PMC10102344_01
(A) This pedigree shows four generations of relations to the proband who is indicated with the black arrowhead IV-4. Red color in III-1, III-5, III-11, IV-2, and IV-4 indicates individuals affected by symptoms. Only the father (III-5), the mother (III-6), and the patient (IV-4) received genetic testing (indicated by   in the pedigree); other affected individuals had clinical presentations highly suggestive of Mendelian susceptibility to mycobacterial disease (MSMD) and a history of multiple recurrent tuberculosis infections in childhood. III-7, III-8, III-9, III-10, and their offspring (not shown) have no MSMD symptoms or complaints. This pedigree was constructed using https://www.progenygenetics.com. (B) This figure illustrates the timeline of care for the patient (IV-4), with relevant date points highlighted, and identifies the major point of care. (C) This photographic image shows the chest x-ray for the patient, which is showing bilateral prominent hilar lymph nodes and bilateral diffuse reticulation with multiple hyperlucencies involving bilateral upper, middle, and left lower lobes (yellow arrows). These chest x-ray findings indicate early bronchiectasis.
fimmu-14-1135824-g001.jpg
PMC10102344_02_fimmu-14-1135824-g001.jpg
f1
He also had recurrent febrile illnesses associated with abdominal pain and mesenteric lymphadenitis that were diagnosed as typhoid fever on many occasions based on a very high antibody titer on Widal test (culture not done) (  Figure 1B  ). In this occasion (January 2022), his diagnosis was disseminated TB (  Figure 1B  ). His family history was remarkable for the affection of four other members (  Figure 1A : III-1, III-5, III-11, IV-2, and IV-4) across two generations including his father (  Figure 1A : III-5), with a similar condition. Figure 1A : III-5), who was 40 years old at the time of presentation of the proband, had recurrent TB adenitis since early childhood, which was diagnosed based on histopathology and acid-fast Bacillus (AFB) stain. Furthermore, the proband's parents reported that the father had three episodes of meningitis. After taking a detailed family history, the mother mentioned a similar presentation of disseminated BCG infection leading to early infantile death in one of her own cousins (  Figure 1A : III-11). There is a positive family history of recurrent adenitis among members of the patient's paternal family including his paternal aunt (III-1) and paternal cousin (IV-2) (  Figure 1A  ). The chest x-ray showed bilateral prominent hilar lymph nodes ( Figure 1C  ). The diagnosis of TB infection was further confirmed with PCRs using
PMC10102344_02
(A) This pedigree shows four generations of relations to the proband who is indicated with the black arrowhead IV-4. Red color in III-1, III-5, III-11, IV-2, and IV-4 indicates individuals affected by symptoms. Only the father (III-5), the mother (III-6), and the patient (IV-4) received genetic testing (indicated by   in the pedigree); other affected individuals had clinical presentations highly suggestive of Mendelian susceptibility to mycobacterial disease (MSMD) and a history of multiple recurrent tuberculosis infections in childhood. III-7, III-8, III-9, III-10, and their offspring (not shown) have no MSMD symptoms or complaints. This pedigree was constructed using https://www.progenygenetics.com. (B) This figure illustrates the timeline of care for the patient (IV-4), with relevant date points highlighted, and identifies the major point of care. (C) This photographic image shows the chest x-ray for the patient, which is showing bilateral prominent hilar lymph nodes and bilateral diffuse reticulation with multiple hyperlucencies involving bilateral upper, middle, and left lower lobes (yellow arrows). These chest x-ray findings indicate early bronchiectasis.
fimmu-14-1135824-g001.jpg
PMC10102344_02_fimmu-14-1135824-g001.jpg
f1
He also had recurrent febrile illnesses associated with abdominal pain and mesenteric lymphadenitis that were diagnosed as typhoid fever on many occasions based on a very high antibody titer on Widal test (culture not done) (  Figure 1B  ). In this occasion (January 2022), his diagnosis was disseminated TB (  Figure 1B  ). His family history was remarkable for the affection of four other members (  Figure 1A : III-1, III-5, III-11, IV-2, and IV-4) across two generations including his father (  Figure 1A : III-5), with a similar condition. Figure 1A : III-5), who was 40 years old at the time of presentation of the proband, had recurrent TB adenitis since early childhood, which was diagnosed based on histopathology and acid-fast Bacillus (AFB) stain. Furthermore, the proband's parents reported that the father had three episodes of meningitis. After taking a detailed family history, the mother mentioned a similar presentation of disseminated BCG infection leading to early infantile death in one of her own cousins (  Figure 1A : III-11). There is a positive family history of recurrent adenitis among members of the patient's paternal family including his paternal aunt (III-1) and paternal cousin (IV-2) (  Figure 1A  ). The chest x-ray showed bilateral prominent hilar lymph nodes ( Figure 1C  ). The diagnosis of TB infection was further confirmed with PCRs using