Macrophage Activation Syndrome as a Complication of Chronic Granulomatous Disease : A Case Report
Chronic granulomatous disease (CGD) presents with granuloma formation and lethal infections. It is inherited in an autosomal or X-linked recessive pattern. We describe a 10-month-old patient with a fatal secondary HLH as a CGD primary manifestation. We carried out an autopsy and found noncaseating granulomas, an aspergilloma in the lung, and hemophagocytosis. We performed a DHR assay on the patient's mother and grandmother, showing a bimodal pattern conclusive of X-linked CGD. Thus, our definitive diagnosis was CGD complicated by macrophage activation syndrome. CGD is caused by phagocytes' inability to control pathogens, resulting in granulomas. Secondary HLH is a severe complication and could be characterized by the proliferation of macrophages and T lymphocytes and the production of proinflammatory cytokines. The early suspicion of this presentation helps establish a specific treatment, and the study of the carriers helps determine the etiology.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2023 |
|---|---|
| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:22 |
|---|---|
| Enthalten in: |
Iranian journal of allergy, asthma, and immunology - 22(2023), 6 vom: 28. Dez., Seite 600-603 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Liquidano-Perez, Eduardo [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Case Reports |
|---|
| Anmerkungen: |
Date Completed 14.03.2024 Date Revised 14.03.2024 published: Electronic Citation Status MEDLINE |
|---|
| doi: |
10.18502/ijaai.v22i6.14648 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM369676718 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM369676718 | ||
| 003 | DE-627 | ||
| 005 | 20240315000042.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240313s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.18502/ijaai.v22i6.14648 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1329.xml |
| 035 | |a (DE-627)NLM369676718 | ||
| 035 | |a (NLM)38477956 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Liquidano-Perez, Eduardo |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Macrophage Activation Syndrome as a Complication of Chronic Granulomatous Disease |b A Case Report |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 14.03.2024 | ||
| 500 | |a Date Revised 14.03.2024 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Chronic granulomatous disease (CGD) presents with granuloma formation and lethal infections. It is inherited in an autosomal or X-linked recessive pattern. We describe a 10-month-old patient with a fatal secondary HLH as a CGD primary manifestation. We carried out an autopsy and found noncaseating granulomas, an aspergilloma in the lung, and hemophagocytosis. We performed a DHR assay on the patient's mother and grandmother, showing a bimodal pattern conclusive of X-linked CGD. Thus, our definitive diagnosis was CGD complicated by macrophage activation syndrome. CGD is caused by phagocytes' inability to control pathogens, resulting in granulomas. Secondary HLH is a severe complication and could be characterized by the proliferation of macrophages and T lymphocytes and the production of proinflammatory cytokines. The early suspicion of this presentation helps establish a specific treatment, and the study of the carriers helps determine the etiology | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Chronic granulomatous disease | |
| 650 | 4 | |a Dihydrorhodamine 123 | |
| 650 | 4 | |a Immunologic deficiency syndromes | |
| 650 | 4 | |a Macrophage activation syndrome | |
| 650 | 7 | |a Cytokines |2 NLM | |
| 700 | 1 | |a Carmona Berrón, Mariana |e verfasserin |4 aut | |
| 700 | 1 | |a Carrillo Nieto, Rosa Itzel |e verfasserin |4 aut | |
| 700 | 1 | |a Corcuera Delgado, Celso Tomás |e verfasserin |4 aut | |
| 700 | 1 | |a Blancas Galicia, Lizbeth |e verfasserin |4 aut | |
| 700 | 1 | |a Scheffler Mendoza, Selma Cecilia |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Iranian journal of allergy, asthma, and immunology |d 2003 |g 22(2023), 6 vom: 28. Dez., Seite 600-603 |w (DE-627)NLM167826980 |x 1735-5249 |7 nnns |
| 773 | 1 | 8 | |g volume:22 |g year:2023 |g number:6 |g day:28 |g month:12 |g pages:600-603 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.18502/ijaai.v22i6.14648 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 22 |j 2023 |e 6 |b 28 |c 12 |h 600-603 | ||