However, two patients with EDA-ID presented with hyper IgM syndrome (67). [lvts.fr]

Retrieved 2 January 2018. ^ a b c d "X-linked Immunodeficiency With Hyper IgM Clinical Presentation: History, Physical, Causes". emedicine.medscape.com. [en.wikipedia.org]

and autoimmune disorders may be present. [msdmanuals.com]

Prevalence: - Inheritance: - Age of onset: - ICD-10: D80.5 OMIM: 605258 608106 608184 UMLS: - MeSH: - GARD: - MedDRA: - A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) The documents contained in this web site are presented [orpha.net]

When present, neutropenia may also improve during IgG replacement. [primaryimmune.org]

• Recurrent Bacterial Infection

  Recurrent bacterial infections MedGen UID: 334943 •Concept ID: C1844383 • Finding Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. [ncbi.nlm.nih.gov]

• Sepsis

  HYPER IGM SYNDROME TYPE 4 Affected individuals have developed infections of the sinuses and lungs (sinopulmonary infections), widespread infection of the blood (sepsis), inflammation and infection of the lymph nodes (lymphadenitis), and infection and [rarediseases.org]

• Malaise

  Affected individuals may also be susceptible to Histoplasma capsulatum, a fungus whose spores, when inhaled, may produce histoplasmosis, an infection characterized by fever; cough; a general feeling of ill health (malaise); and/or irregularities of the [rarediseases.org]

• Tonsillar Hypertrophy

  hypertrophy), with no increased susceptibility to opportunistic infections. [orpha.net]

  In 2 of these forms (deficiency of activation-induced cytidine deaminase [AID] or uracil DNA glycosylase [UNG]), serum IgM levels are much higher than in the X-linked form; lymphoid hyperplasia (including lymphadenopathy, splenomegaly, and tonsillar hypertrophy [msdmanuals.com]

Clinical Testing and Workup Blood tests will be ordered to determine the status of immunoglobulins in the blood, including normal or high levels of IgM and low levels of other immunoglobulin classes. [rarediseases.org]

[edit] In terms of treatment for hyper IgM syndrome, there is the use of allogeneic hematopoietic cell transplantation. [en.wikipedia.org]

Gene therapy is also being investigated as a potential treatment for individuals with hyper IgM syndromes. More studies are needed and it’s still too early to tell if gene therapy could offer a viable treatment alternative. [chop.edu]

However, G-CSF treatment is only necessary in selected patients and long-term treatment with G-CSF is usually not recommended. [primaryimmune.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

[…] may need to systematically and comprehensively plan treatment. [rarediseases.org]

PMID: 29255996 Prognosis Chen X, Liu F, Yuan L, Zhang M, Chen K, Wu Y Mol Genet Genomic Med 2021 Jan;9(1):e1552. Epub 2020 Dec 30 doi: 10.1002/mgg3.1552. [ncbi.nlm.nih.gov]

Because of the poor prognosis, the treatment of choice is a human leukocyte antigen (HLA)-identical sibling bone marrow transplant at an early age (62,63). Treatment for this condition also includes monthly IVIG infusions (64). [lvts.fr]

While a permanent cure is anticipated after successful stem cell transplantation, the long-term prognosis for these patients is not yet known. [primaryimmune.org]

Epidemiology Frequency United States In 2003, the US XHIGM registry reported that the minimal incidence rate of XHIGM was approximately 1 in 1,000,000 live births from 1984-1993. [4] This may be an underestimation because not all physicians in the United [emedicine.medscape.com]

This results in an overproduction of IgM antibodies and an underproduction of IgA, IgG, and IgE.[13][7] Pathophysiology[edit] CD40 is a costimulatory receptor on B cells that, when bound to CD40 ligand (CD40L), sends a signal to the B-cell receptor.[14 [en.wikipedia.org]

Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies. Adv Immunol. 2007. 94:275-306. [QxMD MEDLINE Link]. Eijkhout HW, van Der Meer JW, Kallenberg CG, et al. [emedicine.medscape.com]

Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies. Adv Immunol, 94 (2007), pp. 275-306 [12] K. Imai, G. Slupphaug, W.I. Lee, P. Revy, S. Nonoyama, N. Catalan, et al. [elsevier.es]

[…] therapy to prevent infections and treat autoimmune complications (administered by direct infusion [IVIG] or just below the surface of the skin [subcutaneous immunoglobulin]) Restricted contact to avoid exposure to new potential infections An allogeneic [chop.edu]

Platelets are specialized blood cells that help prevent and stop bleeding. [rarediseases.org]

[…] member of the following medical societies: Academy of Medicine of New Jersey, American Academy of Allergy Asthma and Immunology, American Academy of Hospice and Palliative Medicine, American Association of Public Health Physicians, American College of Preventive [emedicine.medscape.com]

Potential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humans. Autoimmunity, 46 (2013), pp. 148-156 [16] E.G. Davies, A.J. Thrasher. Update on the hyper immunoglobulin M syndromes. [elsevier.es]