Patients with CD40 deficiency (HIGM Type 3) have an autosomal recessive form of hyper IgM syndrome which can present with features identical to X-linked hyper IgM syndrome. 4. [immunodeficiencysearch.com]

The age at presentation was 1-18 months and showed variable clinical severity. They presented with respiratory infection of viral origin followed by bacterial infections. [jpgmonline.com]

So although the problem presents as an inability of B cells to make an appropriate antibody response to infections, the defect is on T cells. [dermnetnz.org]

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

• Increased Susceptibility to Infections

  As a consequence, people with HIGM have an increased susceptibility to infections. [owlapps.net]

  As a consequence, people with HIGM have an increased susceptibility to infections.[9][7][10] Signs and symptoms[edit] Hyper IgM syndrome can have the following syndromes:[6][11] Infection/Pneumocystis pneumonia (PCP), which is common in infants with hyper [en.wikipedia.org]

• Weight Loss

  In some people, neutropenia may also result in weight loss and/or susceptibility to other infections. [rarediseases.org]

• Encephalopathy

  Hepatitis (Hepatitis C) Chronic diarrhea Hypothyroidism Neutropenia Arthritis Encephalopathy (degenerative) Cause Different genetic defects cause HIgM syndrome, the vast majority are inherited as an X-linked recessive genetic trait and most sufferers [owlapps.net]

  Hepatitis (Hepatitis C) Chronic diarrhea Hypothyroidism Neutropenia Arthritis Encephalopathy (degenerative) Cause[edit] Class switch recombination Different genetic defects cause HIgM syndrome, the vast majority are inherited as an X-linked recessive [en.wikipedia.org]

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]

• Neutropenia

  [from OMIM] Show allHide all Abnormal cellular phenotype IgA deficiency IgE deficiency IgG deficiency Impaired Ig class switch recombination Impaired memory B-cell generation Increased IgM level Abnormality of blood and blood-forming tissues Neutropenia [ncbi.nlm.nih.gov]

  Treatment of Neutropenia Patients with persistent neutropenia may respond to therapy with GCSF (granulocyte colony stimulating factor). 4. [immunodeficiencysearch.com]

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

  In some patients with severe neutropenia, the use of granulocyte colony-stimulating factor has been beneficial (65). [lvts.fr]

• Giardia Lamblia

  Gastrointestinal infections often due to Giardia lamblia or viruses are also common. [rarediseases.org]

• Helicobacter Pylori

  P2 was diagnosed at the age of 47 years with a low-grade mucosa-associated lymphoid tissue (MALT) lymphoma associated with Helicobacter pylori infection, whose eradication induced MALT remission. [mdpi.com]

Before taking any medication, always check with a qualified professional for healthcare information, treatment advice. [rarediseases.oscar.ncsu.edu]

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

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]

PMID: 21841160Free PMC Article Prognosis Suzuki SML, Morelli F, Negri M, Bonfim-Mendonça P, Kioshima ÉS, Salci T, Voidaleski MF, Vicente VA, Svidzinski T J Mycol Med 2019 Sep;29(3):273-277. Epub 2019 Jul 26 doi: 10.1016/j.mycmed.2019.07.002. [ncbi.nlm.nih.gov]

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

Given her compromised lung condition, with a potential poor prognosis, she was immediately started on regular intravenous Ig therapy, which obviated further study of in vivo antibody responses, such as the responses to previously administered vaccines [cvi.asm.org]

Even though a permanent cure is anticipated following successful stem cell transplant, the long-term prognosis for people affected remains unknown. [disabled-world.com]

Etiology Khalili M, Farzi H, Darougar S, Hajijoo F, Mesdaghi M, Mansouri M, Babaie D, Hashemitari A, Eslami N, Chavoshzadeh Z Iran J Allergy Asthma Immunol 2021 Dec 8;20(6):693-699. doi: 10.18502/ijaai.v20i6.8020. [ncbi.nlm.nih.gov]

Allowable Qualifiers: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology [decs.bvsalud.org]

Allowable Qualifiers: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET [decs.bvsalud.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]

The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management. Clin. Immunol. 2019, 198, 19–30. [mdpi.com]

Pathophysiology CD40 is a costimulatory receptor on B cells that, when bound to CD40 ligand (CD40L), sends a signal to the B-cell receptor. When there is a defect in CD40, this leads to defective T-cell interaction with B cells. [owlapps.net]

Immunology: Clinical Case Studies and Disease Pathophysiology. John Wiley & Sons. ISBN 9781118966006. Retrieved 27 November 2016. Kleinman, Ronald (Professor of Paediatrics (2008). Walker's Pediatric Gastrointestinal Disease. PMPH-USA. [en.wikipedia.org]

Children receiving this treatment get regular infusions of donated blood plasma to prevent infections. In boys with XHIM, IVIG replaces missing IgG antibodies while normalizing levels of IgM. [childrens.com]

However it may not prevent the opportunistic infections. In some cases it also improves growth. Trimethoprim + sulphamethoxazole may be given prophylactically to prevent Pneumocystis jirovecii infection. [dermnetnz.org]

[…] 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]

Mutations in the CD40LG gene lead to the production of an abnormal CD40 ligand or prevent production of this protein. If CD40 ligand does not attach to its receptor on B cells, these cells cannot produce IgG, IgA, or IgE antibodies. [encyclopedia.pub]