Published: 2019-10-21

A case of primary immunodeficiency: hyper IgM syndrome

Madhura P. Fadnis, Pratibha B. Shamkuwar


Hyper IgM syndrome are group to disorders characterized by elevated serum level of IgM and low or absent serum levels of IgG, IgA and IgE the mechanism of HIGM is immunoglobulin Class-Switch Recombination (CSR) failure and Somatic Hyper Mutation (SHM). This diagnosis should be considered in any patient presenting with hypogammaglobulinemia, with low or absent IgG and IgA and normal or elevated IgM level. In the present case report, this was a 6-year-old male child who had history of recurrent respiratory tract infections who presented with otitis media and persistent fever spikes. Immunoglobulin studies revealed a pattern consistent with hyper IgM.


Citrobacter, Class-switch recombination, CSOM (Chronic Suppurative Otitis Media), HIGM (Hyper-IgM syndrome), IVIG (Intravenous Immunoglobulin), Tuberculosis

Full Text:



Qamar N, Fuleihan RL. The hyper IgM syndromes. Clini Rev Aller Immunol. 2014 Apr 1;46(2):120-30.

Silva R, Da Costa JT. Hyper-IgM syndrome-a case report and a clinical perspective. Eur Ann Aller Clin Immunol. 2010;42(5):194-6.

Davies EG, Thrasher AJ. Update on the hyper immunoglobulin M syndromes. Br J Haematol. 2010;149:167-80.

Guo L, Chen B, Xu B, Lu M, Ning B, Chen Z. X-Linked Hyper-Igm Syndrome with Eosinophilia In A Male Child: A Case Report Exp Ther Med. 2015;9(4):1328-30.

Davies EG, Thrasher AJ. Update on the hyper immunoglobulin M syndromes. Br J Haematol. 2010;149:167-80.

Cabral-Marques O, Klaver S, Schimke LF, Ascendino ÉH, Khan TA, Pereira PV, et al. First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes. J Clini Immunol. 2014 Feb 1;34(2):146-56.

Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine. 2003 Nov 1;82(6):373-84.

Jesus AA, Duarte AJ, Oliveira JB. Autoimmunity in hyper-IgM syndrome. J Clin Immunol. 2008;28(1):S62-S6.

Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, et al. Corrigendum: Primary immunodeficiency diseases: An update on the classification from the International Union of Immunological Societies Expert Committee for primary immunodeficiency. Frontiers Immunol. 2014 Sep 24;5:460.