Severe Combined Immunodeficiency Presenting Research Articles

Disseminated tuberculosis complicating Bacillus Calmette-Guérin (BCG) vaccine as only presentation of severe combined immunodeficiency (SCID): A report of 3 cases.

Severe combined immunodeficiency disease (SCID) is a rare primary immunodeficiency disease, usually manifest in the first six months of life with failure to thrive, oral thrush, recurrent respiratory infection, and chronic diarrhea. In three male patients, we describe an unusual presentation of SCID. They are an outcome of consanguineous marriage; all received the BCG vaccine at birth. All three cases presented with regional lymphadenopathy at three months, progressing to generalized lymphadenopathy treated with anti-tuberculous. The first and second cases were twins. The first had an uneventful history until 33 months when he developed multiple Suppurative Tuberculous lymphadenitis confirmed by biopsy. The second and the third cases were diagnosed with Disseminated Tuberculosis at 24 months as they developed fever, anemia, weight loss, tuberculous peritonitis, and lymphadenopathy confirmed by biopsy. After investigations, the first case was diagnosed as CD4, CD16 lymphopenic SCID, the second one as CD4, CD8, CD19, CD16 lymphopenic SCID with hypogammaglobulinemia and the third case as CD3, CD4, CD8 lymphopenic SCID with hypogammaglobulinemia. They received anti-Tuberculous medications, prophylactic Trimethoprim/Sulfamethoxazole, and Immunoglobulin infusion. When writing this abstract, the patients were alive and had no other bacterial, viral, or fungal infections. The twins are three years old, and the third case is 30 months old. SCID may not exhibit the classical manifestation of recurrent infections. It may present only as a complication of the BCG vaccine, alarming to maintain high susceptibility in such patients, especially in a developing country, specifically in Sudan, where the BCG vaccine is usually given at birth.

Dyschromia Related to Severe Combined Immunodeficiency

Severe combined immunodeficiency includes a group of diseases characterized by different inherited immunological defects. A 4-month-old girl diagnosed with Omenn syndrome, a subtype of severe combined immunodeficiency presenting with generalized erythroderma, was referred to our hospital for an allogeneic stem cell transplantation. Days before transplantation, she developed hyperpigmented macules that increased in number in the following months. As the erythroderma resolved after transplantation, diffuse hypopigmentation was simultaneously noted together with the expansion of hyperpigmented lesions. Cutaneous biopsy samples were taken at different moments, showing features of Omenn syndrome at first, and 2 months later changes consistent with hypopigmentation and repigmentation were observed. Although pigmentary disorders are rarely described in this context, these must be taken into account as a possible alternative diagnosis to graft-versus-host disease and toxicoderma in immunosuppressed patients.

NK cell: an unforgettable lymphocyte (comment on “Delayed presentation of severe combined immunodeficiency due to prolonged maternal T cell engraftment”)

