[CIS PIDD] inversion in chromosome 1 and recurrent infections

[Aristoteles Alvarez Cardona]

Dear all:

I would like to know your opinion in this patient who just
met.

7 yo. female.  46, XX cariotype with:  inv(1)(p22q24) 

46,XX,inv(1)pter--p22::q24--p22::q24--qter

At birth she presented cleft palate, low implanted ears, bird
face, dismorphyc hands and feet (malformation sequence).

Previous history of recurrent upper respiratory tract
infections since the first year of age including: 

Recurrent otitis  media requiring ventilation tubes from 1 - 5 years of age.

At least 3 pneumonias and  recurrent wheezing.

Mild recurrent events of diarrhea and failure to thrive.

Most of the infections are dificult to treat requiring
several antibiotics or weeks to heal.

Immunization schedule: BCG at birth, DPaT 4 doses, HepB 3
doses, Prevnar 3 doses, MMR 1 dose. (In every immunization she usually gets
fever and malaise almost for a week)

Weight 17.5Kg. (<p3) Stature 114cm. (<p3) 

Besides dysmorphic, unremarkable physical examination.

Previous laboratory workup:

Hb 10.6 Ht 32.1 Leukocytes 7100 cells/mm3 Total Neutrophils
5000, total lymphocytes 1600 Monocytes 500 Platelets 370,000.
IgG 1220 IgA 151 IgM 223 IgE 3.0 
IgG1 761 IgG2 266 IgG3 44 IgG4 4.0
Positive specific IgE (RAST) for egg, cow´s milk, rice and
tree pollen.

The next step forward is to obtain pneumococcal titers and flow
cytometry for lymphocytes populations.

Now: 

Do you know about immune deficiencies associated with
chromosome 1 inversion like this one?

I will be deeply grateful with your insights on this case.

Kind regards.
 

Aristóteles Álvarez Cardona MD.
Clínica de Inmunología. Alergia. Pediatría
Inmunodeficiencias Primarias

Universidad Autónoma de Aguascalientes
Alumno. Maestría en Investigación Biomédica.
Avenida Universidad 940
Ciudad Universitaria
Edificio 202 Laboratorio 2 
Aguascalientes, Ags. México CP 20131.
Tel +52 (449) 9108425 (Laboratorio del Tutor)
www.uaa.mx
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