syndrome * Alpha-thalassemia mental retardation syndrome * Siderius X-linked mental retardation syndrome * Eye disorders: Color blindness (red and green, but not blue) * Ocular albinism (1) * Norrie disease * Choroideremia * Other: Charcot–Marie–Tooth disease (CMTX2-3) * Pelizaeus–Merzbacher disease * SMAX2 Skin and related tissue| * Dyskeratosis congenita * Hypohidrotic ectodermal dysplasia (EDA) * X-linked ichthyosis * X-linked endothelial corneal dystrophy Neuromuscular| * Becker's muscular dystrophy/Duchenne * Centronuclear myopathy (MTM1) * Conradi–Hünermann syndrome * Emery–Dreifuss muscular dystrophy 1 Urologic| * Alport syndrome * Dent's disease * X-linked nephrogenic diabetes insipidus Bone/tooth| * AMELX Amelogenesis imperfecta No primary system| * Barth syndrome * McLeod syndrome * Smith–Fineman–Myers syndrome * Simpson–Golabi–Behmel syndrome * Mohr–Tranebjærg syndrome * Nasodigitoacoustic syndrome X-linked dominant * X-linked hypophosphatemia * Focal dermal hypoplasia * Fragile X syndrome * Aicardi syndrome * Incontinentia pigmenti * Rett syndrome * CHILD syndrome * Lujan–Fryns syndrome * Orofaciodigital syndrome 1 * Craniofrontonasal dysplasia *[v]: View this template *[t]: Discuss this template *[e]: Edit this template