lettersNK cell: an unforgettable lymphocyte (comment on “Delayed presentation of severe combined immunodeficiency due to prolonged maternal T cell engraftment”) Luis Ignacio Gonzalez-GranadoMD Luis Ignacio Gonzalez-Granado Pediatrics and Immunodeficiency Hospital, 12 Octubre, Madrid, Spain Search for more papers by this author Email the corresponding author at [email protected] Published Online:7 Apr 2011https://doi.org/10.4103/0256-4947.78209SectionsPDF ToolsAdd to favoritesDownload citationTrack citations ShareShare onFacebookTwitterLinked InRedditEmail AboutIntroductionTo the Editor: I read with great interest the article by Al-Muhsen “Delayed presentation of severe combined immunodeficiency due to prolonged maternal T cell engraftment” in the May/June 2010 issue of the journal.1 I do really appreciate the contribution to the knowledge of maternal T cell engraftment in severe combined immunodeficiency (SCID). However, I would like to make some comments.Antibody responses are not needed when SCID is suspected. Immunoglobulin replacement therapy does not preclude this assessment, for instance, regarding antibodies agains S Typhi upon vaccination, as titers are not generally present in donors.2 Isohemaglutinins—a natural source of antibodies of type IgM—could also be measured in spite of immunoglobulin replacement (where only IgG is administered).The author state a T-B+ phenotype. However, as can be seen in [Table 1] (see reference 1), CD16-56 (the marker for natural killer [NK] cells) are below the normal range. So we can affirm the patient presented a T low B+ NK low (I say low because we use “-” when the lymphocyte subset is definitely absent). Moreover, a phenotype with decreased T and NK cells is strongly suggestive of cytokine receptor common gamma chain (gc) (or CD132) deficiency. This comprises for 2 out of 3 cases of SCID (also known as X-linked SCID). There are well established criteria by the European Society For Primary Immunodeficiencies (ESID)3The genes sequenced (RAG1/2, Artemis) show a different lymphocyte subset phenotype: T-B-. This is because the failure precludes functional V(D)J recombination that finally lead to the development of T cell and B cell surface receptors (TCR and BCR). But this does not affect NK cells. In this last case, we propose radiosensitivity tests in fibroblasts, as an easy way to guide a cheaper and faster gene sequencing (SCID with radiosensitivity are caused by defects in the nonhomologous end-joining (NHEJ) DNA repair pathway: Artemis, DNApKcs, DNA ligase IV and XLF).4CD40L deficiency (hyper IgM syndrome) was ruled out by cytometry. This is neither necessary nor reliable. CD40L should nor be considered within the differential diagnosis as IgM is absent. There is general agreement that CD40L deficiency is not ruled out in many cases, so going straightforward to gene sequencing is the most common approach.ARTICLE REFERENCES:1. Al-Muhsen SZ. "Delayed presentation of severe combined immunodeficiency due to prolonged maternal T cell engraftment" . Ann Saudi Med. 2010; 30:239-42. Google Scholar2. In: Ferry BL, Misbah SA, Stephens P, Sherrell Z, Lythgoe H, Bateman E , et al.. "Development of an anti-Salmonella typhi Vi ELISA: assessment of immunocompetence in healthy donors" . Clin Exp Immunol. 2004; 136:297-303. Google Scholar3. "Diagnostic criteria for Primary Immunodeficiencies from the European Society For Primary Immunodeficiencies (ESID)" . Last accessed on 2010 Apr 18Available from: http://www.esid.org/workingparty.hp?party=3&sub=2&id=73#Q18. Google Scholar4. In: Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR , et al.. "Omenn syndrome due to ARTEMIS mutations" . Blood. 2005; 105:4179-86. Google Scholar Previous article Next article FiguresReferencesRelatedDetails Volume 31, Issue 2Mar–Apr 2011 Metrics History Published online7 April 2011 InformationCopyright © 2011, Annals of Saudi MedicineThis is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.PDF download

Delayed presentation of severe combined immunodeficiency due to prolonged maternal T cell engraftment

Severe combined immunodeficiency (SCID) is a primary immunodeficiency disorder with heterogenous genetic etiologies. We describe a typical case in a 9-year-old boy that was masked by a clinically functional maternal T cell engraftment leading to late presentation with Pneumocystis jiroveci pneumonia and cytomegalovirus infection, probably following exhaustion of maternally engrafted cells. Based on immunological findings, he had a T- B+SCID phenotype. This report suggests that in rare cases, engrafted maternal T cell might persist for long time leading to partial constitution of immune function and delayed clinical presentation of SCID.

Unsuspected Pneumocystis cariniipneumonia at presentation of severe primary immunodeficiency

BACKGROUNDPneumocystis carinii is an important pathogen in immunodeficiency but may be an unrecognised cause of respiratory compromise.OBJECTIVESTo ascertain the incidence of P cariniipneumonia (PCP) at presentation of severe combined immunodeficiency...