Onychomadesis in a patient with immunoglobulin class switch recombination deficiency.
Immunoglobulin class switch recombination deficiencies (Ig CSR deficiencies) or Hyper IgM syndromes (HIGM) are a group of primary immunodeficiency diseases, characterized by defective CD40 signaling of B cells, resulting in reduced CSR and somatic hypermutation. The affected patients are characterized by low serum levels of IgG and IgA, and normal or elevated levels of IgM, which lead to an increased susceptibility to infections. We describe a 3 year-old boy with frequent bacterial infections of the skin and respiratory tract, mucosal ulcers, and diarrhea. He experienced onychomadesis of both fingernails and toenails during a recent bacterial infection. Quantitative immunoglobulin measurements revealed high levels of serum IgM and very low levels of IgG, IgA, and IgE. Clinical and immunologic studies supported the diagnosis of HIGM. Exclusion of CD40L, CD40, AID and UNG genes by molecular analysis in this patient may suggest a new form of selective CSR deficiency.
Safari
Mojgan
M
Clinical Immunology and Allergy Department, Pediatric Ward, Besat Hospital, Hamadan University of Medical Sciences, Hamadan, Iran. mo_sfr@yahoo.com
Rezaei
Nima
N
Hajilooi
Mehrdad
M
Aghamohammadi
Asghar
A
Pan-Hammarstrom
Qiang
Q
Hammarstrom
Lennart
L
D000900:Anti-Bacterial Agents / Q000008:administration & dosage; D001424:Bacterial Infections / Q000150:complications / Q000276:immunology*; D002452:Cell Count; D002675:Child, Preschool; D006229:Hand Dermatoses / Q000209:etiology; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology; D016756:Immunoglobulins, Intravenous / Q000008:administration & dosage; D008297:Male; D009503:Neutropenia / Q000097:blood / Q000276:immunology; D014009:Onychomycosis / Q000150:complications / Q000276:immunology* / Q000517:prevention & control; D045363:Pneumocystis carinii; D011020:Pneumonia, Pneumocystis / Q000209:etiology; D016176:T-Lymphocyte Subsets / Q000276:immunology
D000900:Anti-Bacterial Agents; D016756:Immunoglobulins, Intravenous